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 LRRC39 0 genome.wustl.edu 37 1 100618013 100618013 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 100618013 100618013 C T SNP LRRC39 ENST00000370138 human ensembl 74_37 -1 known missense c.880 p.E294K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC39 HGNC ENSG00000122477 154 0 0 83 70 45.7516 RTCA 0 genome.wustl.edu 37 1 100756997 100756997 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 100756997 100756997 C T SNP RTCA ENST00000260563 human ensembl 74_37 +1 known silent c.1077 p.D359 0.993 superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 - no_errors RTCA HGNC ENSG00000137996 141 0 0 85 49 36.5672 S1PR1 0 genome.wustl.edu 37 1 101705418 101705418 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 101705418 101705418 C T SNP S1PR1 ENST00000305352 human ensembl 74_37 +1 known missense c.878 p.A293V 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_S1P_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 294 0 0 175 104 37.276 COL11A1 0 genome.wustl.edu 37 1 103491152 103491152 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 103491152 103491152 A G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.951 p.D317 0.989 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 49 0 0 29 20 40.8163 AMY2B 0 genome.wustl.edu 37 1 104120026 104120026 + RNA SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 104120026 104120026 A T SNP AMY2B ENST00000481821 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AMY2B HGNC ENSG00000240038 48 0 0 29 12 29.2683 AMY2B 0 genome.wustl.edu 37 1 104120145 104120145 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 104120145 104120145 A G SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.1135 p.N379D 0.985 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom 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 194 0 0 113 55 32.7381 AMY2B 0 genome.wustl.edu 37 1 104120389 104120389 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 104120389 104120389 A G SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.1268 p.N423S 1.000 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 193 0 0 131 91 40.991 CASZ1 0 genome.wustl.edu 37 1 10700033 10700033 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 10700033 10700033 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.4246 p.R1416W 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 58 0 0 25 22 46.8085 EPS8L3 0 genome.wustl.edu 37 1 110300588 110300588 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 110300588 110300588 C T SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known silent c.813 p.G271 0.936 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 126 0 0 94 10 9.61538 KCNA3 0 genome.wustl.edu 37 1 111216137 111216137 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 111216137 111216137 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.1295 p.P432L 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 71 0 0 28 19 40.4255 KCNA3 0 genome.wustl.edu 37 1 111217309 111217309 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 111217309 111217309 C T SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.123 p.A41 0.451 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 20 0 0 4 7 63.6364 MTOR 0 genome.wustl.edu 37 1 11303337 11303337 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 11303337 11303337 T C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.1246 p.T416A 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 91 0 0 57 46 44.6602 MOV10 0 genome.wustl.edu 37 1 113231495 113231495 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 113231495 113231495 G A SNP MOV10 ENST00000496577 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MOV10 HGNC ENSG00000155363 20 0 0 13 15 53.5714 MAGI3 0 genome.wustl.edu 37 1 114225544 114225544 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 114225544 114225544 G A SNP MAGI3 ENST00000307546 human ensembl 74_37 +1 novel silent c.3354 p.S1118 0.998 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 24 0 0 26 9 25.7143 SLC22A15 0 genome.wustl.edu 37 1 116534699 116534699 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 116534699 116534699 G A SNP SLC22A15 ENST00000369503 human ensembl 74_37 +1 known silent c.135 p.T45 0.394 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC ENSG00000163393 38 0 0 18 19 51.3514 IGSF3 0 genome.wustl.edu 37 1 117150572 117150572 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 117150572 117150572 A G SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.1214 p.L405P 0.998 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 111 1 0.892857 69 48 41.0256 IGSF3 0 genome.wustl.edu 37 1 117150721 117150721 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 117150721 117150721 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.1065 p.S355 0.543 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 111 0 0 66 35 34.6535 IGSF3 0 genome.wustl.edu 37 1 117150811 117150811 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 117150811 117150811 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.975 p.I325 0.498 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 29 0 0 8 11 57.8947 DRAXIN 0 genome.wustl.edu 37 1 11766419 11766419 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 11766419 11766419 G A SNP DRAXIN ENST00000294485 human ensembl 74_37 +1 known missense c.104 p.R35Q 0.000 NULL NULL - no_errors DRAXIN HGNC ENSG00000162490 47 0 0 33 18 35.2941 CLCN6 0 genome.wustl.edu 37 1 11900199 11900199 + Splice_Site SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 11900199 11900199 G C SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known splice_site c.2530-1 e23-1 1.000 - - - no_errors CLCN6 HGNC ENSG00000011021 93 0 0 65 42 39.2523 HAO2 0 genome.wustl.edu 37 1 119923812 119923812 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 119923812 119923812 G A SNP HAO2 ENST00000361035 human ensembl 74_37 +1 known missense c.143 p.R48Q 0.567 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 106 0 0 80 49 37.9845 HMGCS2 0 genome.wustl.edu 37 1 120302555 120302555 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 120302555 120302555 C T SNP HMGCS2 ENST00000369406 human ensembl 74_37 -1 known missense c.617 p.R206H 1.000 pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS2 HGNC ENSG00000134240 63 0 0 36 25 40.9836 NOTCH2 0 genome.wustl.edu 37 1 120539712 120539712 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 120539712 120539712 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.659 p.S220N 0.461 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 55 0 0 39 23 37.0968 VPS13D 0 genome.wustl.edu 37 1 12401935 12401935 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 12401935 12401935 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.8725 p.P2909S 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 99 0 0 65 33 33.6735 MXRA8 0 genome.wustl.edu 37 1 1290355 1290355 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 1290355 1290355 G A SNP MXRA8 ENST00000445648 human ensembl 74_37 -1 known missense c.656 p.A219V 0.998 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 9 0 0 7 4 36.3636 PRAMEF4 0 genome.wustl.edu 37 1 12943044 12943044 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 12943044 12943044 C T SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known missense c.172 p.V58M 0.717 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 116 0 0 125 14 10.0719 CCNL2 0 genome.wustl.edu 37 1 1322694 1322694 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 1322694 1322694 G A SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known nonsense c.1480 p.R494* 0.996 pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 128 0 0 71 49 40.8333 PRDM2 0 genome.wustl.edu 37 1 14075941 14075941 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 14075941 14075941 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.470 p.A157V 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 20 0 0 20 7 25.9259 PIAS3 0 genome.wustl.edu 37 1 145581207 145581207 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 145581207 145581207 T C SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known silent c.936 p.P312 0.529 pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 59 0 0 32 18 36 BCL9 0 genome.wustl.edu 37 1 147096166 147096166 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 147096166 147096166 C T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.3687 p.T1229 0.953 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 113 0 0 63 34 35.0515 SV2A 0 genome.wustl.edu 37 1 149882489 149882489 + Missense_Mutation SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 149882489 149882489 C G SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.844 p.E282Q 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 51 0 0 26 11 29.7297 ADAMTSL4 0 genome.wustl.edu 37 1 150525976 150525976 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 150525976 150525976 G A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.509 p.R170Q 1.000 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 98 0 0 56 27 32.5301 POGZ 0 genome.wustl.edu 37 1 151397495 151397495 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 151397495 151397495 C T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.1121 p.R374Q 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 18 0 0 7 4 36.3636 NBPF18P 0 genome.wustl.edu 37 1 151994944 151994944 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 151994944 151994944 C T SNP NBPF18P ENST00000432386 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NBPF18P HGNC ENSG00000229021 28 0 0 17 9 34.6154 FLG 0 genome.wustl.edu 37 1 152283170 152283170 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 152283170 152283170 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.4192 p.S1398R 0.002 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 420 0 0 221 156 41.3793 FLG 0 genome.wustl.edu 37 1 152285339 152285339 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 152285339 152285339 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.2023 p.D675Y 0.004 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 424 0 0 254 158 38.3495 CRCT1 0 genome.wustl.edu 37 1 152488062 152488062 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 152488062 152488062 G A SNP CRCT1 ENST00000368790 human ensembl 74_37 +1 known missense c.203 p.R68H 0.984 NULL NULL - no_errors CRCT1 HGNC ENSG00000169509 17 0 0 6 6 50 LCE1D 0 genome.wustl.edu 37 1 152770558 152770558 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 152770558 152770558 G A SNP LCE1D ENST00000326233 human ensembl 74_37 +1 known silent c.288 p.S96 0.000 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 86 0 0 59 7 10.6061 ATP8B2 0 genome.wustl.edu 37 1 154302929 154302929 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 154302929 154302929 C T SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.188 p.A63V 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8B2 HGNC ENSG00000143515 45 0 0 46 27 36.9863 SHE 0 genome.wustl.edu 37 1 154461771 154461771 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 154461771 154461771 G T SNP SHE ENST00000304760 human ensembl 74_37 -1 known silent c.780 p.P260 0.995 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 98 0 0 59 41 41 CHRNB2 0 genome.wustl.edu 37 1 154544057 154544057 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 154544057 154544057 T C SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known missense c.758 p.I253T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 171 0 0 76 56 42.4242 DCST1 0 genome.wustl.edu 37 1 155015874 155015874 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155015874 155015874 G A SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known missense c.1061 p.R354H 0.958 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 87 0 0 53 19 26.3889 EFNA4 0 genome.wustl.edu 37 1 155041446 155041446 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155041446 155041446 G A SNP EFNA4 ENST00000368409 human ensembl 74_37 +1 known missense c.587 p.R196H 0.995 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA4 HGNC ENSG00000243364 99 0 0 61 37 37.7551 MUC1 0 genome.wustl.edu 37 1 155160514 155160514 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155160514 155160514 C T SNP MUC1 ENST00000368395 human ensembl 74_37 -1 known missense c.914 p.G305D 0.000 pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC1 HGNC ENSG00000185499 132 0 0 85 51 37.5 PKLR 0 genome.wustl.edu 37 1 155265256 155265256 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155265256 155265256 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.479 p.P160L 0.993 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 11 0 0 5 8 61.5385 RUSC1 0 genome.wustl.edu 37 1 155296779 155296779 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155296779 155296779 G A SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.2270 p.R757H 0.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 94 0 0 58 38 39.5833 ASH1L 0 genome.wustl.edu 37 1 155448107 155448107 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155448107 155448107 T G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.4554 p.R1518S 0.997 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 83 0 0 49 39 44.3182 SEMA4A 0 genome.wustl.edu 37 1 156132858 156132858 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 156132858 156132858 C T SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known silent c.1107 p.G369 0.012 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4A HGNC ENSG00000196189 71 0 0 54 20 27.027 RHBG 0 genome.wustl.edu 37 1 156347148 156347148 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 156347148 156347148 C A SNP RHBG ENST00000368246 human ensembl 74_37 +1 known missense c.244 p.L82M 1.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 171 0 0 119 65 35.3261 EFHD2 0 genome.wustl.edu 37 1 15755104 15755104 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 15755104 15755104 G A SNP EFHD2 ENST00000375980 human ensembl 74_37 +1 known missense c.607 p.V203M 0.002 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD2 HGNC ENSG00000142634 26 0 0 19 3 13.6364 OR6K2 0 genome.wustl.edu 37 1 158670411 158670411 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 158670411 158670411 T C SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known missense c.32 p.E11G 0.997 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 66 0 0 44 21 32.3077 CRP 0 genome.wustl.edu 37 1 159683558 159683558 + Silent SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 159683558 159683558 A C SNP CRP ENST00000255030 human ensembl 74_37 -1 known silent c.432 p.T144 0.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 344 0 0 217 140 39.2157 ATP1A2 0 genome.wustl.edu 37 1 160098557 160098557 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 160098557 160098557 C T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.1133 p.T378I 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 97 0 0 52 26 33.3333 PLEKHM2 0 genome.wustl.edu 37 1 16011067 16011067 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 16011067 16011067 A G SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.14 p.E5G 1.000 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 16 0 0 11 7 38.8889 COPA 0 genome.wustl.edu 37 1 160275305 160275305 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 160275305 160275305 G A SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.1612 p.R538C 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 100 0 0 58 42 42 PLEKHM2 0 genome.wustl.edu 37 1 16052022 16052022 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 16052022 16052022 C T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.923 p.T308M 0.821 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 8 0 0 4 4 50 PLEKHM2 0 genome.wustl.edu 37 1 16053733 16053733 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 16053733 16053733 C T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.1166 p.S389F 0.646 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 19 0 0 9 11 55 FCRLA 0 genome.wustl.edu 37 1 161682964 161682964 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 161682964 161682964 C T SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known missense c.943 p.P315S 0.251 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 102 0 0 46 28 37.8378 FAM131C 0 genome.wustl.edu 37 1 16389001 16389001 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 16389001 16389001 G T SNP FAM131C ENST00000375662 human ensembl 74_37 -1 known missense c.167 p.P56H 1.000 NULL superfamily_Chromodomain-like - no_errors FAM131C HGNC ENSG00000185519 12 0 0 4 3 42.8571 FBXO42 0 genome.wustl.edu 37 1 16583174 16583174 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 16583174 16583174 G A SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known missense c.583 p.P195S 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 71 0 0 38 20 34.4828 ADCY10 0 genome.wustl.edu 37 1 167839514 167839514 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 167839514 167839514 C A SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.1597 p.A533S 1.000 superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 61 0 0 37 18 32.7273 NADK 0 genome.wustl.edu 37 1 1685501 1685501 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 1685501 1685501 C T SNP NADK ENST00000344463 human ensembl 74_37 -1 known missense c.1525 p.V509I 1.000 pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 131 0 0 77 44 36.3636 NBPF1 0 genome.wustl.edu 37 1 16914226 16914226 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 16914226 16914226 G A SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel missense c.560 p.A187V 0.045 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 370 0 0 364 85 18.931 C1orf112 0 genome.wustl.edu 37 1 169822720 169822720 + RNA SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 169822720 169822720 A G SNP C1orf112 ENST00000459772 human ensembl 74_37 +1 known rna NULL NULL 0.163 - - - no_errors C1orf112 HGNC ENSG00000000460 24 0 0 7 9 56.25 CROCC 0 genome.wustl.edu 37 1 17256811 17256811 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 17256811 17256811 G A SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.652 p.A218T 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 15 0 0 21 7 25 CEP350 0 genome.wustl.edu 37 1 179965804 179965804 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 179965804 179965804 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.512 p.R171Q 0.001 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 18 0 0 24 4 14.2857 LHX4 0 genome.wustl.edu 37 1 180243343 180243343 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 180243343 180243343 G A SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.802 p.G268S 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 137 0 0 74 47 38.843 CACNA1E 0 genome.wustl.edu 37 1 181706764 181706764 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 181706764 181706764 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3526 p.V1176I 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 134 0 0 67 48 41.7391 SHCBP1L 0 genome.wustl.edu 37 1 182922237 182922237 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 182922237 182922237 G A SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known missense c.32 p.A11V 0.032 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 12 0 0 4 6 60 FAM129A 0 genome.wustl.edu 37 1 184764591 184764591 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 184764591 184764591 G A SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known silent c.2307 p.S769 0.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 350 0 0 208 139 40.0576 PAX7 0 genome.wustl.edu 37 1 19062247 19062247 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 19062247 19062247 G A SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known missense c.1277 p.R426Q 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 130 0 0 67 47 41.2281 MIR4695 0 genome.wustl.edu 37 1 19209748 19209748 + RNA SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 19209748 19209748 C G SNP MIR4695 ENST00000577305 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4695 HGNC ENSG00000265606 66 0 0 41 24 36.9231 CDC73 0 genome.wustl.edu 37 1 193104571 193104571 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 193104571 193104571 C T SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known nonsense c.358 p.R120* 0.999 NULL pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 69 0 0 38 19 33.3333 EMC1 0 genome.wustl.edu 37 1 19565614 19565614 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 19565614 19565614 C T SNP EMC1 ENST00000467423 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EMC1 HGNC ENSG00000127463 14 0 0 7 5 41.6667 CACNA1S 0 genome.wustl.edu 37 1 201042762 201042762 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 201042762 201042762 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.2072 p.P691L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 330 0 0 170 116 40.5594 CACNA1S 0 genome.wustl.edu 37 1 201047120 201047120 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 201047120 201047120 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.1506 p.F502 0.982 pfam_Ion_trans_dom,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 78 0 0 45 32 41.5584 CACNA1S 0 genome.wustl.edu 37 1 201063104 201063104 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 201063104 201063104 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.304 p.A102T 0.742 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 80 0 0 38 24 38.7097 GPR37L1 0 genome.wustl.edu 37 1 202096944 202096944 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 202096944 202096944 C A SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known missense c.706 p.L236M 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 71 0 0 75 5 6.25 PIK3C2B 0 genome.wustl.edu 37 1 204438269 204438269 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 204438269 204438269 C T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.662 p.R221H 0.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 459 0 0 282 164 36.7713 NFASC 0 genome.wustl.edu 37 1 204951100 204951100 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 204951100 204951100 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.2422 p.G808R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 26 0 0 20 6 23.0769 PIGR 0 genome.wustl.edu 37 1 207109149 207109149 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 207109149 207109149 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known missense c.1060 p.R354C 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 26 0 0 17 8 32 CR1 0 genome.wustl.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 207787753 207787753 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.6580 p.R2194* 0.477 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 40 0 0 48 6 11.1111 CAMK1G 0 genome.wustl.edu 37 1 209776581 209776581 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 209776581 209776581 A G SNP CAMK1G ENST00000009105 human ensembl 74_37 +1 known missense c.244 p.T82A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1G HGNC ENSG00000008118 51 0 0 32 18 36 HP1BP3 0 genome.wustl.edu 37 1 21076290 21076290 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 21076290 21076290 G A SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known missense c.1067 p.P356L 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 105 0 0 79 41 34.1667 RCOR3 0 genome.wustl.edu 37 1 211486067 211486067 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 211486067 211486067 C T SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.907 p.R303C 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 110 0 0 78 41 34.4538 EIF4G3 0 genome.wustl.edu 37 1 21191619 21191619 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 21191619 21191619 G A SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.2609 p.A870V 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 96 0 0 69 48 41.0256 ATF3 0 genome.wustl.edu 37 1 212792490 212792490 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 212792490 212792490 G A SNP ATF3 ENST00000465155 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATF3 HGNC ENSG00000162772 50 0 0 14 14 50 FLVCR1 0 genome.wustl.edu 37 1 213032160 213032160 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 213032160 213032160 C T SNP FLVCR1 ENST00000366971 human ensembl 74_37 +1 known silent c.366 p.A122 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors FLVCR1 HGNC ENSG00000162769 47 0 0 26 20 43.4783 CENPF 0 genome.wustl.edu 37 1 214828555 214828555 + RNA SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 214828555 214828555 T G SNP CENPF ENST00000469862 human ensembl 74_37 +1 known rna NULL NULL 0.661 - - - no_errors CENPF HGNC ENSG00000117724 15 0 0 6 7 53.8462 RAP1GAP 0 genome.wustl.edu 37 1 21929366 21929366 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 21929366 21929366 G A SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.1661 p.S554L 1.000 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 79 0 0 26 20 43.4783 EPRS 0 genome.wustl.edu 37 1 220195819 220195819 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 220195819 220195819 C T SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.985 p.G329R 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 119 0 0 87 37 29.8387 IARS2 0 genome.wustl.edu 37 1 220313568 220313568 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 220313568 220313568 G C SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.2351 p.R784P 1.000 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 58 0 0 27 12 30.7692 DUSP10 0 genome.wustl.edu 37 1 221912920 221912920 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 221912920 221912920 G A SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known missense c.167 p.A56V 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 102 0 0 62 21 25.3012 HHIPL2 0 genome.wustl.edu 37 1 222713534 222713534 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 222713534 222713534 C T SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.1268 p.R423H 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 99 0 0 70 6 7.89474 MIA3 0 genome.wustl.edu 37 1 222794552 222794552 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 222794552 222794552 G A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.185 p.R62H 1.000 pfam_SH3_2,superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 46 0 0 45 21 31.8182 TLR5 0 genome.wustl.edu 37 1 223284234 223284234 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 223284234 223284234 G C SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.2140 p.H714D 0.983 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 54 0 0 34 19 35.8491 SRP9 0 genome.wustl.edu 37 1 225971006 225971006 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 225971006 225971006 G A SNP SRP9 ENST00000304786 human ensembl 74_37 +1 known missense c.77 p.R26H 1.000 superfamily_Signal_recog_particle_SRP9/14,pirsf_Signal_recog_particle_SRP9 superfamily_Signal_recog_particle_SRP9/14,pirsf_Signal_recog_particle_SRP9 - no_errors SRP9 HGNC ENSG00000143742 52 0 0 28 32 53.3333 WNT3A 0 genome.wustl.edu 37 1 228210547 228210547 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 228210547 228210547 G A SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known missense c.251 p.R84H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 59 0 0 37 19 33.9286 OBSCN 0 genome.wustl.edu 37 1 228407097 228407097 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 228407097 228407097 C T SNP OBSCN ENST00000570156 human ensembl 74_37 +1 putative missense c.2726 p.T909M 0.776 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 34 0 0 15 7 31.8182 OBSCN 0 genome.wustl.edu 37 1 228481946 228481946 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 228481946 228481946 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.11225 p.P3742L 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 165 0 0 91 64 41.2903 EPHA8 0 genome.wustl.edu 37 1 22925427 22925427 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 22925427 22925427 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known nonsense c.2275 p.R759* 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 34 0 0 25 11 30.5556 ACTA1 0 genome.wustl.edu 37 1 229568141 229568141 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 229568141 229568141 G A SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known silent c.492 p.N164 0.980 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 56 0 0 34 16 32 NUP133 0 genome.wustl.edu 37 1 229599297 229599297 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 229599297 229599297 G C SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.2678 p.A893G 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 69 0 0 42 18 30 PGBD5 0 genome.wustl.edu 37 1 230486757 230486757 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 230486757 230486757 G A SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known missense c.931 p.R311W 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 101 0 0 61 28 31.4607 TARBP1 0 genome.wustl.edu 37 1 234527354 234527354 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 234527354 234527354 T A SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.4835 p.Q1612L 0.994 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 45 0 0 20 20 50 ASAP3 0 genome.wustl.edu 37 1 23782638 23782638 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 23782638 23782638 C T SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.179 p.R60Q 0.885 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 56 0 0 24 24 50 FH 0 genome.wustl.edu 37 1 241672068 241672068 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 241672068 241672068 A G SNP FH ENST00000366560 human ensembl 74_37 -1 known silent c.573 p.F191 0.844 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Fum_hydII pfam_Fumarate_lyase_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Fum_hydII - no_errors FH HGNC ENSG00000091483 44 0 0 24 14 36.8421 IFNLR1 0 genome.wustl.edu 37 1 24485550 24485550 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 24485550 24485550 G A SNP IFNLR1 ENST00000327535 human ensembl 74_37 -1 known missense c.793 p.R265W 0.000 NULL superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 131 0 0 64 38 37.2549 ZNF496 0 genome.wustl.edu 37 1 247473056 247473056 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 247473056 247473056 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known silent c.945 p.R315 0.000 pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 54 0 0 27 22 44.898 OR2T8 0 genome.wustl.edu 37 1 248084854 248084854 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 248084854 248084854 A G SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.535 p.T179A 0.009 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 OR2T8 HGNC ENSG00000177462 12 0 0 10 4 28.5714 OR2T33 0 genome.wustl.edu 37 1 248436550 248436550 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 248436550 248436550 G T SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.567 p.D189E 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 57 0 0 56 12 17.6471 OR2T3 0 genome.wustl.edu 37 1 248636988 248636988 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 248636988 248636988 G C SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known missense c.337 p.A113P 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T3 HGNC ENSG00000196539 87 0 0 45 28 38.3562 OR2T10 0 genome.wustl.edu 37 1 248756419 248756419 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 248756419 248756419 A G SNP OR2T10 ENST00000330500 human ensembl 74_37 -1 known silent c.651 p.S217 0.001 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 OR2T10 HGNC ENSG00000184022 65 0 0 78 13 14.2857 MMEL1 0 genome.wustl.edu 37 1 2526797 2526797 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 2526797 2526797 G A SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.1502 p.A501V 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 59 0 0 31 22 41.5094 AIM1L 0 genome.wustl.edu 37 1 26648679 26648679 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 26648679 26648679 C T SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known missense c.2251 p.E751K 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 228 1 0.436681 128 101 44.1048 ZNF683 0 genome.wustl.edu 37 1 26691260 26691260 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 26691260 26691260 G A SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known silent c.777 p.A259 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 51 0 0 28 15 34.8837 ARID1A 0 genome.wustl.edu 37 1 27058097 27058097 + Splice_Site SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 27058097 27058097 T C SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known splice_site c.1803+2 e3+2 1.000 - - - no_errors ARID1A HGNC ENSG00000117713 97 0 0 62 44 41.5094 SLC9A1 0 genome.wustl.edu 37 1 27428997 27428997 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 27428997 27428997 G A SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.1699 p.R567C 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 173 0 0 83 64 43.5374 RCC1 0 genome.wustl.edu 37 1 28864477 28864477 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 28864477 28864477 C T SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known silent c.1317 p.G439 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 27 0 0 15 11 42.3077 PTPRU 0 genome.wustl.edu 37 1 29586063 29586063 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 29586063 29586063 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.662 p.R221H 0.089 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 59 0 0 22 15 40.5405 PTPRU 0 genome.wustl.edu 37 1 29644433 29644433 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 29644433 29644433 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.3717 p.D1239 0.622 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 32 0 0 22 11 33.3333 KPNA6 0 genome.wustl.edu 37 1 32628102 32628102 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 32628102 32628102 C T SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known silent c.903 p.C301 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 95 0 0 49 34 40.9639 TXLNA 0 genome.wustl.edu 37 1 32655736 32655736 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 32655736 32655736 C T SNP TXLNA ENST00000373609 human ensembl 74_37 +1 known silent c.849 p.D283 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 9 0 0 6 5 45.4545 TXLNA 0 genome.wustl.edu 37 1 32658000 32658000 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 32658000 32658000 C T SNP TXLNA ENST00000373609 human ensembl 74_37 +1 known missense c.1052 p.A351V 0.998 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 70 0 0 30 23 43.3962 TSSK3 0 genome.wustl.edu 37 1 32829406 32829406 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 32829406 32829406 T C SNP TSSK3 ENST00000373534 human ensembl 74_37 +1 known missense c.356 p.V119A 0.976 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK3 HGNC ENSG00000162526 81 0 0 58 39 40.2062 KIAA1522 0 genome.wustl.edu 37 1 33236614 33236614 + Nonsense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 33236614 33236614 A T SNP KIAA1522 ENST00000401073 human ensembl 74_37 +1 known nonsense c.1834 p.K612* 1.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 88 0 0 49 39 44.3182 ADC 0 genome.wustl.edu 37 1 33563625 33563625 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 33563625 33563625 C T SNP ADC ENST00000373441 human ensembl 74_37 +1 known missense c.934 p.H312Y 0.021 superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 17 0 0 10 10 50 MEGF6 0 genome.wustl.edu 37 1 3410411 3410411 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 3410411 3410411 G A SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.4311 p.D1437 0.000 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 12 0 0 5 3 37.5 AGO1 0 genome.wustl.edu 37 1 36384666 36384666 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 36384666 36384666 G A SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.2276 p.R759Q 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 45 0 0 19 15 44.1176 MAP7D1 0 genome.wustl.edu 37 1 36636750 36636750 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 36636750 36636750 C T SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known silent c.225 p.V75 0.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 103 0 0 37 30 44.7761 SH3D21 0 genome.wustl.edu 37 1 36785787 36785787 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 36785787 36785787 C T SNP SH3D21 ENST00000453908 human ensembl 74_37 +1 known missense c.1523 p.S508L 0.001 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 71 0 0 36 28 43.75 MRPS15 0 genome.wustl.edu 37 1 36921447 36921447 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 36921447 36921447 C T SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known missense c.716 p.R239Q 0.000 NULL pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 144 0 0 72 56 43.75 CSF3R 0 genome.wustl.edu 37 1 36934824 36934824 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 36934824 36934824 G A SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known silent c.1509 p.I503 0.120 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 65 0 0 25 21 45.6522 EPHA10 0 genome.wustl.edu 37 1 38227453 38227453 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 38227453 38227453 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known silent c.474 p.D158 0.877 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 64 0 0 37 28 43.0769 MTF1 0 genome.wustl.edu 37 1 38288281 38288281 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 38288281 38288281 G T SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known missense c.1279 p.L427I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 73 0 0 38 26 40.625 POU3F1 0 genome.wustl.edu 37 1 38512179 38512179 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 38512179 38512179 G T SNP POU3F1 ENST00000373012 human ensembl 74_37 -1 known silent c.237 p.G79 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC ENSG00000185668 9 0 0 3 4 57.1429 PPT1 0 genome.wustl.edu 37 1 40546109 40546109 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 40546109 40546109 C T SNP PPT1 ENST00000433473 human ensembl 74_37 -1 known missense c.587 p.R196H 1.000 pfam_Palm_thioest,prints_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT1 HGNC ENSG00000131238 267 0 0 153 89 36.7769 HIVEP3 0 genome.wustl.edu 37 1 42047178 42047178 + Silent SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 42047178 42047178 T A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.3291 p.G1097 0.014 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 74 0 0 55 7 11.2903 ELOVL1 0 genome.wustl.edu 37 1 43831048 43831048 + Splice_Site SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 43831048 43831048 C T SNP ELOVL1 ENST00000372458 human ensembl 74_37 -1 known splice_site c.47-1 e2-1 1.000 - - - no_errors ELOVL1 HGNC ENSG00000066322 19 0 0 6 11 64.7059 ST3GAL3 0 genome.wustl.edu 37 1 44202014 44202014 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 44202014 44202014 G A SNP ST3GAL3 ENST00000262915 human ensembl 74_37 +1 known silent c.81 p.A27 0.406 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL3 HGNC ENSG00000126091 108 0 0 65 60 48 KIF2C 0 genome.wustl.edu 37 1 45226082 45226082 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 45226082 45226082 G A SNP KIF2C ENST00000372224 human ensembl 74_37 +1 known missense c.1498 p.A500T 0.997 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 57 0 0 20 20 50 MKNK1 0 genome.wustl.edu 37 1 47024370 47024370 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 47024370 47024370 C A SNP MKNK1 ENST00000371946 human ensembl 74_37 -1 known missense c.1275 p.E425D 0.956 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK1 HGNC ENSG00000079277 69 0 0 44 31 41.3333 MOB3C 0 genome.wustl.edu 37 1 47078650 47078650 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 47078650 47078650 G A SNP MOB3C ENST00000271139 human ensembl 74_37 -1 known missense c.500 p.P167L 0.974 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 55 0 0 32 22 40.7407 TAL1 0 genome.wustl.edu 37 1 47685538 47685538 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 47685538 47685538 C T SNP TAL1 ENST00000371883 human ensembl 74_37 -1 known missense c.856 p.V286M 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL1 HGNC ENSG00000162367 66 0 0 44 20 31.25 AJAP1 0 genome.wustl.edu 37 1 4829964 4829964 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 4829964 4829964 T C SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known missense c.881 p.I294T 1.000 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 205 0 0 114 63 35.5932 SSBP3 0 genome.wustl.edu 37 1 54694479 54694479 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 54694479 54694479 C T SNP SSBP3 ENST00000371320 human ensembl 74_37 -1 known silent c.948 p.S316 0.099 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 29 0 0 14 7 33.3333 PCSK9 0 genome.wustl.edu 37 1 55524222 55524222 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 55524222 55524222 C T SNP PCSK9 ENST00000302118 human ensembl 74_37 +1 known missense c.1405 p.R469W 0.000 NULL pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 76 0 0 46 18 28.125 PRKAA2 0 genome.wustl.edu 37 1 57169680 57169680 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 57169680 57169680 C T SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known silent c.825 p.Y275 0.997 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 162 0 0 101 63 38.4146 C1orf168 0 genome.wustl.edu 37 1 57258264 57258264 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 57258264 57258264 A G SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known silent c.222 p.L74 0.000 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 142 1 0.699301 75 54 41.8605 DAB1 0 genome.wustl.edu 37 1 57480759 57480759 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 57480759 57480759 G A SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.1340 p.T447M 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 82 0 0 51 17 25 C1orf87 0 genome.wustl.edu 37 1 60491137 60491137 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 60491137 60491137 G A SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known silent c.1063 p.L355 0.003 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 78 0 0 52 33 38.8235 CHD5 0 genome.wustl.edu 37 1 6209392 6209392 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 6209392 6209392 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.1075 p.D359N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 34 0 0 37 17 31.4815 DOCK7 0 genome.wustl.edu 37 1 62961311 62961311 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 62961311 62961311 A T SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.4938 p.D1646E 0.999 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 52 0 0 41 14 25.4545 ALG6 0 genome.wustl.edu 37 1 63876980 63876980 + Nonsense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 63876980 63876980 A T SNP ALG6 ENST00000371108 human ensembl 74_37 +1 known nonsense c.658 p.K220* 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 61 0 0 36 22 37.931 EFCAB7 0 genome.wustl.edu 37 1 64027499 64027499 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 64027499 64027499 G T SNP EFCAB7 ENST00000371088 human ensembl 74_37 +1 known missense c.1468 p.G490C 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB7 HGNC ENSG00000203965 30 0 0 26 15 36.5854 TNFRSF25 0 genome.wustl.edu 37 1 6521693 6521693 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 6521693 6521693 C T SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known missense c.1082 p.R361H 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 26 0 0 17 11 39.2857 TNFRSF25 0 genome.wustl.edu 37 1 6525249 6525249 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 6525249 6525249 C T SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known missense c.194 p.C65Y 0.097 smart_TNFR/NGFR_Cys_rich_reg pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 30 0 0 17 13 43.3333 KLHL21 0 genome.wustl.edu 37 1 6659214 6659214 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 6659214 6659214 G A SNP KLHL21 ENST00000377658 human ensembl 74_37 -1 known silent c.1320 p.C440 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL21 HGNC ENSG00000162413 39 0 0 28 15 34.8837 IL12RB2 0 genome.wustl.edu 37 1 67861595 67861595 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 67861595 67861595 C T SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known silent c.2412 p.N804 0.036 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 244 0 0 146 98 40.1639 LRRIQ3 0 genome.wustl.edu 37 1 74649219 74649219 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 74649219 74649219 G A SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known silent c.150 p.I50 0.997 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 28 0 0 23 14 37.8378 ST6GALNAC3 0 genome.wustl.edu 37 1 76779524 76779524 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 76779524 76779524 C T SNP ST6GALNAC3 ENST00000328299 human ensembl 74_37 +1 known missense c.53 p.A18V 0.958 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 107 0 0 47 25 34.7222 PER3 0 genome.wustl.edu 37 1 7887206 7887206 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 7887206 7887206 G A SNP PER3 ENST00000361923 human ensembl 74_37 +1 known silent c.2193 p.S731 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 45 0 0 16 21 56.7568 IFI44L 0 genome.wustl.edu 37 1 79102859 79102859 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 79102859 79102859 A G SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.1019 p.K340R 0.002 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 57 0 0 38 25 39.6825 SLC45A1 0 genome.wustl.edu 37 1 8390709 8390709 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 8390709 8390709 G A SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.1258 p.D420N 0.039 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 57 0 0 33 16 32.6531 PRKACB 0 genome.wustl.edu 37 1 84639014 84639014 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 84639014 84639014 C T SNP PRKACB ENST00000394838 human ensembl 74_37 +1 known missense c.13 p.R5C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACB HGNC ENSG00000142875 11 0 0 5 3 37.5 SLC2A7 0 genome.wustl.edu 37 1 9075181 9075181 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 9075181 9075181 C T SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known missense c.710 p.R237Q 0.002 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 22 0 0 11 10 47.619 TGFBR3 0 genome.wustl.edu 37 1 92178028 92178028 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 92178028 92178028 G A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known silent c.1938 p.N646 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 81 0 0 56 39 41.0526 EVI5 0 genome.wustl.edu 37 1 93202119 93202119 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 93202119 93202119 C T SNP EVI5 ENST00000543509 human ensembl 74_37 -1 known silent c.117 p.S39 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 165 0 0 94 54 36.4865 MTF2 0 genome.wustl.edu 37 1 93599728 93599728 + Nonsense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 93599728 93599728 C A SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known nonsense c.1400 p.S467* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 69 0 0 36 30 45.4545 CNNM1 0 genome.wustl.edu 37 10 101120624 101120624 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 101120624 101120624 C T SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known missense c.1750 p.R584W 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 237 1 0.420168 124 48 27.907 NKX2-3 0 genome.wustl.edu 37 10 101295035 101295035 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 101295035 101295035 G A SNP NKX2-3 ENST00000344586 human ensembl 74_37 +1 known missense c.652 p.A218T 0.991 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-3 HGNC ENSG00000119919 13 0 0 12 8 40 ENTPD7 0 genome.wustl.edu 37 10 101464363 101464363 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 101464363 101464363 A G SNP ENTPD7 ENST00000370489 human ensembl 74_37 +1 known missense c.1738 p.T580A 0.934 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 43 0 0 32 15 31.9149 FGF8 0 genome.wustl.edu 37 10 103531218 103531218 + Splice_Site SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 103531218 103531218 A G SNP FGF8 ENST00000320185 human ensembl 74_37 -1 known splice_site c.444+2 e5+2 1.000 - - - no_errors FGF8 HGNC ENSG00000107831 53 0 0 38 21 35.5932 PITX3 0 genome.wustl.edu 37 10 103991469 103991469 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 103991469 103991469 C T SNP PITX3 ENST00000370002 human ensembl 74_37 -1 known missense c.197 p.R66H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX3 HGNC ENSG00000107859 16 0 0 9 10 52.6316 GBF1 0 genome.wustl.edu 37 10 104128195 104128195 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 104128195 104128195 G A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.2860 p.A954T 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 93 0 0 41 24 36.9231 PDCD11 0 genome.wustl.edu 37 10 105162907 105162907 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 105162907 105162907 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.267 p.C89 0.999 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 148 1 0.671141 109 65 37.3563 PDCD11 0 genome.wustl.edu 37 10 105185248 105185248 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 105185248 105185248 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known nonsense c.3271 p.R1091* 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 60 0 0 42 18 30 PDCD11 0 genome.wustl.edu 37 10 105200090 105200090 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 105200090 105200090 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.4192 p.G1398R 0.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 133 0 0 96 48 33.3333 SH3PXD2A 0 genome.wustl.edu 37 10 105372688 105372688 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 105372688 105372688 C T SNP SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known missense c.1180 p.V394I 0.001 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 61 0 0 28 16 36.3636 TCF7L2 0 genome.wustl.edu 37 10 114912186 114912186 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 114912186 114912186 C T SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.1256 p.A419V 1.000 superfamily_HMG_box_dom,smart_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 150 0 0 105 57 35.1852 USP6NL 0 genome.wustl.edu 37 10 11504898 11504898 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 11504898 11504898 C T SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known missense c.2098 p.V700I 0.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 23 0 0 20 8 28.5714 AFAP1L2 0 genome.wustl.edu 37 10 116082999 116082999 + Missense_Mutation SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 116082999 116082999 C G SNP AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known missense c.496 p.A166P 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 16 0 0 5 4 44.4444 ECHDC3 0 genome.wustl.edu 37 10 11805348 11805348 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 11805348 11805348 G A SNP ECHDC3 ENST00000379215 human ensembl 74_37 +1 known silent c.717 p.K239 1.000 NULL pfam_Crotonase_core_superfam - no_errors ECHDC3 HGNC ENSG00000134463 71 0 0 36 24 40 VAX1 0 genome.wustl.edu 37 10 118896129 118896129 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 118896129 118896129 G T SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known missense c.283 p.L95M 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 80 0 0 50 6 10.7143 INPP5F 0 genome.wustl.edu 37 10 121582587 121582587 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 121582587 121582587 T C SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known silent c.2037 p.P679 0.987 pfam_Inositol_phosphatase pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 69 0 0 59 28 32.1839 WDR11 0 genome.wustl.edu 37 10 122645359 122645359 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 122645359 122645359 A G SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known missense c.1882 p.R628G 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 107 0 0 60 36 37.5 C10orf88 0 genome.wustl.edu 37 10 124713679 124713679 + Nonsense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 124713679 124713679 C A SNP C10orf88 ENST00000481909 human ensembl 74_37 -1 known nonsense c.16 p.E6* 0.004 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 8 0 0 12 2 14.2857 CTBP2 0 genome.wustl.edu 37 10 126727587 126727587 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 126727587 126727587 G A SNP CTBP2 ENST00000337195 human ensembl 74_37 -1 known nonsense c.37 p.R13* 1.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 95 0 0 58 36 38.2979 C10orf137 0 genome.wustl.edu 37 10 127438079 127438079 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 127438079 127438079 C T SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known silent c.3222 p.C1074 0.998 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 67 0 0 52 26 33.3333 DOCK1 0 genome.wustl.edu 37 10 128851058 128851058 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 128851058 128851058 G A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.2252 p.R751H 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 15 0 0 12 8 40 MKI67 0 genome.wustl.edu 37 10 129902379 129902379 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 129902379 129902379 T C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.7725 p.S2575 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 121 0 0 75 58 43.609 EBF3 0 genome.wustl.edu 37 10 131641447 131641447 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 131641447 131641447 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.1148 p.A383V 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 21 0 0 19 4 17.3913 SEPHS1 0 genome.wustl.edu 37 10 13364896 13364896 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 13364896 13364896 C T SNP SEPHS1 ENST00000327347 human ensembl 74_37 -1 known silent c.903 p.A301 0.495 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 50 0 0 23 16 41.0256 GPR123 0 genome.wustl.edu 37 10 134942560 134942560 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 134942560 134942560 G A SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.3385 p.D1129N 0.000 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 11 0 0 1 3 75 C1QL3 0 genome.wustl.edu 37 10 16562696 16562696 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 16562696 16562696 C T SNP C1QL3 ENST00000298943 human ensembl 74_37 -1 known silent c.369 p.T123 0.991 smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL3 HGNC ENSG00000165985 81 0 0 46 25 35.2113 SKIDA1 0 genome.wustl.edu 37 10 21804329 21804329 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 21804329 21804329 C T SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known missense c.2423 p.R808H 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 112 0 0 69 54 43.9024 MYO3A 0 genome.wustl.edu 37 10 26305796 26305796 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 26305796 26305796 G A SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.556 p.V186I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 88 0 0 52 23 30.6667 MYO3A 0 genome.wustl.edu 37 10 26446278 26446278 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 26446278 26446278 C T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known nonsense c.2833 p.Q945* 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 72 0 0 51 32 38.5542 GAD2 0 genome.wustl.edu 37 10 26570016 26570016 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 26570016 26570016 G T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.1236 p.E412D 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 96 0 0 43 26 37.6812 PTCHD3 0 genome.wustl.edu 37 10 27702415 27702415 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 27702415 27702415 G A SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known silent c.765 p.C255 0.983 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 57 0 0 20 27 57.4468 KIAA1462 0 genome.wustl.edu 37 10 30315305 30315305 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 30315305 30315305 G A SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.3772 p.R1258C 1.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 108 0 0 51 14 21.5385 ZNF438 0 genome.wustl.edu 37 10 31137669 31137669 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 31137669 31137669 T C SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known silent c.1665 p.K555 0.897 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 230 0 0 134 85 38.8128 CCDC7 0 genome.wustl.edu 37 10 32740786 32740786 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 32740786 32740786 T C SNP CCDC7 ENST00000277657 human ensembl 74_37 +1 known silent c.216 p.S72 0.016 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 39 0 0 32 17 34.6939 CCDC7 0 genome.wustl.edu 37 10 32833336 32833336 + RNA SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 32833336 32833336 G C SNP CCDC7 ENST00000471905 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC7 HGNC ENSG00000216937 19 0 0 16 7 30.4348 FZD8 0 genome.wustl.edu 37 10 35929087 35929087 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 35929087 35929087 G A SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known missense c.1271 p.A424V 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 29 0 0 23 12 34.2857 DIP2C 0 genome.wustl.edu 37 10 372999 372999 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 372999 372999 G A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.3871 p.R1291W 0.848 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 66 0 0 34 21 38.1818 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 65 0 0 46 7 13.2075 ENSG00000237389 0 genome.wustl.edu 37 10 44126808 44126808 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 44126808 44126808 G A SNP ENSG00000237389 ENST00000431956 human ensembl 74_37 -1 known rna NULL NULL 0.864 - - - no_errors RP11-402L1.4 Clone_based_vega_gene ENSG00000237389 10 0 0 6 6 50 NPY4R 0 genome.wustl.edu 37 10 47087071 47087071 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 47087071 47087071 G A SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known silent c.288 p.P96 0.025 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 206 0 0 159 23 12.6374 AGAP7 0 genome.wustl.edu 37 10 51464747 51464747 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 51464747 51464747 C T SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.1709 p.R570Q 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 27 0 0 15 13 46.4286 AGAP6 0 genome.wustl.edu 37 10 51754188 51754188 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 51754188 51754188 A G SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.326 p.H109R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 58 0 0 89 9 9.18367 PRKG1 0 genome.wustl.edu 37 10 53667314 53667314 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 53667314 53667314 C T SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known missense c.746 p.A249V 1.000 pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cGMP_dep_kinase,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 107 0 0 72 41 36.2832 PCDH15 0 genome.wustl.edu 37 10 56077099 56077099 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 56077099 56077099 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.808 p.L270F 0.926 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 97 0 0 69 40 36.6972 FAM208B 0 genome.wustl.edu 37 10 5762725 5762725 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 5762725 5762725 C T SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.34 p.R12C 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 25 0 0 15 10 40 RTKN2 0 genome.wustl.edu 37 10 63959571 63959571 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 63959571 63959571 T C SNP RTKN2 ENST00000373789 human ensembl 74_37 -1 known silent c.1236 p.S412 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 90 0 0 55 21 27.6316 JMJD1C 0 genome.wustl.edu 37 10 64967560 64967560 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 64967560 64967560 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.3869 p.H1290R 0.885 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 149 0 0 94 44 31.8841 PRKCQ 0 genome.wustl.edu 37 10 6533724 6533724 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 6533724 6533724 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known silent c.711 p.Y237 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 93 0 0 76 37 32.7434 H2AFY2 0 genome.wustl.edu 37 10 71835526 71835526 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 71835526 71835526 A G SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known missense c.112 p.K38E 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,pirsf_Core_histone_macro-H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 47 0 0 30 17 36.1702 ADAMTS14 0 genome.wustl.edu 37 10 72495033 72495033 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 72495033 72495033 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known silent c.1470 p.G490 0.991 smart_ADAM_Cys-rich pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 72 0 0 27 15 35.7143 UNC5B 0 genome.wustl.edu 37 10 73058904 73058904 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 73058904 73058904 C T SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.2708 p.T903M 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 231 0 0 134 84 38.5321 PSAP 0 genome.wustl.edu 37 10 73594249 73594249 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 73594249 73594249 C T SNP PSAP ENST00000394934 human ensembl 74_37 -1 known silent c.54 p.P18 0.004 pirsf_Saposin_chordata,prints_Saposin,pfscan_SapA pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 27 0 0 20 4 16.6667 PPP3CB 0 genome.wustl.edu 37 10 75238307 75238307 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 75238307 75238307 G A SNP PPP3CB ENST00000394829 human ensembl 74_37 -1 known nonsense c.361 p.R121* 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 61 0 0 39 32 45.0704 KAT6B 0 genome.wustl.edu 37 10 76789460 76789460 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 76789460 76789460 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known silent c.4878 p.Y1626 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 114 1 0.869565 55 53 49.0741 ZNF503 0 genome.wustl.edu 37 10 77158594 77158594 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 77158594 77158594 C T SNP ZNF503 ENST00000372524 human ensembl 74_37 -1 known silent c.1854 p.P618 0.770 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF503 HGNC ENSG00000165655 18 0 0 8 5 38.4615 DLG5 0 genome.wustl.edu 37 10 79553804 79553804 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 79553804 79553804 G A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.5618 p.A1873V 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 183 0 0 144 10 6.49351 TAF3 0 genome.wustl.edu 37 10 8006080 8006080 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 8006080 8006080 G A SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.607 p.D203N 0.997 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 80 0 0 49 44 47.3118 ZMIZ1 0 genome.wustl.edu 37 10 81053363 81053363 + Missense_Mutation SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 81053363 81053363 C G SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.1183 p.P395A 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 134 0 0 70 48 40.678 SFTPD 0 genome.wustl.edu 37 10 81701716 81701716 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 81701716 81701716 C T SNP SFTPD ENST00000372292 human ensembl 74_37 -1 known missense c.544 p.A182T 0.975 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC ENSG00000133661 118 0 0 61 40 39.604 SH2D4B 0 genome.wustl.edu 37 10 82403841 82403841 + Nonstop_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 82403841 82403841 A T SNP SH2D4B ENST00000470604 human ensembl 74_37 +1 known nonstop c.1296 p.*432Y 0.993 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D4B HGNC ENSG00000178217 36 0 0 25 16 39.0244 CCSER2 0 genome.wustl.edu 37 10 86132007 86132007 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 86132007 86132007 C T SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known missense c.1199 p.S400L 0.991 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 45 0 0 32 22 40.7407 BMPR1A 0 genome.wustl.edu 37 10 88676973 88676973 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 88676973 88676973 G A SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known nonsense c.758 p.W253* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 48 0 0 29 28 49.1228 ENSG00000271880 0 genome.wustl.edu 37 10 88768527 88768527 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 88768527 88768527 G A SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 0.489 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 203 0 0 124 42 25.3012 CYP26A1 0 genome.wustl.edu 37 10 94834693 94834693 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 94834693 94834693 G A SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.572 p.R191H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 83 0 0 42 31 42.4658 FFAR4 0 genome.wustl.edu 37 10 95326941 95326941 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 95326941 95326941 G A SNP FFAR4 ENST00000371483 human ensembl 74_37 +1 known missense c.464 p.R155Q 0.368 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors FFAR4 HGNC ENSG00000186188 14 0 0 14 14 50 SORBS1 0 genome.wustl.edu 37 10 97117446 97117446 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 97117446 97117446 G A SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known silent c.1371 p.D457 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 71 0 0 49 25 33.7838 ALDH18A1 0 genome.wustl.edu 37 10 97371130 97371130 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 97371130 97371130 G A SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known nonsense c.1993 p.R665* 1.000 superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 262 0 0 134 97 41.9913 PIK3AP1 0 genome.wustl.edu 37 10 98469322 98469322 + Splice_Site SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 98469322 98469322 A G SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known splice_site c.430+2 e2+2 1.000 - - - no_errors PIK3AP1 HGNC ENSG00000155629 119 0 0 110 6 5.17241 RRP12 0 genome.wustl.edu 37 10 99139503 99139503 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 99139503 99139503 G A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.1558 p.R520C 1.000 pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 46 0 0 25 17 40.4762 SFRP5 0 genome.wustl.edu 37 10 99531377 99531377 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 99531377 99531377 G A SNP SFRP5 ENST00000266066 human ensembl 74_37 -1 known missense c.214 p.R72W 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP5 HGNC ENSG00000120057 37 0 0 24 16 40 CRTAC1 0 genome.wustl.edu 37 10 99625397 99625397 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 99625397 99625397 C T SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.1894 p.A632T 0.839 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 25 0 0 11 10 47.619 PGR 0 genome.wustl.edu 37 11 100933308 100933308 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 100933308 100933308 A G SNP PGR ENST00000325455 human ensembl 74_37 -1 known silent c.2082 p.I694 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 233 0 0 142 93 39.5745 PGR 0 genome.wustl.edu 37 11 100998809 100998809 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 100998809 100998809 G A SNP PGR ENST00000325455 human ensembl 74_37 -1 known silent c.993 p.G331 0.014 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 36 0 0 20 23 53.4884 PGR 0 genome.wustl.edu 37 11 100999101 100999101 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 100999101 100999101 C A SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.701 p.G234V 0.000 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 24 0 0 17 4 19.0476 MUC6 0 genome.wustl.edu 37 11 1013590 1013590 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 1013590 1013590 A G SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.7186 p.C2396R 0.994 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 8 0 0 2 3 60 MUC2 0 genome.wustl.edu 37 11 1084335 1084335 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 1084335 1084335 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.2467 p.V823I 0.001 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 49 0 0 20 13 39.3939 MUC2 0 genome.wustl.edu 37 11 1096474 1096474 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 1096474 1096474 C A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.6499 p.P2167T 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 99 0 0 45 27 37.5 RDX 0 genome.wustl.edu 37 11 110128524 110128524 + Silent SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 110128524 110128524 A C SNP RDX ENST00000530749 human ensembl 74_37 -1 known silent c.666 p.A222 0.517 pirsf_ERM,pfam_FERM_PH-like_C,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 126 0 0 96 52 35.1351 NXPE1 0 genome.wustl.edu 37 11 114393092 114393092 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 114393092 114393092 T C SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.1242 p.I414M 0.906 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 116 0 0 71 33 31.7308 APOA4 0 genome.wustl.edu 37 11 116692194 116692194 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 116692194 116692194 C T SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known missense c.580 p.V194M 0.544 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 243 1 0.409836 145 85 36.9565 APOA1 0 genome.wustl.edu 37 11 116707074 116707074 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 116707074 116707074 C T SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known missense c.254 p.R85H 0.000 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 64 0 0 46 18 28.125 SIK3 0 genome.wustl.edu 37 11 116719913 116719913 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 116719913 116719913 G A SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.3598 p.R1200C 0.005 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 87 0 0 51 23 31.0811 SIK3 0 genome.wustl.edu 37 11 116745890 116745890 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 116745890 116745890 C A SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.1411 p.G471C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 33 0 0 27 19 41.3043 SIK3 0 genome.wustl.edu 37 11 116746643 116746643 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 116746643 116746643 C T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.1178 p.R393H 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 87 0 0 58 40 40.8163 IL10RA 0 genome.wustl.edu 37 11 117860269 117860269 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 117860269 117860269 C T SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known missense c.301 p.R101W 0.998 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 76 0 0 56 4 6.66667 MPZL2 0 genome.wustl.edu 37 11 118130911 118130911 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 118130911 118130911 A G SNP MPZL2 ENST00000438295 human ensembl 74_37 -1 known missense c.442 p.F148L 0.997 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL2 HGNC ENSG00000149573 102 0 0 71 41 36.6071 KMT2A 0 genome.wustl.edu 37 11 118365419 118365419 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 118365419 118365419 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.5291 p.R1764H 1.000 superfamily_Bromodomain,smart_Bromodomain,pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 34 0 0 26 8 23.5294 PHLDB1 0 genome.wustl.edu 37 11 118499081 118499081 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 118499081 118499081 T C SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known silent c.1542 p.R514 0.037 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 16 0 0 13 15 53.5714 RNF26 0 genome.wustl.edu 37 11 119206681 119206681 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 119206681 119206681 C A SNP RNF26 ENST00000311413 human ensembl 74_37 +1 known silent c.849 p.G283 0.035 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 56 0 0 63 5 7.35294 MICAL2 0 genome.wustl.edu 37 11 12247894 12247894 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 12247894 12247894 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.1865 p.R622Q 1.000 superfamily_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 74 0 0 37 27 42.1875 MICAL2 0 genome.wustl.edu 37 11 12247914 12247914 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 12247914 12247914 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.1885 p.V629M 0.695 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 65 0 0 38 20 34.4828 C11orf63 0 genome.wustl.edu 37 11 122774667 122774667 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 122774667 122774667 C T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.379 p.R127C 0.795 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 228 0 0 158 111 41.2639 OR10S1 0 genome.wustl.edu 37 11 123848364 123848364 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 123848364 123848364 A G SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.35 p.M12T 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 113 0 0 64 48 42.8571 OR8D1 0 genome.wustl.edu 37 11 124180467 124180467 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 124180467 124180467 A G SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known silent c.196 p.L66 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 58 0 0 48 21 30.4348 ROBO3 0 genome.wustl.edu 37 11 124744032 124744032 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 124744032 124744032 C T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known silent c.1851 p.S617 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 154 0 0 88 44 33.3333 ROBO3 0 genome.wustl.edu 37 11 124748587 124748587 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 124748587 124748587 C A SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.3428 p.S1143Y 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 40 0 0 19 16 45.7143 MUC5B 0 genome.wustl.edu 37 11 1278846 1278846 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 1278846 1278846 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.16365 p.D5455 0.000 smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 32 0 0 12 10 45.4545 ADAMTS8 0 genome.wustl.edu 37 11 130278465 130278465 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 130278465 130278465 C T SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.1993 p.G665S 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 99 0 0 66 27 29.0323 JAM3 0 genome.wustl.edu 37 11 133938946 133938946 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 133938946 133938946 C T SNP JAM3 ENST00000529443 human ensembl 74_37 +1 known missense c.103 p.R35C 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 19 0 0 17 6 26.087 MRGPRX1 0 genome.wustl.edu 37 11 18955440 18955440 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 18955440 18955440 C T SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known missense c.892 p.A298T 0.091 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 65 0 0 47 23 32.8571 E2F8 0 genome.wustl.edu 37 11 19256596 19256596 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 19256596 19256596 C T SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known missense c.461 p.R154H 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 22 0 0 16 5 23.8095 NAV2 0 genome.wustl.edu 37 11 20104605 20104605 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 20104605 20104605 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.5555 p.A1852V 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 54 0 0 28 20 41.6667 ANO5 0 genome.wustl.edu 37 11 22272355 22272355 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 22272355 22272355 A T SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.1082 p.D361V 0.996 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 108 0 0 55 44 44.4444 RPL26P30 0 genome.wustl.edu 37 11 2356954 2356954 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 2356954 2356954 G A SNP RPL26P30 ENST00000602923 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL26P30 HGNC ENSG00000236264 166 0 0 97 75 43.6047 BDNF 0 genome.wustl.edu 37 11 27680000 27680000 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 27680000 27680000 G A SNP BDNF ENST00000438929 human ensembl 74_37 -1 known missense c.358 p.R120W 0.998 NULL pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 126 0 0 67 53 44.1667 OSBPL5 0 genome.wustl.edu 37 11 3125509 3125509 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 3125509 3125509 G A SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known silent c.1158 p.R386 0.104 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 57 0 0 34 25 42.3729 QSER1 0 genome.wustl.edu 37 11 32953667 32953667 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 32953667 32953667 C T SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.476 p.S159F 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 130 0 0 92 59 39.0728 C11orf74 0 genome.wustl.edu 37 11 36669606 36669606 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 36669606 36669606 C T SNP C11orf74 ENST00000334307 human ensembl 74_37 +1 known silent c.399 p.S133 0.000 NULL NULL - no_errors C11orf74 HGNC ENSG00000166352 161 0 0 107 69 39.2045 B4GALNT4 0 genome.wustl.edu 37 11 375731 375731 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 375731 375731 G A SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.943 p.A315T 0.980 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 50 0 0 44 5 10.2041 SIGIRR 0 genome.wustl.edu 37 11 406484 406484 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 406484 406484 G A SNP SIGIRR ENST00000382520 human ensembl 74_37 -1 known nonsense c.934 p.Q312* 0.305 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors SIGIRR HGNC ENSG00000185187 104 0 0 60 9 13.0435 RRM1 0 genome.wustl.edu 37 11 4148290 4148290 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 4148290 4148290 G A SNP RRM1 ENST00000300738 human ensembl 74_37 +1 known missense c.1496 p.R499H 1.000 pfam_RNR_lg_C,prints_RNR_lg_C,tigrfam_NrdE_NrdA pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 136 0 0 78 36 31.5789 TTC17 0 genome.wustl.edu 37 11 43427343 43427343 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 43427343 43427343 G A SNP TTC17 ENST00000039989 human ensembl 74_37 +1 known missense c.1603 p.E535K 0.998 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 94 0 0 67 32 32.3232 TRIM21 0 genome.wustl.edu 37 11 4406852 4406852 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 4406852 4406852 C T SNP TRIM21 ENST00000254436 human ensembl 74_37 -1 known missense c.1091 p.R364H 0.041 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 22 0 0 8 6 42.8571 AMBRA1 0 genome.wustl.edu 37 11 46419316 46419316 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 46419316 46419316 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.3581 p.T1194M 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 57 0 0 29 16 35.5556 CKAP5 0 genome.wustl.edu 37 11 46804910 46804910 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 46804910 46804910 T C SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known silent c.2163 p.S721 0.998 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 42 0 0 42 22 34.375 CKAP5 0 genome.wustl.edu 37 11 46819663 46819663 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 46819663 46819663 C T SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known silent c.1143 p.L381 0.330 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 124 0 0 91 51 35.9155 MADD 0 genome.wustl.edu 37 11 47312287 47312287 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 47312287 47312287 G A SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.3281 p.R1094Q 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 59 0 0 30 17 36.1702 CELF1 0 genome.wustl.edu 37 11 47504307 47504307 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 47504307 47504307 G A SNP CELF1 ENST00000532048 human ensembl 74_37 -1 known silent c.705 p.S235 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 68 0 0 43 32 42.6667 C1QTNF4 0 genome.wustl.edu 37 11 47612294 47612294 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 47612294 47612294 C T SNP C1QTNF4 ENST00000302514 human ensembl 74_37 -1 known silent c.69 p.P23 0.005 smart_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,prints_C1q,pfscan_C1q - no_errors C1QTNF4 HGNC ENSG00000172247 15 0 0 11 8 42.1053 OR4C13 0 genome.wustl.edu 37 11 49974073 49974073 + Nonsense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 49974073 49974073 C A SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known nonsense c.99 p.Y33* 0.015 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 151 0 0 180 10 5.26316 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 25 0 0 41 23 35.9375 OR4C16 0 genome.wustl.edu 37 11 55339828 55339828 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 55339828 55339828 A G SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.225 p.I75M 0.000 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 OR4C16 HGNC ENSG00000181935 163 0 0 105 67 38.9535 OR52H1 0 genome.wustl.edu 37 11 5566416 5566416 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 5566416 5566416 T C SNP OR52H1 ENST00000322653 human ensembl 74_37 -1 known missense c.338 p.H113R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC ENSG00000181616 80 0 0 58 24 29.2683 OR8H1 0 genome.wustl.edu 37 11 56058538 56058538 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 56058538 56058538 T C SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.1 p.M1V 0.054 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 73 0 0 64 28 30.4348 OR8J1 0 genome.wustl.edu 37 11 56128015 56128015 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 56128015 56128015 C T SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known missense c.293 p.A98V 0.928 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 98 0 0 57 31 35.2273 OR8J1 0 genome.wustl.edu 37 11 56128086 56128086 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 56128086 56128086 C T SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known missense c.364 p.R122C 0.997 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 OR8J1 HGNC ENSG00000172487 86 0 0 60 29 32.5843 OR9Q1 0 genome.wustl.edu 37 11 57947085 57947085 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 57947085 57947085 G A SNP OR9Q1 ENST00000335397 human ensembl 74_37 +1 known missense c.169 p.A57T 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q1 HGNC ENSG00000186509 193 0 0 163 17 9.44444 OR52E4 0 genome.wustl.edu 37 11 5905781 5905781 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 5905781 5905781 T C SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known missense c.259 p.F87L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 135 0 0 76 59 43.7037 MS4A14 0 genome.wustl.edu 37 11 60183894 60183894 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 60183894 60183894 C T SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.1453 p.R485W 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 93 0 0 66 45 40.5405 MS4A5 0 genome.wustl.edu 37 11 60197139 60197139 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 60197139 60197139 G A SNP MS4A5 ENST00000534071 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MS4A5 HGNC ENSG00000166930 110 0 0 81 41 33.6066 OR56B3P 0 genome.wustl.edu 37 11 6149997 6149997 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 6149997 6149997 C T SNP OR56B3P ENST00000316517 human ensembl 74_37 +1 known missense c.158 p.T53I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR56B3P HGNC ENSG00000180913 28 0 0 22 11 33.3333 HNRNPUL2 0 genome.wustl.edu 37 11 62490153 62490153 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 62490153 62490153 G A SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known nonsense c.1015 p.R339* 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 89 0 0 63 40 38.835 ZBTB3 0 genome.wustl.edu 37 11 62519825 62519825 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 62519825 62519825 G A SNP ZBTB3 ENST00000394807 human ensembl 74_37 -1 known missense c.1462 p.R488W 0.728 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 71 0 0 34 21 38.1818 CNGA4 0 genome.wustl.edu 37 11 6261451 6261451 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 6261451 6261451 C T SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.427 p.R143C 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 205 0 0 119 63 34.6154 FERMT3 0 genome.wustl.edu 37 11 63990891 63990891 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 63990891 63990891 G A SNP FERMT3 ENST00000279227 human ensembl 74_37 +1 known missense c.1931 p.R644Q 1.000 NULL pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 53 0 0 42 18 30 CCDC88B 0 genome.wustl.edu 37 11 64112079 64112079 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 64112079 64112079 C T SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.2066 p.T689M 0.001 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 21 0 0 6 3 33.3333 APBB1 0 genome.wustl.edu 37 11 6416782 6416782 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 6416782 6416782 C T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known silent c.2115 p.L705 0.006 NULL pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 17 0 0 10 8 44.4444 NRXN2 0 genome.wustl.edu 37 11 64390500 64390500 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 64390500 64390500 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.3898 p.R1300W 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 22 0 0 17 5 22.7273 CDC42BPG 0 genome.wustl.edu 37 11 64597667 64597667 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 64597667 64597667 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.3366 p.N1122 0.830 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 25 0 0 20 10 33.3333 SAC3D1 0 genome.wustl.edu 37 11 64812092 64812092 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 64812092 64812092 A G SNP SAC3D1 ENST00000398846 human ensembl 74_37 +1 known missense c.970 p.T324A 0.003 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors SAC3D1 HGNC ENSG00000168061 77 0 0 64 4 5.88235 SYVN1 0 genome.wustl.edu 37 11 64897648 64897648 + Splice_Site SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 64897648 64897648 C T SNP SYVN1 ENST00000377190 human ensembl 74_37 -1 known splice_site c.1235-1 e12-1 0.010 - - - no_errors SYVN1 HGNC ENSG00000162298 22 0 0 17 11 39.2857 MALAT1 0 genome.wustl.edu 37 11 65272702 65272702 + RNA SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 65272702 65272702 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.919 - - - no_errors MALAT1 HGNC ENSG00000251562 40 0 0 23 15 39.4737 EHBP1L1 0 genome.wustl.edu 37 11 65350743 65350743 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 65350743 65350743 G A SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.2600 p.R867H 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 45 0 0 28 18 39.1304 SIPA1 0 genome.wustl.edu 37 11 65417119 65417119 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 65417119 65417119 T C SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known silent c.2613 p.A871 0.091 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 115 0 0 67 36 34.9515 CST6 0 genome.wustl.edu 37 11 65779667 65779667 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 65779667 65779667 C T SNP CST6 ENST00000312134 human ensembl 74_37 +1 known missense c.152 p.A51V 0.016 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST6 HGNC ENSG00000175315 8 0 0 6 3 33.3333 DNHD1 0 genome.wustl.edu 37 11 6592278 6592278 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 6592278 6592278 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known silent c.13536 p.G4512 0.006 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 52 0 0 32 11 25.5814 CD248 0 genome.wustl.edu 37 11 66084119 66084119 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 66084119 66084119 G A SNP CD248 ENST00000311330 human ensembl 74_37 -1 known missense c.380 p.P127L 0.991 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 60 0 0 34 15 30.6122 SPTBN2 0 genome.wustl.edu 37 11 66458926 66458926 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 66458926 66458926 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.5394 p.A1798 0.023 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 32 0 0 10 16 61.5385 DCHS1 0 genome.wustl.edu 37 11 6653519 6653519 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 6653519 6653519 A G SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.3224 p.V1075A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 106 0 0 47 34 41.9753 PC 0 genome.wustl.edu 37 11 66639172 66639172 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 66639172 66639172 T C SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.307 p.I103V 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 12 0 0 4 4 50 RHOD 0 genome.wustl.edu 37 11 66838982 66838982 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 66838982 66838982 C T SNP RHOD ENST00000308831 human ensembl 74_37 +1 known missense c.542 p.A181V 0.008 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RHOD HGNC ENSG00000173156 44 0 0 18 8 30.7692 CABP4 0 genome.wustl.edu 37 11 67225916 67225916 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 67225916 67225916 G A SNP CABP4 ENST00000325656 human ensembl 74_37 +1 known silent c.726 p.P242 0.030 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP4 HGNC ENSG00000175544 100 0 0 58 48 45.283 TBX10 0 genome.wustl.edu 37 11 67400555 67400555 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 67400555 67400555 T C SNP TBX10 ENST00000335385 human ensembl 74_37 -1 known missense c.569 p.H190R 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 236 0 0 125 74 37.1859 SUV420H1 0 genome.wustl.edu 37 11 67934466 67934466 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 67934466 67934466 T C SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.1157 p.Q386R 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 52 0 0 30 25 45.4545 LRP5 0 genome.wustl.edu 37 11 68153968 68153968 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 68153968 68153968 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known silent c.1200 p.A400 0.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 75 0 0 42 21 33.3333 LRP5 0 genome.wustl.edu 37 11 68204455 68204455 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 68204455 68204455 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.4099 p.E1367K 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 89 0 0 44 27 38.0282 MTL5 0 genome.wustl.edu 37 11 68506209 68506209 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 68506209 68506209 C T SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known silent c.876 p.S292 0.002 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 71 0 0 42 22 34.375 ARAP1 0 genome.wustl.edu 37 11 72423533 72423533 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 72423533 72423533 G A SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known silent c.828 p.D276 0.011 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 187 0 0 102 76 42.6966 P2RY2 0 genome.wustl.edu 37 11 72946018 72946018 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 72946018 72946018 C T SNP P2RY2 ENST00000311131 human ensembl 74_37 +1 known missense c.814 p.R272C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_P2Y4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt - no_errors P2RY2 HGNC ENSG00000175591 76 0 0 40 17 29.8246 P2RY6 0 genome.wustl.edu 37 11 73008366 73008366 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 73008366 73008366 C T SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known missense c.803 p.T268M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y3_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 146 0 0 74 40 35.0877 SYT9 0 genome.wustl.edu 37 11 7334764 7334764 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 7334764 7334764 C T SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known silent c.636 p.D212 0.961 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 104 0 0 55 36 39.5604 ENSG00000255847 0 genome.wustl.edu 37 11 73681282 73681282 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 73681282 73681282 G A SNP ENSG00000255847 ENST00000537019 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-167N4.2 Clone_based_vega_gene ENSG00000255847 16 0 0 12 10 45.4545 PPME1 0 genome.wustl.edu 37 11 73950295 73950295 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 73950295 73950295 C T SNP PPME1 ENST00000328257 human ensembl 74_37 +1 known silent c.828 p.D276 1.000 pirsf_PPase_methylesterase_euk pirsf_PPase_methylesterase_euk - no_errors PPME1 HGNC ENSG00000214517 21 0 0 18 7 28 XRRA1 0 genome.wustl.edu 37 11 74638466 74638466 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 74638466 74638466 G A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known silent c.468 p.Y156 0.910 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 32 0 0 26 13 33.3333 ARRB1 0 genome.wustl.edu 37 11 74994515 74994515 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 74994515 74994515 A G SNP ARRB1 ENST00000393505 human ensembl 74_37 -1 known missense c.170 p.L57P 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ENSG00000137486 31 0 0 25 11 30.5556 MAP6 0 genome.wustl.edu 37 11 75298331 75298331 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 75298331 75298331 C A SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known missense c.2215 p.G739C 0.001 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 167 0 0 153 15 8.92857 OMP 0 genome.wustl.edu 37 11 76814175 76814175 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 76814175 76814175 G A SNP OMP ENST00000529803 human ensembl 74_37 +1 known missense c.290 p.R97H 1.000 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 40 0 0 16 10 38.4615 ME3 0 genome.wustl.edu 37 11 86209065 86209065 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 86209065 86209065 G A SNP ME3 ENST00000359636 human ensembl 74_37 -1 known silent c.645 p.C215 0.022 pfam_Malic_N pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 123 0 0 70 44 38.5965 CTSC 0 genome.wustl.edu 37 11 88068128 88068128 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 88068128 88068128 A G SNP CTSC ENST00000227266 human ensembl 74_37 -1 known missense c.295 p.Y99H 1.000 pfam_CathepsinC_exc pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 58 0 0 39 17 30.3571 GRM5 0 genome.wustl.edu 37 11 88583098 88583098 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 88583098 88583098 G A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.887 p.A296V 0.913 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 101 1 0.980392 56 23 29.1139 FAT3 0 genome.wustl.edu 37 11 92507279 92507279 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 92507279 92507279 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.4268 p.A1423V 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 59 0 0 40 17 29.8246 FAT3 0 genome.wustl.edu 37 11 92533807 92533807 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 92533807 92533807 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7628 p.R2543Q 0.984 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 23 0 0 10 5 33.3333 FUT4 0 genome.wustl.edu 37 11 94278208 94278208 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 94278208 94278208 C T SNP FUT4 ENST00000358752 human ensembl 74_37 +1 known silent c.909 p.S303 0.682 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT4 HGNC ENSG00000196371 42 0 0 23 9 28.125 UTP20 0 genome.wustl.edu 37 12 101736357 101736357 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 101736357 101736357 C T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.4235 p.T1412M 0.008 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 25 0 0 13 13 50 STAB2 0 genome.wustl.edu 37 12 104139055 104139055 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 104139055 104139055 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.6136 p.V2046F 1.000 smart_EGF_laminin pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 24 0 0 15 9 37.5 NUAK1 0 genome.wustl.edu 37 12 106461103 106461103 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 106461103 106461103 G A SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1463 p.S488L 0.987 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 92 0 0 56 28 33.3333 FICD 0 genome.wustl.edu 37 12 108910878 108910878 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 108910878 108910878 G A SNP FICD ENST00000552695 human ensembl 74_37 +1 known silent c.129 p.P43 0.670 NULL pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 37 0 0 26 17 39.5349 MYO1H 0 genome.wustl.edu 37 12 109839056 109839056 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 109839056 109839056 G A SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known silent c.681 p.Q227 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 21 0 0 16 11 40.7407 ATXN2 0 genome.wustl.edu 37 12 111908405 111908405 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 111908405 111908405 G T SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.3140 p.P1047Q 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 123 0 0 69 37 34.9057 RPH3A 0 genome.wustl.edu 37 12 113328777 113328777 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 113328777 113328777 G A SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1744 p.A582T 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 38 0 0 21 13 38.2353 DTX1 0 genome.wustl.edu 37 12 113515236 113515236 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 113515236 113515236 G A SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.267 p.M89I 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 65 0 0 31 20 39.2157 DDX54 0 genome.wustl.edu 37 12 113601049 113601049 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 113601049 113601049 G A SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.1969 p.R657W 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 60 0 0 28 28 50 DDX54 0 genome.wustl.edu 37 12 113603823 113603823 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 113603823 113603823 C A SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.1429 p.D477Y 0.984 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 61 0 0 39 13 25 IQCD 0 genome.wustl.edu 37 12 113645772 113645772 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 113645772 113645772 G A SNP IQCD ENST00000416617 human ensembl 74_37 -1 known missense c.200 p.T67I 0.615 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 201 0 0 114 72 38.7097 MAP1LC3B2 0 genome.wustl.edu 37 12 117013778 117013778 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 117013778 117013778 C T SNP MAP1LC3B2 ENST00000306985 human ensembl 74_37 +1 known missense c.31 p.R11C 0.183 NULL pfam_Atg8_fam,pfam_Atg12 - no_errors MAP1LC3B2 HGNC ENSG00000171471 97 0 0 54 57 51.3514 NOS1 0 genome.wustl.edu 37 12 117672561 117672561 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 117672561 117672561 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3044 p.R1015Q 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 22 0 0 9 8 47.0588 KSR2 0 genome.wustl.edu 37 12 118198971 118198971 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 118198971 118198971 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.831 p.P277 0.142 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 299 0 0 149 99 39.9194 CCDC60 0 genome.wustl.edu 37 12 119916943 119916943 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 119916943 119916943 C T SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.386 p.T129I 0.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 55 0 0 30 19 38.7755 GCN1L1 0 genome.wustl.edu 37 12 120576636 120576636 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 120576636 120576636 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.6019 p.V2007M 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 191 0 0 112 53 32.1212 SPPL3 0 genome.wustl.edu 37 12 121229361 121229361 + Splice_Site SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 121229361 121229361 C A SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known splice_site c.102-1 e3-1 1.000 - - - no_errors SPPL3 HGNC ENSG00000157837 51 0 0 27 24 47.0588 RNF34 0 genome.wustl.edu 37 12 121868063 121868063 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 121868063 121868063 G A SNP RNF34 ENST00000392464 human ensembl 74_37 +1 putative silent c.1290 p.P430 0.016 NULL superfamily_Znf_FYVE_PHD - no_errors RNF34 HGNC ENSG00000170633 68 0 0 45 30 40 KDM2B 0 genome.wustl.edu 37 12 121932375 121932375 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 121932375 121932375 G A SNP KDM2B ENST00000538046 human ensembl 74_37 -1 putative missense c.1471 p.R491C 0.000 NULL NULL - no_errors KDM2B HGNC ENSG00000089094 23 0 0 13 10 43.4783 HPD 0 genome.wustl.edu 37 12 122295334 122295334 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 122295334 122295334 G A SNP HPD ENST00000289004 human ensembl 74_37 -1 known missense c.98 p.T33M 0.980 pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase - no_errors HPD HGNC ENSG00000158104 69 0 0 52 30 36.5854 WDR66 0 genome.wustl.edu 37 12 122439464 122439464 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 122439464 122439464 C T SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known silent c.3297 p.P1099 0.030 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 110 0 0 53 42 44.2105 HCAR3 0 genome.wustl.edu 37 12 123200619 123200619 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 123200619 123200619 C T SNP HCAR3 ENST00000528880 human ensembl 74_37 -1 known silent c.666 p.R222 0.111 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HCAR3 HGNC ENSG00000255398 37 0 0 29 12 29.2683 HIP1R 0 genome.wustl.edu 37 12 123334437 123334437 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 123334437 123334437 C T SNP HIP1R ENST00000253083 human ensembl 74_37 +1 known missense c.373 p.R125C 1.000 pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 59 0 0 41 8 16.3265 PITPNM2 0 genome.wustl.edu 37 12 123472180 123472180 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 123472180 123472180 C T SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known silent c.3141 p.P1047 0.115 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 64 0 0 30 14 31.8182 FZD10 0 genome.wustl.edu 37 12 130647705 130647705 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 130647705 130647705 C T SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.218 p.P73L 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 73 0 0 60 8 11.7647 RIMBP2 0 genome.wustl.edu 37 12 130926898 130926898 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 130926898 130926898 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.948 p.G316 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 144 0 0 104 59 36.1963 EP400 0 genome.wustl.edu 37 12 132445535 132445535 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 132445535 132445535 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.371 p.T124M 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 15 0 0 10 9 47.3684 GOLGA3 0 genome.wustl.edu 37 12 133362988 133362988 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 133362988 133362988 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known silent c.3060 p.A1020 0.001 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 34 0 0 21 13 38.2353 GRIN2B 0 genome.wustl.edu 37 12 13717474 13717474 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 13717474 13717474 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.2698 p.R900C 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 188 0 0 130 73 35.9606 PLEKHA5 0 genome.wustl.edu 37 12 19418767 19418767 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 19418767 19418767 C T SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.694 p.R232C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 85 0 0 63 28 30.7692 PDE3A 0 genome.wustl.edu 37 12 20523104 20523104 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 20523104 20523104 G A SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.886 p.V296M 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 35 0 0 32 21 39.6226 DCP1B 0 genome.wustl.edu 37 12 2058419 2058419 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 2058419 2058419 C T SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.1606 p.V536I 0.000 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 51 0 0 23 14 37.8378 SLCO1C1 0 genome.wustl.edu 37 12 20874789 20874789 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 20874789 20874789 T G SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.827 p.L276R 1.000 pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 40 0 0 31 15 32.6087 SLCO1A2 0 genome.wustl.edu 37 12 21453486 21453486 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 21453486 21453486 G A SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known missense c.706 p.P236S 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 24 0 0 17 12 41.3793 ST8SIA1 0 genome.wustl.edu 37 12 22408261 22408261 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 22408261 22408261 C A SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known missense c.444 p.K148N 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 134 0 0 87 50 36.4964 ST8SIA1 0 genome.wustl.edu 37 12 22487107 22487107 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 22487107 22487107 C T SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known silent c.60 p.A20 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 111 0 0 59 46 43.8095 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 31 0 0 14 11 44 CACNA1C 0 genome.wustl.edu 37 12 2717706 2717706 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 2717706 2717706 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.3386 p.T1129M 0.995 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 20 0 0 13 4 23.5294 C12orf71 0 genome.wustl.edu 37 12 27235392 27235392 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 27235392 27235392 C T SNP C12orf71 ENST00000429849 human ensembl 74_37 -1 known missense c.25 p.D9N 0.000 NULL NULL - no_errors C12orf71 HGNC ENSG00000214700 31 0 0 16 11 40.7407 FAR2 0 genome.wustl.edu 37 12 29486714 29486714 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 29486714 29486714 C T SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.1535 p.T512M 0.991 NULL pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 72 0 0 45 33 42.3077 OVCH1 0 genome.wustl.edu 37 12 29639191 29639191 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 29639191 29639191 C A SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.983 p.R328I 0.001 NULL pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 80 0 0 37 37 50 TMTC1 0 genome.wustl.edu 37 12 29659730 29659730 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 29659730 29659730 C T SNP TMTC1 ENST00000319685 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors TMTC1 HGNC ENSG00000133687 58 0 0 38 31 44.9275 DDX11 0 genome.wustl.edu 37 12 31242911 31242911 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 31242911 31242911 C T SNP DDX11 ENST00000542129 human ensembl 74_37 +1 known missense c.884 p.A295V 0.995 smart_Helicase-like_DEXD_c2 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 - no_errors DDX11 HGNC ENSG00000013573 11 0 0 8 5 38.4615 ENSG00000245482 0 genome.wustl.edu 37 12 34176779 34176779 + RNA SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 34176779 34176779 T C SNP ENSG00000245482 ENST00000501954 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-847H18.2 Clone_based_vega_gene ENSG00000245482 18 0 0 14 7 33.3333 KIF21A 0 genome.wustl.edu 37 12 39752103 39752103 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 39752103 39752103 G A SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known silent c.1092 p.Y364 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 188 0 0 112 65 36.7232 LRRK2 0 genome.wustl.edu 37 12 40704300 40704300 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 40704300 40704300 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.4385 p.R1462H 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 145 0 0 154 17 9.94152 LRRK2 0 genome.wustl.edu 37 12 40740562 40740562 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 40740562 40740562 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.6117 p.R2039 0.685 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 28 0 0 30 9 23.0769 CNTN1 0 genome.wustl.edu 37 12 41374776 41374776 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 41374776 41374776 T C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.1870 p.W624R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 132 0 0 66 59 47.2 CCNT1 0 genome.wustl.edu 37 12 49110342 49110342 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 49110342 49110342 C T SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known silent c.117 p.Q39 1.000 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 138 0 0 95 58 37.9085 ADCY6 0 genome.wustl.edu 37 12 49177014 49177014 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 49177014 49177014 G A SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known silent c.204 p.D68 0.759 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 70 0 0 33 15 31.25 CACNB3 0 genome.wustl.edu 37 12 49221650 49221650 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 49221650 49221650 C T SNP CACNB3 ENST00000301050 human ensembl 74_37 +1 known missense c.1423 p.R475C 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 46 0 0 34 13 27.6596 LOC101927267 0 genome.wustl.edu 37 12 49690915 49690915 + RNA SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 49690915 49690915 T C SNP LOC101927267 ENST00000553259 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-161H23.9 Clone_based_vega_gene ENSG00000258334 83 0 0 46 30 39.4737 KCNH3 0 genome.wustl.edu 37 12 49938099 49938099 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 49938099 49938099 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1123 p.A375T 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 33 0 0 11 5 31.25 ACVR1B 0 genome.wustl.edu 37 12 52374774 52374774 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 52374774 52374774 G A SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known missense c.602 p.R201H 1.000 pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 53 0 0 40 19 32.2034 KRT86 0 genome.wustl.edu 37 12 52695798 52695798 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 52695798 52695798 G A SNP KRT86 ENST00000293525 human ensembl 74_37 +1 known missense c.98 p.R33H 0.989 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 HGNC ENSG00000170442 60 0 0 24 27 52.9412 KRT6B 0 genome.wustl.edu 37 12 52845339 52845339 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 52845339 52845339 G A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known missense c.524 p.A175V 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 145 0 0 115 22 16.0584 KRT6A 0 genome.wustl.edu 37 12 52886449 52886449 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 52886449 52886449 G A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.524 p.A175V 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 174 0 0 158 9 5.38922 KRT73 0 genome.wustl.edu 37 12 53002213 53002213 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 53002213 53002213 C T SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.1390 p.G464R 0.005 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 32 0 0 25 13 34.2105 KRT4 0 genome.wustl.edu 37 12 53207430 53207430 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 53207430 53207430 C T SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known missense c.635 p.R212H 0.965 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 166 0 0 96 83 46.3687 MAP3K12 0 genome.wustl.edu 37 12 53875972 53875972 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 53875972 53875972 C T SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known missense c.2234 p.R745H 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 134 0 0 140 13 8.49673 HOXC13 0 genome.wustl.edu 37 12 54338978 54338978 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 54338978 54338978 C T SNP HOXC13 ENST00000243056 human ensembl 74_37 +1 known missense c.931 p.R311W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXC13 HGNC ENSG00000123364 95 0 0 51 27 34.6154 HOXC8 0 genome.wustl.edu 37 12 54403386 54403386 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 54403386 54403386 G A SNP HOXC8 ENST00000040584 human ensembl 74_37 +1 known silent c.318 p.A106 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 207 1 0.480769 121 82 40.3941 IKZF4 0 genome.wustl.edu 37 12 56415292 56415292 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 56415292 56415292 C T SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known silent c.15 p.P5 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 11 0 0 8 4 33.3333 ERBB3 0 genome.wustl.edu 37 12 56481671 56481671 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 56481671 56481671 T C SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.706 p.S236P 0.987 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 185 0 0 105 55 34.375 ERBB3 0 genome.wustl.edu 37 12 56487604 56487604 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 56487604 56487604 G T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.1537 p.G513C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 133 0 0 81 38 31.9328 PAN2 0 genome.wustl.edu 37 12 56720737 56720737 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 56720737 56720737 C T SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.926 p.C309Y 1.000 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 71 0 0 44 21 32.3077 RBMS2 0 genome.wustl.edu 37 12 56962790 56962790 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 56962790 56962790 C T SNP RBMS2 ENST00000262031 human ensembl 74_37 +1 known silent c.265 p.L89 0.972 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMS2 HGNC ENSG00000076067 30 0 0 30 14 31.8182 NACA 0 genome.wustl.edu 37 12 57113059 57113059 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 57113059 57113059 T C SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.2255 p.D752G 0.304 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 13 0 0 9 3 25 RDH16 0 genome.wustl.edu 37 12 57351279 57351279 + RNA SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 57351279 57351279 G T SNP RDH16 ENST00000360752 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RDH16 HGNC ENSG00000139547 68 0 0 40 23 36.5079 NAB2 0 genome.wustl.edu 37 12 57485188 57485188 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 57485188 57485188 G A SNP NAB2 ENST00000300131 human ensembl 74_37 +1 known missense c.364 p.V122I 0.625 NULL pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 166 0 0 74 37 33.3333 STAT6 0 genome.wustl.edu 37 12 57499332 57499332 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 57499332 57499332 G A SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known missense c.731 p.A244V 0.639 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 35 0 0 20 12 37.5 MBD6 0 genome.wustl.edu 37 12 57919830 57919830 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 57919830 57919830 G A SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.1079 p.R360H 0.999 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 72 0 0 35 36 50.7042 MBD6 0 genome.wustl.edu 37 12 57922092 57922092 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 57922092 57922092 C T SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.2569 p.R857W 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 25 0 0 20 12 37.5 AVIL 0 genome.wustl.edu 37 12 58203443 58203443 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 58203443 58203443 G T SNP AVIL ENST00000257861 human ensembl 74_37 -1 known silent c.876 p.I292 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 78 0 0 48 29 37.6623 AVIL 0 genome.wustl.edu 37 12 58207051 58207051 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 58207051 58207051 A G SNP AVIL ENST00000257861 human ensembl 74_37 -1 known silent c.297 p.H99 0.943 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 173 0 0 76 52 40.625 ANO2 0 genome.wustl.edu 37 12 5939605 5939605 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 5939605 5939605 C T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.827 p.R276H 1.000 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 20 0 0 9 8 47.0588 VWF 0 genome.wustl.edu 37 12 6103094 6103094 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 6103094 6103094 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.6532 p.A2178T 0.045 pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich 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 65 0 0 47 30 38.961 MSRB3 0 genome.wustl.edu 37 12 65762800 65762800 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 65762800 65762800 G A SNP MSRB3 ENST00000355192 human ensembl 74_37 +1 known missense c.307 p.G103S 1.000 pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB3 HGNC ENSG00000174099 36 0 0 24 16 40 B4GALNT3 0 genome.wustl.edu 37 12 662743 662743 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 662743 662743 G A SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known missense c.1654 p.A552T 0.000 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 69 0 0 40 18 31.0345 LPAR5 0 genome.wustl.edu 37 12 6729439 6729439 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 6729439 6729439 G A SNP LPAR5 ENST00000329858 human ensembl 74_37 -1 known missense c.976 p.R326W 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR5 HGNC ENSG00000184574 22 0 0 6 8 57.1429 COPS7A 0 genome.wustl.edu 37 12 6840179 6840179 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 6840179 6840179 G A SNP COPS7A ENST00000229251 human ensembl 74_37 +1 known missense c.802 p.A268T 0.995 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS7A HGNC ENSG00000111652 51 0 0 30 14 31.8182 NUP107 0 genome.wustl.edu 37 12 69113183 69113183 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 69113183 69113183 A G SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known silent c.1146 p.K382 0.893 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 51 0 0 44 19 30.1587 ZFC3H1 0 genome.wustl.edu 37 12 72013181 72013181 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 72013181 72013181 G A SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known silent c.5058 p.G1686 0.543 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 36 0 0 24 20 45.4545 TPH2 0 genome.wustl.edu 37 12 72425063 72425063 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 72425063 72425063 T C SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.1190 p.V397A 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 115 0 0 60 53 46.9027 TRHDE 0 genome.wustl.edu 37 12 73014965 73014965 + Silent SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 73014965 73014965 T A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.2412 p.V804 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 58 0 0 54 16 22.8571 CD163L1 0 genome.wustl.edu 37 12 7531681 7531681 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 7531681 7531681 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2264 p.S755L 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 78 0 0 63 34 35.0515 SLC2A3 0 genome.wustl.edu 37 12 8083109 8083109 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 8083109 8083109 T G SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known missense c.640 p.I214L 1.000 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 125 0 0 58 51 46.789 PPFIA2 0 genome.wustl.edu 37 12 81661753 81661753 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 81661753 81661753 C T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3424 p.D1142N 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 13 0 0 4 4 50 FAM86FP 0 genome.wustl.edu 37 12 8391292 8391292 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 8391292 8391292 G A SNP FAM86FP ENST00000427893 human ensembl 74_37 -1 known rna NULL NULL 0.197 - - - no_errors FAM86FP HGNC ENSG00000164845 46 0 0 53 13 19.697 LOC101927905 0 genome.wustl.edu 37 12 8391338 8391338 + RNA SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 8391338 8391338 T C SNP LOC101927905 ENST00000304751 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors RP11-266K4.9 Clone_based_vega_gene ENSG00000215241 43 0 0 51 17 25 ALX1 0 genome.wustl.edu 37 12 85674140 85674140 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 85674140 85674140 C T SNP ALX1 ENST00000316824 human ensembl 74_37 +1 known missense c.101 p.T34M 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 106 0 0 61 34 35.7895 PHC1 0 genome.wustl.edu 37 12 9089850 9089850 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 9089850 9089850 C T SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known silent c.2556 p.R852 0.006 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 17 0 0 17 7 29.1667 LUM 0 genome.wustl.edu 37 12 91497971 91497971 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 91497971 91497971 G A SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.988 p.R330C 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 67 0 0 55 24 30.3797 EEA1 0 genome.wustl.edu 37 12 93206754 93206754 + Splice_Site SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 93206754 93206754 A G SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known splice_site c.2043+2 e16+2 1.000 - - - no_errors EEA1 HGNC ENSG00000102189 73 0 0 46 26 36.1111 PZP 0 genome.wustl.edu 37 12 9345170 9345170 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 9345170 9345170 C T SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.1420 p.A474T 0.001 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 126 0 0 82 9 9.89011 ELK3 0 genome.wustl.edu 37 12 96641143 96641143 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 96641143 96641143 C T SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known silent c.633 p.S211 0.918 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 128 0 0 63 47 42.7273 CLEC2D 0 genome.wustl.edu 37 12 9847461 9847461 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 9847461 9847461 A G SNP CLEC2D ENST00000290855 human ensembl 74_37 +1 known missense c.567 p.I189M 0.000 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2D HGNC ENSG00000069493 44 0 0 21 11 34.375 FAM155A 0 genome.wustl.edu 37 13 108518676 108518676 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 108518676 108518676 T C SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.269 p.Q90R 0.989 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 34 0 0 15 19 55.8824 LIG4 0 genome.wustl.edu 37 13 108861668 108861668 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 108861668 108861668 G T SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.1949 p.T650N 0.867 superfamily_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 51 0 0 40 19 32.2034 COL4A1 0 genome.wustl.edu 37 13 110828808 110828808 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 110828808 110828808 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.3021 p.P1007 0.997 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 98 0 0 67 8 10.6667 CARS2 0 genome.wustl.edu 37 13 111358282 111358282 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 111358282 111358282 C A SNP CARS2 ENST00000257347 human ensembl 74_37 -1 known missense c.159 p.Q53H 0.993 tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 8 0 0 3 3 50 TEX29 0 genome.wustl.edu 37 13 111980580 111980580 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 111980580 111980580 C T SNP TEX29 ENST00000283547 human ensembl 74_37 +1 known nonsense c.109 p.R37* 0.516 NULL NULL - no_errors TEX29 HGNC ENSG00000153495 89 0 0 36 26 41.9355 SPACA7 0 genome.wustl.edu 37 13 113052428 113052428 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 113052428 113052428 G T SNP SPACA7 ENST00000283550 human ensembl 74_37 +1 known missense c.217 p.A73S 0.000 NULL NULL - no_errors SPACA7 HGNC ENSG00000153498 103 0 0 86 6 6.52174 GAS6 0 genome.wustl.edu 37 13 114535847 114535847 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 114535847 114535847 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.842 p.A281V 0.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 11 0 0 4 5 55.5556 MPHOSPH8 0 genome.wustl.edu 37 13 20235838 20235838 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 20235838 20235838 G A SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known missense c.1792 p.D598N 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 184 0 0 113 65 36.5169 SACS 0 genome.wustl.edu 37 13 23905080 23905080 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 23905080 23905080 G T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.12935 p.S4312Y 0.769 superfamily_DnaJ_domain,pfscan_DnaJ_domain pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 160 0 0 105 58 35.5828 C1QTNF9 0 genome.wustl.edu 37 13 24892996 24892996 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 24892996 24892996 G A SNP C1QTNF9 ENST00000332018 human ensembl 74_37 +1 known silent c.207 p.T69 0.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC ENSG00000240654 111 0 0 50 24 32.4324 PARP4 0 genome.wustl.edu 37 13 25030482 25030482 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 25030482 25030482 G A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.2559 p.S853 0.558 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 68 0 0 49 18 26.8657 AMER2 0 genome.wustl.edu 37 13 25745243 25745243 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 25745243 25745243 C T SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.515 p.R172H 0.010 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 49 0 0 38 5 11.6279 ATP8A2 0 genome.wustl.edu 37 13 26117431 26117431 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 26117431 26117431 T C SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.782 p.L261P 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8A2 HGNC ENSG00000132932 104 0 0 57 31 35.2273 ATP8A2 0 genome.wustl.edu 37 13 26153014 26153014 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 26153014 26153014 A C SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.1844 p.H615P 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8A2 HGNC ENSG00000132932 48 0 0 37 16 30.1887 SHISA2 0 genome.wustl.edu 37 13 26620777 26620777 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 26620777 26620777 G A SNP SHISA2 ENST00000319420 human ensembl 74_37 -1 known silent c.762 p.H254 0.108 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 78 0 0 34 25 42.3729 GPR12 0 genome.wustl.edu 37 13 27332975 27332975 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 27332975 27332975 C T SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known silent c.990 p.S330 0.008 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 42 0 0 31 17 35.4167 USP12 0 genome.wustl.edu 37 13 27645266 27645266 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 27645266 27645266 T C SNP USP12 ENST00000282344 human ensembl 74_37 -1 known missense c.953 p.Y318C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP12 HGNC ENSG00000152484 48 0 0 31 22 41.5094 SLC46A3 0 genome.wustl.edu 37 13 29292078 29292078 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 29292078 29292078 T C SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known missense c.58 p.T20A 0.147 pfam_MFS pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 97 0 0 46 30 39.4737 SPG20 0 genome.wustl.edu 37 13 36888472 36888472 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 36888472 36888472 G A SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.1375 p.R459W 1.000 pfam_Senescence/spartin pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 125 0 0 78 35 30.9735 SMAD9 0 genome.wustl.edu 37 13 37427804 37427804 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 37427804 37427804 A C SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known missense c.1012 p.L338V 0.999 pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,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 SMAD9 HGNC ENSG00000120693 55 0 0 34 13 27.6596 POSTN 0 genome.wustl.edu 37 13 38145470 38145470 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 38145470 38145470 G A SNP POSTN ENST00000497145 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POSTN HGNC ENSG00000133110 58 0 0 35 17 32.6923 POSTN 0 genome.wustl.edu 37 13 38171373 38171373 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 38171373 38171373 A T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.166 p.Y56N 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 49 0 0 33 19 36.5385 PROSER1 0 genome.wustl.edu 37 13 39586971 39586971 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 39586971 39586971 G A SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known silent c.2418 p.F806 1.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 147 0 0 108 9 7.69231 MTRF1 0 genome.wustl.edu 37 13 41834765 41834765 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 41834765 41834765 C T SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known silent c.318 p.L106 0.032 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 207 0 0 151 78 34.0611 TNFSF11 0 genome.wustl.edu 37 13 43174915 43174915 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 43174915 43174915 C T SNP TNFSF11 ENST00000239849 human ensembl 74_37 +1 known missense c.415 p.H139Y 0.005 pirsf_TNF_ligand_10/11 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF11 HGNC ENSG00000120659 54 0 0 36 20 35.7143 NUFIP1 0 genome.wustl.edu 37 13 45563529 45563529 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 45563529 45563529 G A SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known missense c.43 p.H15Y 0.012 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 18 0 0 11 4 26.6667 SIAH3 0 genome.wustl.edu 37 13 46358084 46358084 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 46358084 46358084 G A SNP SIAH3 ENST00000400405 human ensembl 74_37 -1 known missense c.244 p.R82C 0.007 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like - no_errors SIAH3 HGNC ENSG00000215475 48 0 0 24 21 46.6667 KIAA0226L 0 genome.wustl.edu 37 13 46917563 46917563 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 46917563 46917563 G A SNP KIAA0226L ENST00000378787 human ensembl 74_37 -1 known nonsense c.1792 p.R598* 0.174 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 57 0 0 32 16 33.3333 RCBTB2 0 genome.wustl.edu 37 13 49085916 49085916 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 49085916 49085916 C T SNP RCBTB2 ENST00000430805 human ensembl 74_37 -1 known missense c.788 p.R263H 0.980 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 46 0 0 30 18 37.5 FNDC3A 0 genome.wustl.edu 37 13 49781277 49781277 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 49781277 49781277 C T SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.3343 p.R1115C 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 83 0 0 62 32 34.0426 KPNA3 0 genome.wustl.edu 37 13 50296165 50296165 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 50296165 50296165 G A SNP KPNA3 ENST00000261667 human ensembl 74_37 -1 known missense c.652 p.R218W 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 86 0 0 52 27 34.1772 CCDC70 0 genome.wustl.edu 37 13 52439720 52439720 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 52439720 52439720 T C SNP CCDC70 ENST00000242819 human ensembl 74_37 +1 known missense c.206 p.M69T 0.000 NULL NULL - no_errors CCDC70 HGNC ENSG00000123171 101 0 0 53 30 36.1446 ATP7B 0 genome.wustl.edu 37 13 52513215 52513215 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 52513215 52513215 C T SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.3671 p.R1224Q 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 107 1 0.925926 53 31 36.9048 MRPS31P5 0 genome.wustl.edu 37 13 52742420 52742420 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 52742420 52742420 C T SNP MRPS31P5 ENST00000416599 human ensembl 74_37 -1 known rna NULL NULL 0.983 - - - no_errors MRPS31P5 HGNC ENSG00000243406 44 0 0 33 28 45.9016 PCDH8 0 genome.wustl.edu 37 13 53421516 53421516 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 53421516 53421516 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.1056 p.P352 0.086 smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 15 0 0 5 13 72.2222 PCDH17 0 genome.wustl.edu 37 13 58207236 58207236 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 58207236 58207236 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.556 p.R186C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 31 0 0 15 9 37.5 PCDH17 0 genome.wustl.edu 37 13 58298910 58298910 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 58298910 58298910 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2962 p.E988K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 62 0 0 29 27 48.2143 SLITRK1 0 genome.wustl.edu 37 13 84454612 84454612 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 84454612 84454612 C T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1031 p.G344D 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 110 0 0 56 28 33.3333 SLITRK5 0 genome.wustl.edu 37 13 88330138 88330138 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 88330138 88330138 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2495 p.A832V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 18 0 0 20 9 31.0345 GPC5 0 genome.wustl.edu 37 13 92345484 92345484 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 92345484 92345484 T C SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known silent c.369 p.S123 0.992 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 69 0 0 37 23 38.3333 DOCK9 0 genome.wustl.edu 37 13 99520227 99520227 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 99520227 99520227 C T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known silent c.3132 p.K1044 0.944 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 23 0 0 12 17 58.6207 DEGS2 0 genome.wustl.edu 37 14 100615484 100615484 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 100615484 100615484 A C SNP DEGS2 ENST00000305631 human ensembl 74_37 -1 known missense c.646 p.S216A 0.909 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC ENSG00000168350 106 0 0 47 30 38.961 WDR25 0 genome.wustl.edu 37 14 100992378 100992378 + Splice_Site SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 100992378 100992378 G A SNP WDR25 ENST00000335290 human ensembl 74_37 +1 known splice_site c.1272+1 e4+1 0.999 - - - no_errors WDR25 HGNC ENSG00000176473 35 0 0 18 23 56.0976 RTL1 0 genome.wustl.edu 37 14 101347457 101347457 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 101347457 101347457 G A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known silent c.3669 p.H1223 0.991 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 9 0 0 5 5 50 DYNC1H1 0 genome.wustl.edu 37 14 102476662 102476662 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 102476662 102476662 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.6271 p.R2091W 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 81 0 0 43 27 38.5714 EXOC3L4 0 genome.wustl.edu 37 14 103566847 103566847 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 103566847 103566847 C T SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known silent c.291 p.T97 0.000 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 41 0 0 15 14 48.2759 EXOC3L4 0 genome.wustl.edu 37 14 103574001 103574001 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 103574001 103574001 C T SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known missense c.1735 p.R579C 0.983 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 8 0 0 1 4 80 EIF5 0 genome.wustl.edu 37 14 103803484 103803484 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 103803484 103803484 A T SNP EIF5 ENST00000216554 human ensembl 74_37 +1 known missense c.359 p.N120I 1.000 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 63 0 0 91 8 8.08081 MARK3 0 genome.wustl.edu 37 14 103934416 103934416 + Splice_Site SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 103934416 103934416 A G SNP MARK3 ENST00000216288 human ensembl 74_37 +1 known splice_site c.1111-2 e12-2 1.000 - - - no_errors MARK3 HGNC ENSG00000075413 78 0 0 49 30 37.9747 C14orf180 0 genome.wustl.edu 37 14 105054178 105054178 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 105054178 105054178 C T SNP C14orf180 ENST00000410013 human ensembl 74_37 +1 known silent c.204 p.R68 0.002 NULL NULL - no_errors C14orf180 HGNC ENSG00000184601 25 0 0 13 6 31.5789 CEP170B 0 genome.wustl.edu 37 14 105352923 105352923 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 105352923 105352923 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.2350 p.R784W 0.014 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 22 0 0 16 4 20 CDCA4 0 genome.wustl.edu 37 14 105478046 105478046 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 105478046 105478046 G A SNP CDCA4 ENST00000336219 human ensembl 74_37 -1 known missense c.221 p.T74M 1.000 pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 58 0 0 39 27 40.9091 GPR132 0 genome.wustl.edu 37 14 105518286 105518286 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 105518286 105518286 G A SNP GPR132 ENST00000329797 human ensembl 74_37 -1 known missense c.188 p.T63I 0.972 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR132 HGNC ENSG00000183484 83 0 0 44 28 38.8889 JAG2 0 genome.wustl.edu 37 14 105612833 105612833 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 105612833 105612833 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known silent c.2598 p.I866 0.008 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 79 0 0 30 28 48.2759 BTBD6 0 genome.wustl.edu 37 14 105716436 105716436 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 105716436 105716436 C T SNP BTBD6 ENST00000392554 human ensembl 74_37 +1 known silent c.885 p.N295 0.395 smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD6 HGNC ENSG00000184887 133 0 0 68 30 30.6122 OR4K1 0 genome.wustl.edu 37 14 20404217 20404217 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 20404217 20404217 A G SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known missense c.392 p.H131R 0.084 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 125 0 0 114 35 23.4899 CHD8 0 genome.wustl.edu 37 14 21896280 21896280 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 21896280 21896280 C T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.1349 p.R450H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 180 0 0 116 47 28.8344 TOX4 0 genome.wustl.edu 37 14 21961062 21961062 + Silent SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 21961062 21961062 T A SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.1287 p.A429 0.939 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 178 1 0.558659 115 84 42.2111 OR10G3 0 genome.wustl.edu 37 14 22038482 22038482 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 22038482 22038482 G A SNP OR10G3 ENST00000303532 human ensembl 74_37 -1 known missense c.394 p.R132C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G3 HGNC ENSG00000169208 48 0 0 31 15 32.6087 DHRS4-AS1 0 genome.wustl.edu 37 14 24422889 24422889 + RNA SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 24422889 24422889 G C SNP DHRS4-AS1 ENST00000553454 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors DHRS4-AS1 HGNC ENSG00000215256 17 0 0 5 15 75 FOXG1 0 genome.wustl.edu 37 14 29237391 29237391 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 29237391 29237391 C T SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known silent c.906 p.R302 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 99 0 0 50 40 44.4444 PRKD1 0 genome.wustl.edu 37 14 30107951 30107951 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 30107951 30107951 A G SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.856 p.Y286H 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 42 0 0 27 16 37.2093 NPAS3 0 genome.wustl.edu 37 14 34269285 34269285 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 34269285 34269285 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.1772 p.A591V 0.995 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 15 0 0 8 5 38.4615 SSTR1 0 genome.wustl.edu 37 14 38679518 38679518 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 38679518 38679518 G A SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known silent c.924 p.S308 0.533 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 96 0 0 60 55 47.8261 CTAGE5 0 genome.wustl.edu 37 14 39748655 39748655 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 39748655 39748655 C T SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known nonsense c.220 p.R74* 0.974 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 50 0 0 36 14 28 CTAGE5 0 genome.wustl.edu 37 14 39790150 39790150 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 39790150 39790150 C A SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known missense c.1577 p.P526H 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 84 0 0 76 39 33.913 FBXO33 0 genome.wustl.edu 37 14 39871611 39871611 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 39871611 39871611 A T SNP FBXO33 ENST00000298097 human ensembl 74_37 -1 known missense c.704 p.I235N 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO33 HGNC ENSG00000165355 47 0 0 41 18 30.5085 KLHL28 0 genome.wustl.edu 37 14 45414389 45414389 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 45414389 45414389 C T SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.743 p.R248H 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 70 0 0 47 24 33.8028 FAM179B 0 genome.wustl.edu 37 14 45431631 45431631 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 45431631 45431631 G A SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.7 p.A3T 1.000 NULL superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 52 0 0 31 21 40.3846 FAM179B 0 genome.wustl.edu 37 14 45497410 45497410 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 45497410 45497410 A G SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.3536 p.N1179S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 41 0 0 51 7 12.069 FANCM 0 genome.wustl.edu 37 14 45605395 45605395 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 45605395 45605395 A G SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.161 p.D54G 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 92 0 0 40 36 47.3684 MIS18BP1 0 genome.wustl.edu 37 14 45693275 45693275 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 45693275 45693275 C T SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.2515 p.V839I 0.212 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 44 0 0 38 14 26.9231 MIS18BP1 0 genome.wustl.edu 37 14 45711515 45711515 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 45711515 45711515 T C SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.865 p.S289G 0.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 106 0 0 96 6 5.88235 FRMD6 0 genome.wustl.edu 37 14 52178272 52178272 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 52178272 52178272 G A SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known silent c.738 p.S246 0.558 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 90 0 0 47 26 35.6164 PELI2 0 genome.wustl.edu 37 14 56645119 56645119 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 56645119 56645119 G A SNP PELI2 ENST00000267460 human ensembl 74_37 +1 known silent c.144 p.R48 0.572 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 75 0 0 55 41 42.7083 DAAM1 0 genome.wustl.edu 37 14 59789729 59789729 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 59789729 59789729 C T SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.560 p.A187V 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 61 0 0 34 21 38.1818 GPR135 0 genome.wustl.edu 37 14 59930994 59930994 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 59930994 59930994 G A SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known silent c.951 p.Y317 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 45 0 0 21 16 43.2432 MTHFD1 0 genome.wustl.edu 37 14 64855117 64855117 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 64855117 64855117 C T SNP MTHFD1 ENST00000545908 human ensembl 74_37 +1 novel missense c.140 p.S47F 0.000 NULL pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 89 0 0 47 21 30.8824 MAP3K9 0 genome.wustl.edu 37 14 71199761 71199761 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 71199761 71199761 G A SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known silent c.2367 p.C789 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 80 0 0 41 24 36.9231 PCNX 0 genome.wustl.edu 37 14 71444403 71444403 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 71444403 71444403 G T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.1349 p.S450I 0.994 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 50 0 0 42 5 10.6383 C14orf169 0 genome.wustl.edu 37 14 73958888 73958888 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 73958888 73958888 C T SNP C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors C14orf169 HGNC ENSG00000255242 163 0 0 99 64 39.2638 HEATR4 0 genome.wustl.edu 37 14 73989186 73989186 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 73989186 73989186 C T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.671 p.R224Q 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 47 0 0 34 18 34.6154 LTBP2 0 genome.wustl.edu 37 14 74995223 74995223 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 74995223 74995223 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.2331 p.T777 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 74 0 0 37 26 41.2698 IRF2BPL 0 genome.wustl.edu 37 14 77492225 77492225 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 77492225 77492225 C T SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known silent c.1911 p.A637 0.992 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 35 0 0 18 11 37.931 ALKBH1 0 genome.wustl.edu 37 14 78174328 78174328 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 78174328 78174328 G A SNP ALKBH1 ENST00000216489 human ensembl 74_37 -1 known missense c.20 p.A7V 0.005 NULL tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 68 0 0 36 29 44.6154 NRXN3 0 genome.wustl.edu 37 14 80328229 80328229 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 80328229 80328229 G A SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known silent c.3108 p.T1036 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 21 0 0 22 15 40.5405 TSHR 0 genome.wustl.edu 37 14 81610526 81610526 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 81610526 81610526 G A SNP TSHR ENST00000298171 human ensembl 74_37 +1 known silent c.2124 p.G708 0.204 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 132 0 0 72 47 39.4958 FOXN3 0 genome.wustl.edu 37 14 89878419 89878419 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 89878419 89878419 G A SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known silent c.402 p.R134 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 124 0 0 70 38 35.1852 TTC7B 0 genome.wustl.edu 37 14 91142998 91142998 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 91142998 91142998 G A SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.1021 p.R341W 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 79 0 0 49 27 35.5263 CCDC88C 0 genome.wustl.edu 37 14 91779774 91779774 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 91779774 91779774 G A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.2386 p.R796C 0.982 superfamily_Prefoldin pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 29 0 0 21 5 19.2308 FBLN5 0 genome.wustl.edu 37 14 92347755 92347755 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 92347755 92347755 G A SNP FBLN5 ENST00000342058 human ensembl 74_37 -1 known silent c.870 p.N290 0.995 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC ENSG00000140092 78 0 0 52 26 33.3333 FAM181A 0 genome.wustl.edu 37 14 94394791 94394791 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 94394791 94394791 C T SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known missense c.346 p.R116W 1.000 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 47 0 0 21 19 47.5 LRRK1 0 genome.wustl.edu 37 15 101586241 101586241 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 101586241 101586241 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.3019 p.R1007W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 122 0 0 84 41 32.8 LRRK1 0 genome.wustl.edu 37 15 101593491 101593491 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 101593491 101593491 A C SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.3920 p.E1307A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 62 0 0 31 20 39.2157 DNM1P47 0 genome.wustl.edu 37 15 102294430 102294430 + RNA SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 102294430 102294430 A T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 13 0 0 9 7 43.75 DNM1P47 0 genome.wustl.edu 37 15 102294443 102294443 + RNA SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 102294443 102294443 A G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 12 0 0 9 7 43.75 HERC2P3 0 genome.wustl.edu 37 15 20644812 20644812 + RNA SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 20644812 20644812 A G SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 45 0 0 26 6 18.75 OR4M2 0 genome.wustl.edu 37 15 22369050 22369050 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 22369050 22369050 C T SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative nonsense c.475 p.Q159* 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 357 0 0 289 57 16.474 LOC101927079 0 genome.wustl.edu 37 15 22383431 22383431 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 22383431 22383431 G A SNP LOC101927079 ENST00000558312 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 45 0 0 33 5 13.1579 NIPA1 0 genome.wustl.edu 37 15 23049010 23049010 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 23049010 23049010 G A SNP NIPA1 ENST00000337435 human ensembl 74_37 -1 known missense c.809 p.T270M 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPA1 HGNC ENSG00000170113 35 0 0 24 15 38.4615 ATP10A 0 genome.wustl.edu 37 15 25925385 25925385 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 25925385 25925385 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3749 p.A1250V 0.533 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 99 0 0 72 34 32.0755 ATP10A 0 genome.wustl.edu 37 15 25958891 25958891 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 25958891 25958891 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.2274 p.T758 0.001 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 ATP10A HGNC ENSG00000206190 63 0 0 40 19 32.2034 GABRA5 0 genome.wustl.edu 37 15 27188486 27188486 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 27188486 27188486 G A SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known silent c.1002 p.A334 0.079 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 16 0 0 5 3 37.5 HERC2 0 genome.wustl.edu 37 15 28437159 28437159 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 28437159 28437159 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.8399 p.R2800H 1.000 superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 173 0 0 106 65 38.0117 CHRNA7 0 genome.wustl.edu 37 15 32460419 32460419 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 32460419 32460419 C T SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known silent c.1356 p.G452 0.001 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 8 0 0 3 6 66.6667 RYR3 0 genome.wustl.edu 37 15 33858966 33858966 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 33858966 33858966 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.1234 p.R412W 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 97 0 0 55 24 30.3797 GOLGA8A 0 genome.wustl.edu 37 15 34673720 34673720 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 34673720 34673720 G A SNP GOLGA8A ENST00000432566 human ensembl 74_37 -1 known silent c.1794 p.V598 1.000 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 130 0 0 131 23 14.9351 MEIS2 0 genome.wustl.edu 37 15 37375970 37375970 + Splice_Site SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 37375970 37375970 A G SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known splice_site c.754+2 e7+2 1.000 - - - no_errors MEIS2 HGNC ENSG00000134138 81 0 0 44 22 33.3333 PLCB2 0 genome.wustl.edu 37 15 40590816 40590816 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 40590816 40590816 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known missense c.944 p.T315M 0.593 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 55 0 0 31 26 45.614 DISP2 0 genome.wustl.edu 37 15 40659533 40659533 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 40659533 40659533 C T SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.1220 p.A407V 0.673 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 303 0 0 175 78 30.83 DISP2 0 genome.wustl.edu 37 15 40661144 40661144 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 40661144 40661144 G A SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.2831 p.R944H 0.000 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 135 0 0 72 44 37.931 RPAP1 0 genome.wustl.edu 37 15 41812993 41812993 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 41812993 41812993 G A SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.3391 p.R1131W 0.825 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 48 0 0 36 27 42.8571 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42139703 42139703 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 42139703 42139703 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.2809 p.R937W 0.144 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 101 1 0.980392 63 40 38.835 TMEM87A 0 genome.wustl.edu 37 15 42519917 42519917 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 42519917 42519917 A G SNP TMEM87A ENST00000389834 human ensembl 74_37 -1 known missense c.1291 p.C431R 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 40 0 0 39 18 31.5789 ZNF106 0 genome.wustl.edu 37 15 42734448 42734448 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 42734448 42734448 C T SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.3517 p.G1173R 0.527 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 80 0 0 49 39 44.3182 ZNF106 0 genome.wustl.edu 37 15 42743379 42743379 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 42743379 42743379 G A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.1022 p.A341V 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 87 0 0 97 6 5.82524 UBR1 0 genome.wustl.edu 37 15 43237587 43237587 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 43237587 43237587 C T SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known silent c.5190 p.E1730 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 50 0 0 40 19 32.2034 CCNDBP1 0 genome.wustl.edu 37 15 43482524 43482524 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 43482524 43482524 C A SNP CCNDBP1 ENST00000300213 human ensembl 74_37 +1 known missense c.430 p.P144T 0.235 NULL NULL - no_errors CCNDBP1 HGNC ENSG00000166946 45 0 0 28 19 40.4255 TUBGCP4 0 genome.wustl.edu 37 15 43692300 43692300 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 43692300 43692300 C T SNP TUBGCP4 ENST00000260383 human ensembl 74_37 +1 known missense c.1480 p.H494Y 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP4 HGNC ENSG00000137822 45 0 0 27 15 35.7143 CATSPER2P1 0 genome.wustl.edu 37 15 44020984 44020984 + RNA SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 44020984 44020984 G C SNP CATSPER2P1 ENST00000446479 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 35 0 0 17 22 56.4103 DUOX2 0 genome.wustl.edu 37 15 45399615 45399615 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 45399615 45399615 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.1621 p.R541W 0.321 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 125 0 0 64 43 40.1869 DUOX2 0 genome.wustl.edu 37 15 45404879 45404879 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 45404879 45404879 G T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known silent c.198 p.A66 0.008 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 106 0 0 64 32 33.3333 BLOC1S6 0 genome.wustl.edu 37 15 45884368 45884368 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 45884368 45884368 G A SNP BLOC1S6 ENST00000220531 human ensembl 74_37 +1 known missense c.118 p.E40K 0.998 pirsf_BLOC-1_pallidin pirsf_BLOC-1_pallidin - no_errors BLOC1S6 HGNC ENSG00000104164 60 0 0 41 24 36.9231 CEP152 0 genome.wustl.edu 37 15 49048167 49048167 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 49048167 49048167 C T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.3278 p.C1093Y 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 141 0 0 77 42 35.2941 CYP19A1 0 genome.wustl.edu 37 15 51503148 51503148 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 51503148 51503148 G A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known nonsense c.1369 p.R457* 0.992 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 79 0 0 53 31 36.9048 MYO5C 0 genome.wustl.edu 37 15 52556467 52556467 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 52556467 52556467 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.967 p.V323I 0.935 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 45 0 0 30 13 30.2326 UNC13C 0 genome.wustl.edu 37 15 54786877 54786877 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 54786877 54786877 A C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.5005 p.N1669H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 97 0 0 68 38 35.8491 UNC13C 0 genome.wustl.edu 37 15 54916051 54916051 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 54916051 54916051 A G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.6258 p.E2086 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 37 0 0 30 17 36.1702 SLTM 0 genome.wustl.edu 37 15 59181694 59181694 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 59181694 59181694 T C SNP SLTM ENST00000380516 human ensembl 74_37 -1 known silent c.2139 p.Q713 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 76 0 0 36 28 43.75 TLN2 0 genome.wustl.edu 37 15 63000909 63000909 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 63000909 63000909 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.2381 p.R794Q 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 69 0 0 25 24 48.9796 USP3 0 genome.wustl.edu 37 15 63824852 63824852 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 63824852 63824852 G A SNP USP3 ENST00000380324 human ensembl 74_37 +1 known missense c.98 p.R33Q 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP3 HGNC ENSG00000140455 89 0 0 48 37 43.5294 SMAD3 0 genome.wustl.edu 37 15 67473668 67473668 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 67473668 67473668 G A SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.748 p.A250T 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,pfam_Interferon_reg_factor-3,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 SMAD3 HGNC ENSG00000166949 48 0 0 31 23 42.5926 SKOR1 0 genome.wustl.edu 37 15 68122574 68122574 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 68122574 68122574 C T SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.2453 p.T818M 0.994 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 60 0 0 30 22 42.3077 PKM 0 genome.wustl.edu 37 15 72511345 72511345 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 72511345 72511345 G A SNP PKM ENST00000319622 human ensembl 74_37 -1 known missense c.94 p.R32C 1.000 superfamily_Pyrv/PenolPyrv_Kinase-like_dom pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 61 0 0 41 30 42.2535 NEO1 0 genome.wustl.edu 37 15 73581529 73581529 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 73581529 73581529 G T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.3692 p.R1231L 0.999 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 41 0 0 20 16 44.4444 CD276 0 genome.wustl.edu 37 15 73994653 73994653 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 73994653 73994653 C T SNP CD276 ENST00000318443 human ensembl 74_37 +1 known missense c.137 p.A46V 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD276 HGNC ENSG00000103855 40 0 0 28 2 6.66667 LOXL1 0 genome.wustl.edu 37 15 74235272 74235272 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 74235272 74235272 C T SNP LOXL1 ENST00000261921 human ensembl 74_37 +1 known missense c.1180 p.R394C 1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOXL1 HGNC ENSG00000129038 189 0 0 150 10 6.25 GOLGA6A 0 genome.wustl.edu 37 15 74367334 74367334 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 74367334 74367334 G T SNP GOLGA6A ENST00000290438 human ensembl 74_37 -1 known missense c.856 p.P286T 0.011 NULL NULL - no_errors GOLGA6A HGNC ENSG00000159289 72 0 0 88 18 16.9811 ISLR 0 genome.wustl.edu 37 15 74468067 74468067 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 74468067 74468067 C T SNP ISLR ENST00000249842 human ensembl 74_37 +1 known missense c.868 p.R290C 0.004 pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 171 0 0 85 44 34.1085 CCDC33 0 genome.wustl.edu 37 15 74627335 74627335 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 74627335 74627335 G A SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.2756 p.R919H 0.997 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 106 0 0 66 29 30.5263 CLK3 0 genome.wustl.edu 37 15 74911553 74911553 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 74911553 74911553 C T SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known nonsense c.460 p.R154* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 141 0 0 85 64 42.953 CSK 0 genome.wustl.edu 37 15 75094779 75094779 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 75094779 75094779 C T SNP CSK ENST00000220003 human ensembl 74_37 +1 known silent c.1278 p.D426 0.021 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 152 0 0 70 36 33.9623 SIN3A 0 genome.wustl.edu 37 15 75664484 75664484 + Nonsense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 75664484 75664484 C A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known nonsense c.3658 p.E1220* 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 159 0 0 83 46 35.6589 SNX33 0 genome.wustl.edu 37 15 75949393 75949393 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 75949393 75949393 G A SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known missense c.1562 p.R521H 0.995 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 60 0 0 40 37 48.0519 CHRNB4 0 genome.wustl.edu 37 15 78921324 78921324 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 78921324 78921324 G A SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known silent c.1323 p.D441 0.045 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 46 0 0 26 25 49.0196 CTSH 0 genome.wustl.edu 37 15 79227367 79227367 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 79227367 79227367 C T SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.358 p.V120M 0.012 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 77 0 0 70 4 5.40541 KIAA1024 0 genome.wustl.edu 37 15 79760622 79760622 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 79760622 79760622 G A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.2647 p.E883K 0.989 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 36 0 0 15 10 40 FSD2 0 genome.wustl.edu 37 15 83451559 83451559 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 83451559 83451559 C A SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known silent c.954 p.V318 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 166 1 0.598802 131 49 27.2222 TM6SF1 0 genome.wustl.edu 37 15 83776556 83776556 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 83776556 83776556 G A SNP TM6SF1 ENST00000564988 human ensembl 74_37 +1 known rna NULL NULL 0.181 - - - no_errors TM6SF1 HGNC ENSG00000136404 17 0 0 11 3 21.4286 AKAP13 0 genome.wustl.edu 37 15 86205628 86205628 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 86205628 86205628 G A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known nonsense c.4755 p.W1585* 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 140 0 0 98 61 38.3648 AEN 0 genome.wustl.edu 37 15 89169555 89169555 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 89169555 89169555 C T SNP AEN ENST00000379231 human ensembl 74_37 +1 known missense c.115 p.R39W 0.983 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 29 0 0 12 6 33.3333 RLBP1 0 genome.wustl.edu 37 15 89754024 89754024 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 89754024 89754024 C T SNP RLBP1 ENST00000268125 human ensembl 74_37 -1 known missense c.701 p.R234Q 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran,pfscan_CRAL-TRIO_dom - no_errors RLBP1 HGNC ENSG00000140522 14 0 0 1 7 87.5 FANCI 0 genome.wustl.edu 37 15 89848426 89848426 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 89848426 89848426 C T SNP FANCI ENST00000310775 human ensembl 74_37 +1 known missense c.3139 p.R1047C 0.952 NULL NULL - no_errors FANCI HGNC ENSG00000140525 130 0 0 63 40 38.835 TICRR 0 genome.wustl.edu 37 15 90169247 90169247 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 90169247 90169247 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known silent c.5557 p.L1853 1.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 60 0 0 43 20 31.746 ANPEP 0 genome.wustl.edu 37 15 90349232 90349232 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 90349232 90349232 G A SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.583 p.R195C 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 106 0 0 74 36 32.7273 CRTC3 0 genome.wustl.edu 37 15 91185350 91185350 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 91185350 91185350 C T SNP CRTC3 ENST00000268184 human ensembl 74_37 +1 known missense c.1838 p.T613M 0.500 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 70 0 0 38 22 36.6667 BLM 0 genome.wustl.edu 37 15 91312684 91312684 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 91312684 91312684 G A SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.2423 p.R808H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 89 0 0 48 50 51.0204 PRC1 0 genome.wustl.edu 37 15 91528045 91528045 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 91528045 91528045 C T SNP PRC1 ENST00000394249 human ensembl 74_37 -1 known missense c.22 p.A8T 1.000 NULL pfam_MAP65_Ase1_PRC1 - no_errors PRC1 HGNC ENSG00000198901 99 0 0 62 37 37.3737 MCTP2 0 genome.wustl.edu 37 15 94901823 94901823 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 94901823 94901823 A G SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.1283 p.H428R 0.436 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 48 0 0 27 15 35.7143 IGF1R 0 genome.wustl.edu 37 15 99500322 99500322 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 99500322 99500322 A G SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.3755 p.N1252S 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 108 0 0 54 34 38.6364 TXNDC11 0 genome.wustl.edu 37 16 11829888 11829888 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 11829888 11829888 A G SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known silent c.456 p.S152 0.021 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 81 0 0 85 5 5.55556 RSL1D1 0 genome.wustl.edu 37 16 11933615 11933615 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 11933615 11933615 G A SNP RSL1D1 ENST00000571133 human ensembl 74_37 -1 known silent c.1083 p.S361 0.008 NULL pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 184 0 0 103 58 36.0248 CACNA1H 0 genome.wustl.edu 37 16 1270618 1270618 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 1270618 1270618 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.6686 p.R2229K 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 16 0 0 12 8 40 BAIAP3 0 genome.wustl.edu 37 16 1395258 1395258 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 1395258 1395258 G A SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.2054 p.R685H 0.794 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 133 0 0 48 43 47.2527 GNPTG 0 genome.wustl.edu 37 16 1412311 1412311 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 1412311 1412311 C T SNP GNPTG ENST00000204679 human ensembl 74_37 +1 known silent c.516 p.H172 0.671 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC ENSG00000090581 47 0 0 21 21 50 PKD1P6 0 genome.wustl.edu 37 16 15224285 15224285 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 15224285 15224285 C T SNP PKD1P6 ENST00000424133 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors PKD1P6 HGNC ENSG00000250251 14 0 0 8 9 52.9412 ENSG00000270580 0 genome.wustl.edu 37 16 15225424 15225424 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 15225424 15225424 C T SNP ENSG00000270580 ENST00000605794 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-1186N24.5 Clone_based_vega_gene ENSG00000270580 35 0 0 23 7 23.3333 NPIPA5 0 genome.wustl.edu 37 16 15457624 15457624 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 15457624 15457624 G T SNP NPIPA5 ENST00000360151 human ensembl 74_37 -1 novel silent c.945 p.P315 0.000 NULL NULL - no_errors NPIPA5 HGNC ENSG00000183793 75 0 0 42 33 44 IFT140 0 genome.wustl.edu 37 16 1561152 1561152 + Splice_Site SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 1561152 1561152 C A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known splice_site c.4183-1 e29-1 1.000 - - - no_errors IFT140 HGNC ENSG00000187535 17 0 0 11 3 21.4286 KIAA0430 0 genome.wustl.edu 37 16 15710928 15710928 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 15710928 15710928 C T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.3058 p.G1020S 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 97 0 0 51 36 41.3793 MYH11 0 genome.wustl.edu 37 16 15847322 15847322 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 15847322 15847322 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.1814 p.P605L 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,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 80 0 0 48 22 31.4286 ABCC1 0 genome.wustl.edu 37 16 16200615 16200615 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 16200615 16200615 C A SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.2786 p.S929Y 0.994 tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 75 0 0 46 32 41.0256 IGFALS 0 genome.wustl.edu 37 16 1841250 1841250 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 1841250 1841250 C T SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known missense c.1283 p.S428N 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 42 0 0 35 20 36.3636 RPL3L 0 genome.wustl.edu 37 16 1996656 1996656 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 1996656 1996656 G A SNP RPL3L ENST00000268661 human ensembl 74_37 -1 known silent c.921 p.Y307 0.432 pfam_Ribosomal_L3,superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3L HGNC ENSG00000140986 68 0 0 37 25 40.3226 GPR139 0 genome.wustl.edu 37 16 20084857 20084857 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 20084857 20084857 C T SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known missense c.82 p.V28M 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 28 0 0 8 7 46.6667 PDILT 0 genome.wustl.edu 37 16 20380898 20380898 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 20380898 20380898 G A SNP PDILT ENST00000302451 human ensembl 74_37 -1 known silent c.1032 p.D344 0.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 150 0 0 88 64 42.1053 CASKIN1 0 genome.wustl.edu 37 16 2228903 2228903 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 2228903 2228903 C T SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.4199 p.R1400H 0.331 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 10 0 0 3 4 57.1429 NPIPB5 0 genome.wustl.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 22545865 22545865 G C SNP NPIPB5 ENST00000424340 human ensembl 74_37 +1 known missense c.1561 p.A521P 0.003 NULL NULL - no_errors NPIPB5 HGNC ENSG00000243716 318 1 0.31348 319 48 13.079 HS3ST2 0 genome.wustl.edu 37 16 22826228 22826228 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 22826228 22826228 C T SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known silent c.297 p.S99 0.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 17 0 0 7 4 36.3636 ABCA3 0 genome.wustl.edu 37 16 2328359 2328359 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 2328359 2328359 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.4648 p.R1550W 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 81 0 0 50 34 40.4762 ABCA3 0 genome.wustl.edu 37 16 2349441 2349441 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 2349441 2349441 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known silent c.1704 p.N568 0.548 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 125 0 0 112 7 5.88235 ERN2 0 genome.wustl.edu 37 16 23713538 23713538 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 23713538 23713538 G A SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known silent c.1282 p.L428 0.014 NULL pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 150 0 0 83 42 33.6 ERN2 0 genome.wustl.edu 37 16 23716327 23716327 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 23716327 23716327 G A SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.875 p.P292L 1.000 NULL pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 86 0 0 45 27 37.5 PRKCB 0 genome.wustl.edu 37 16 24192209 24192209 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 24192209 24192209 C T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.1493 p.T498I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 100 0 0 61 38 38.3838 RBBP6 0 genome.wustl.edu 37 16 24582742 24582742 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 24582742 24582742 C T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.4355 p.T1452M 0.889 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 53 0 0 41 20 32.7869 GTF3C1 0 genome.wustl.edu 37 16 27561201 27561201 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 27561201 27561201 A G SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.11 p.L4P 0.995 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 44 0 0 16 11 40.7407 PRSS21 0 genome.wustl.edu 37 16 2871046 2871046 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 2871046 2871046 G A SNP PRSS21 ENST00000005995 human ensembl 74_37 +1 known missense c.641 p.R214H 0.003 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS21 HGNC ENSG00000007038 352 0 0 177 108 37.8947 CD19 0 genome.wustl.edu 37 16 28948671 28948671 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 28948671 28948671 C T SNP CD19 ENST00000538922 human ensembl 74_37 +1 known silent c.1278 p.N426 0.014 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD19 HGNC ENSG00000177455 50 0 0 33 23 41.0714 NFATC2IP 0 genome.wustl.edu 37 16 28967620 28967620 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 28967620 28967620 C T SNP NFATC2IP ENST00000320805 human ensembl 74_37 +1 known missense c.808 p.R270C 0.993 smart_Ubiquitin_dom pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors NFATC2IP HGNC ENSG00000176953 40 0 0 28 14 33.3333 SEZ6L2 0 genome.wustl.edu 37 16 29884960 29884960 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 29884960 29884960 C T SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.2195 p.R732H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 40 0 0 26 20 43.4783 TAOK2 0 genome.wustl.edu 37 16 29997691 29997691 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 29997691 29997691 C T SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.2098 p.R700C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 71 0 0 43 33 43.4211 ZNF689 0 genome.wustl.edu 37 16 30616334 30616334 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 30616334 30616334 G A SNP ZNF689 ENST00000287461 human ensembl 74_37 -1 known missense c.754 p.R252W 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 ZNF689 HGNC ENSG00000156853 96 0 0 52 30 36.5854 PHKG2 0 genome.wustl.edu 37 16 30767987 30767987 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 30767987 30767987 G A SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known missense c.878 p.R293H 0.997 superfamily_Kinase-like_dom,prints_Phosph_kin_gamma pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 101 0 0 49 32 39.5062 ZNF646 0 genome.wustl.edu 37 16 31089180 31089180 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 31089180 31089180 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.1535 p.R512Q 0.415 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 37 0 0 25 4 13.7931 KAT8 0 genome.wustl.edu 37 16 31131804 31131804 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 31131804 31131804 G A SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.431 p.R144H 1.000 superfamily_Chromodomain-like pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 38 0 0 17 11 39.2857 PRSS36 0 genome.wustl.edu 37 16 31154777 31154777 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 31154777 31154777 G T SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known missense c.986 p.P329Q 0.000 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 72 0 0 26 19 42.2222 ITGAM 0 genome.wustl.edu 37 16 31309156 31309156 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 31309156 31309156 G A SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.1591 p.V531I 0.957 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 87 0 0 61 38 38.3838 ITFG3 0 genome.wustl.edu 37 16 314628 314628 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 314628 314628 C T SNP ITFG3 ENST00000301678 human ensembl 74_37 +1 known missense c.1360 p.R454W 0.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors ITFG3 HGNC ENSG00000167930 59 0 0 29 19 39.5833 NLRC3 0 genome.wustl.edu 37 16 3613868 3613868 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 3613868 3613868 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.1211 p.P404L 0.989 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 77 0 0 35 19 35.1852 CREBBP 0 genome.wustl.edu 37 16 3828769 3828769 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 3828769 3828769 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.1873 p.R625C 1.000 pfam_KIX_dom,superfamily_KIX_dom,pfscan_KIX_dom pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 174 0 0 75 62 45.2555 LOC100134368 0 genome.wustl.edu 37 16 436734 436734 + RNA SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 436734 436734 A C SNP LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.521 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 32 0 0 15 6 28.5714 VASN 0 genome.wustl.edu 37 16 4432309 4432309 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 4432309 4432309 C T SNP VASN ENST00000304735 human ensembl 74_37 +1 known silent c.1431 p.R477 0.001 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 29 0 0 12 6 33.3333 N4BP1 0 genome.wustl.edu 37 16 48585361 48585361 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 48585361 48585361 C T SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known missense c.2053 p.G685R 0.993 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 152 0 0 78 52 40 GLYR1 0 genome.wustl.edu 37 16 4862113 4862113 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 4862113 4862113 G A SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.1256 p.A419V 1.000 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 47 0 0 34 25 42.3729 SNX20 0 genome.wustl.edu 37 16 50707922 50707922 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 50707922 50707922 G A SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known missense c.346 p.R116C 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 64 0 0 44 24 35.2941 CYLD 0 genome.wustl.edu 37 16 50826538 50826538 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 50826538 50826538 C T SNP CYLD ENST00000311559 human ensembl 74_37 +1 known nonsense c.2272 p.R758* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 22 0 0 13 6 31.5789 RBL2 0 genome.wustl.edu 37 16 53501054 53501054 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 53501054 53501054 C T SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known missense c.1948 p.R650C 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 152 0 0 86 56 39.4366 MMP2 0 genome.wustl.edu 37 16 55522591 55522591 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 55522591 55522591 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.969 p.Y323 0.917 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 24 0 0 6 5 45.4545 FAM192A 0 genome.wustl.edu 37 16 57201038 57201038 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 57201038 57201038 G A SNP FAM192A ENST00000309137 human ensembl 74_37 -1 known missense c.449 p.A150V 1.000 NULL pfam_Nefa_Nip30_N - no_errors FAM192A HGNC ENSG00000172775 152 0 0 88 64 42.1053 CNGB1 0 genome.wustl.edu 37 16 57935308 57935308 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 57935308 57935308 A G SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.2924 p.L975P 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 132 0 0 89 43 32.5758 E2F4 0 genome.wustl.edu 37 16 67229829 67229829 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 67229829 67229829 G A SNP E2F4 ENST00000379378 human ensembl 74_37 +1 known missense c.953 p.S318N 1.000 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 110 1 0.900901 77 12 13.4831 TPPP3 0 genome.wustl.edu 37 16 67424238 67424238 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 67424238 67424238 G A SNP TPPP3 ENST00000290942 human ensembl 74_37 -1 known missense c.370 p.R124W 1.000 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP3 HGNC ENSG00000159713 192 0 0 90 80 47.0588 HSD11B2 0 genome.wustl.edu 37 16 67470747 67470747 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 67470747 67470747 C T SNP HSD11B2 ENST00000326152 human ensembl 74_37 +1 known silent c.1059 p.Y353 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 193 0 0 88 55 38.4615 CTCF 0 genome.wustl.edu 37 16 67670706 67670706 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 67670706 67670706 C T SNP CTCF ENST00000264010 human ensembl 74_37 +1 known missense c.1951 p.R651W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 254 0 0 161 61 27.4775 CENPT 0 genome.wustl.edu 37 16 67865197 67865197 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 67865197 67865197 G A SNP CENPT ENST00000219172 human ensembl 74_37 -1 known missense c.625 p.R209C 0.998 NULL superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 65 0 0 30 19 38.7755 WFIKKN1 0 genome.wustl.edu 37 16 683935 683935 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 683935 683935 G A SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known missense c.1525 p.D509N 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 12 0 0 7 3 30 SMPD3 0 genome.wustl.edu 37 16 68395144 68395144 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 68395144 68395144 G A SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known nonsense c.1933 p.R645* 1.000 superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 26 0 0 9 15 62.5 SMPD3 0 genome.wustl.edu 37 16 68405487 68405487 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 68405487 68405487 C T SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.598 p.V200I 0.004 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 25 0 0 19 15 44.1176 CDH3 0 genome.wustl.edu 37 16 68713830 68713830 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 68713830 68713830 C T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.820 p.R274W 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 84 0 0 38 32 45.7143 TANGO6 0 genome.wustl.edu 37 16 68941412 68941412 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 68941412 68941412 C T SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known silent c.1734 p.L578 0.275 pfam_DUF2435,superfamily_ARM-type_fold pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 41 0 0 41 27 39.7059 TANGO6 0 genome.wustl.edu 37 16 69117396 69117396 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 69117396 69117396 C T SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known silent c.3117 p.S1039 0.493 superfamily_ARM-type_fold pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 19 0 0 10 6 37.5 RHOT2 0 genome.wustl.edu 37 16 720697 720697 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 720697 720697 C T SNP RHOT2 ENST00000315082 human ensembl 74_37 +1 known missense c.563 p.A188V 0.995 pirsf_Rho_GTPase_Mt,superfamily_P-loop_NTPase pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_hand_dom - no_errors RHOT2 HGNC ENSG00000140983 143 0 0 75 42 35.8974 DHX38 0 genome.wustl.edu 37 16 72141380 72141380 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 72141380 72141380 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known silent c.2742 p.P914 0.141 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 43 0 0 26 15 36.5854 ZFHX3 0 genome.wustl.edu 37 16 72831391 72831391 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 72831391 72831391 T C SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.5190 p.Q1730 0.993 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 30 0 0 32 2 5.88235 TMEM231 0 genome.wustl.edu 37 16 75579361 75579361 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 75579361 75579361 C T SNP TMEM231 ENST00000570006 human ensembl 74_37 -1 known missense c.433 p.V145I 0.005 NULL pfam_TMEM231 - no_errors TMEM231 HGNC ENSG00000205084 65 0 0 43 25 36.7647 CNTNAP4 0 genome.wustl.edu 37 16 76528929 76528929 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 76528929 76528929 T C SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.2200 p.Y734H 0.954 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 157 0 0 90 43 32.3308 ADAMTS18 0 genome.wustl.edu 37 16 77369733 77369733 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 77369733 77369733 G A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known silent c.1779 p.S593 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 217 1 0.458716 133 79 37.2642 MBTPS1 0 genome.wustl.edu 37 16 84129294 84129294 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 84129294 84129294 G A SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.538 p.H180Y 1.000 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 157 0 0 83 61 42.3611 ENSG00000261286 0 genome.wustl.edu 37 16 84493038 84493038 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 84493038 84493038 C T SNP ENSG00000261286 ENST00000565700 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-517C16.2 Clone_based_vega_gene ENSG00000261286 38 0 0 20 12 37.5 CHTF18 0 genome.wustl.edu 37 16 847749 847749 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 847749 847749 C T SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known missense c.3416 p.A1139V 0.116 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 73 0 0 27 20 42.5532 FOXF1 0 genome.wustl.edu 37 16 86544636 86544636 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 86544636 86544636 T C SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.461 p.M154T 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 123 0 0 58 27 31.7647 JPH3 0 genome.wustl.edu 37 16 87678038 87678038 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 87678038 87678038 C T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known missense c.557 p.A186V 0.996 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 107 0 0 97 7 6.73077 TRAPPC2L 0 genome.wustl.edu 37 16 88926431 88926431 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 88926431 88926431 T C SNP TRAPPC2L ENST00000565504 human ensembl 74_37 +1 putative missense c.425 p.L142S 0.094 NULL pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2L HGNC ENSG00000167515 44 0 0 23 14 37.8378 VPS9D1 0 genome.wustl.edu 37 16 89777020 89777020 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 89777020 89777020 G A SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.1232 p.A411V 0.156 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 52 0 0 11 22 66.6667 VPS9D1 0 genome.wustl.edu 37 16 89777021 89777021 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 89777021 89777021 C T SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.1231 p.A411T 0.183 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 52 0 0 27 5 15.625 GRIN2A 0 genome.wustl.edu 37 16 9858350 9858350 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 9858350 9858350 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.3051 p.S1017 0.998 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 117 0 0 59 42 41.5842 GRIN2A 0 genome.wustl.edu 37 16 9943710 9943710 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 9943710 9943710 G T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.1231 p.L411M 0.958 NULL pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 97 0 0 58 38 39.5833 MYH4 0 genome.wustl.edu 37 17 10348335 10348335 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 10348335 10348335 C T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.5424 p.A1808 0.737 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 122 0 0 93 46 33.0935 MYH3 0 genome.wustl.edu 37 17 10533718 10533718 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 10533718 10533718 G A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.5344 p.R1782W 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 137 0 0 92 45 32.8467 MYH3 0 genome.wustl.edu 37 17 10533732 10533732 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 10533732 10533732 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.5330 p.S1777N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 137 0 0 94 38 28.7879 MAP2K4 0 genome.wustl.edu 37 17 12011144 12011144 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 12011144 12011144 C T SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known missense c.584 p.S195L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K4 HGNC ENSG00000065559 117 0 0 88 44 33.3333 ELAC2 0 genome.wustl.edu 37 17 12920927 12920927 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 12920927 12920927 G A SNP ELAC2 ENST00000609345 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ELAC2 HGNC ENSG00000006744 8 0 0 6 6 50 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 74 0 0 91 47 34.058 SCARF1 0 genome.wustl.edu 37 17 1548210 1548210 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 1548210 1548210 G A SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known silent c.183 p.D61 0.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 28 0 0 19 11 36.6667 TRIM16 0 genome.wustl.edu 37 17 15532407 15532407 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 15532407 15532407 G A SNP TRIM16 ENST00000336708 human ensembl 74_37 -1 known missense c.1217 p.P406L 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 41 0 0 26 11 29.7297 TRIM16 0 genome.wustl.edu 37 17 15554526 15554526 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 15554526 15554526 G A SNP TRIM16 ENST00000336708 human ensembl 74_37 -1 known missense c.398 p.A133V 0.217 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 66 0 0 37 28 43.0769 WDR81 0 genome.wustl.edu 37 17 1637421 1637421 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 1637421 1637421 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.5090 p.R1697H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 77 0 0 28 21 42.8571 RAI1 0 genome.wustl.edu 37 17 17698048 17698048 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 17698048 17698048 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.1786 p.R596W 0.816 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 109 0 0 58 20 25.641 MYO15A 0 genome.wustl.edu 37 17 18023050 18023050 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 18023050 18023050 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.936 p.Y312 0.001 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 112 0 0 63 32 33.6842 TOP3A 0 genome.wustl.edu 37 17 18180995 18180995 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 18180995 18180995 C T SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known missense c.2821 p.A941T 0.797 NULL pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 107 0 0 68 36 34.6154 SNORD3B-2 0 genome.wustl.edu 37 17 18967340 18967340 + RNA SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 18967340 18967340 C A SNP SNORD3B-2 ENST00000364880 human ensembl 74_37 -1 known rna NULL NULL 0.052 - - - no_errors SNORD3B-2 HGNC ENSG00000262074 40 0 0 34 11 24.4444 MAPK7 0 genome.wustl.edu 37 17 19284209 19284209 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 19284209 19284209 G A SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known silent c.687 p.A229 0.986 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK7 HGNC ENSG00000166484 42 0 0 19 16 45.7143 RNF112 0 genome.wustl.edu 37 17 19315988 19315988 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 19315988 19315988 G A SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel silent c.273 p.P91 0.211 smart_Znf_RING,pfscan_Znf_RING pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 37 0 0 20 14 41.1765 MAP2K3 0 genome.wustl.edu 37 17 21208385 21208385 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 21208385 21208385 T C SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known missense c.719 p.L240P 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K3 HGNC ENSG00000034152 171 0 0 127 18 12.4138 WSB1 0 genome.wustl.edu 37 17 25637145 25637145 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 25637145 25637145 C T SNP WSB1 ENST00000262394 human ensembl 74_37 +1 known nonsense c.943 p.R315* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB1 HGNC ENSG00000109046 84 0 0 54 36 40 FLOT2 0 genome.wustl.edu 37 17 27215973 27215973 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27215973 27215973 C T SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.121 p.D41N 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 40 0 0 20 12 37.5 SEZ6 0 genome.wustl.edu 37 17 27285070 27285070 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27285070 27285070 C T SNP SEZ6 ENST00000317338 human ensembl 74_37 -1 known missense c.2197 p.V733M 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 88 0 0 49 26 34.6667 SEZ6 0 genome.wustl.edu 37 17 27308688 27308688 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27308688 27308688 G A SNP SEZ6 ENST00000317338 human ensembl 74_37 -1 known missense c.425 p.P142L 0.005 NULL pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 30 0 0 17 5 22.7273 MYO18A 0 genome.wustl.edu 37 17 27493048 27493048 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27493048 27493048 C T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.911 p.R304Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 143 1 0.694444 77 58 42.963 TAOK1 0 genome.wustl.edu 37 17 27869613 27869613 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27869613 27869613 G A SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known missense c.2579 p.R860H 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 97 0 0 65 45 40.9091 SSH2 0 genome.wustl.edu 37 17 27958582 27958582 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27958582 27958582 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known silent c.3549 p.S1183 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 107 0 0 71 37 34.2593 SLC6A4 0 genome.wustl.edu 37 17 28525491 28525491 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 28525491 28525491 G A SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known missense c.1876 p.R626C 1.000 NULL pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 57 0 0 43 25 36.7647 LRRC37B 0 genome.wustl.edu 37 17 30348267 30348267 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 30348267 30348267 G A SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known silent c.102 p.P34 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 130 0 0 97 18 15.6522 RHBDL3 0 genome.wustl.edu 37 17 30621430 30621430 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 30621430 30621430 C T SNP RHBDL3 ENST00000269051 human ensembl 74_37 +1 known missense c.637 p.R213C 1.000 pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_hand_dom - no_errors RHBDL3 HGNC ENSG00000141314 70 0 0 64 5 7.24638 PSMD11 0 genome.wustl.edu 37 17 30804557 30804557 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 30804557 30804557 G A SNP PSMD11 ENST00000261712 human ensembl 74_37 +1 known missense c.868 p.V290M 1.000 pfam_PCI_dom,smart_PAM pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD11 HGNC ENSG00000108671 78 0 0 75 4 5.06329 ZNF830 0 genome.wustl.edu 37 17 33289371 33289371 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 33289371 33289371 G T SNP ZNF830 ENST00000361952 human ensembl 74_37 +1 known missense c.786 p.K262N 1.000 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 58 0 0 36 25 40.9836 SLC35G3 0 genome.wustl.edu 37 17 33521221 33521221 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 33521221 33521221 C T SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known missense c.106 p.A36T 0.991 NULL pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 93 0 0 38 38 50 SLFN12 0 genome.wustl.edu 37 17 33749996 33749996 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 33749996 33749996 C T SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known missense c.52 p.V18M 0.001 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 152 0 0 102 61 37.4233 ITGAE 0 genome.wustl.edu 37 17 3651333 3651333 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 3651333 3651333 C T SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.2038 p.V680I 0.959 pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 60 0 0 24 11 31.4286 CASC3 0 genome.wustl.edu 37 17 38319960 38319960 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 38319960 38319960 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1012 p.R338W 0.896 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 231 0 0 147 68 31.6279 KRT27 0 genome.wustl.edu 37 17 38938526 38938526 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 38938526 38938526 C A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.220 p.G74W 0.102 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 112 0 0 48 35 42.1687 KRT39 0 genome.wustl.edu 37 17 39116561 39116561 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 39116561 39116561 G A SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known missense c.1189 p.R397C 0.965 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 106 0 0 116 12 9.375 KRT31 0 genome.wustl.edu 37 17 39551220 39551220 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 39551220 39551220 G A SNP KRT31 ENST00000251645 human ensembl 74_37 -1 known missense c.977 p.A326V 0.485 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 110 0 0 57 34 37.3626 JUP 0 genome.wustl.edu 37 17 39777997 39777997 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 39777997 39777997 C T SNP JUP ENST00000540235 human ensembl 74_37 -1 known missense c.1159 p.A387T 0.019 pfam_IF,superfamily_Prefoldin pfam_IF,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 75 0 0 33 15 31.25 STAT5A 0 genome.wustl.edu 37 17 40453375 40453375 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 40453375 40453375 G A SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.1072 p.G358R 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 131 0 0 78 44 36.0656 HSD17B1 0 genome.wustl.edu 37 17 40705488 40705488 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 40705488 40705488 G A SNP HSD17B1 ENST00000585807 human ensembl 74_37 +1 known silent c.297 p.P99 0.963 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 65 0 0 30 24 44.4444 TUBG1 0 genome.wustl.edu 37 17 40765935 40765935 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 40765935 40765935 C T SNP TUBG1 ENST00000251413 human ensembl 74_37 +1 known silent c.762 p.I254 0.958 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC ENSG00000131462 163 0 0 132 38 22.3529 TUBG2 0 genome.wustl.edu 37 17 40814996 40814996 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 40814996 40814996 C T SNP TUBG2 ENST00000251412 human ensembl 74_37 +1 known silent c.405 p.F135 0.957 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 133 0 0 69 60 46.5116 CNTNAP1 0 genome.wustl.edu 37 17 40844682 40844682 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 40844682 40844682 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.2696 p.R899Q 0.961 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 84 0 0 59 30 33.7079 AOC3 0 genome.wustl.edu 37 17 41004138 41004138 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 41004138 41004138 A G SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.778 p.T260A 0.224 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 63 0 0 38 19 33.3333 AOC3 0 genome.wustl.edu 37 17 41006671 41006671 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 41006671 41006671 T A SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.1807 p.Y603N 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 50 0 0 31 25 44.6429 PTGES3L-AARSD1 0 genome.wustl.edu 37 17 41108509 41108509 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 41108509 41108509 G A SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 74_37 -1 known missense c.980 p.A327V 0.999 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core pfam_tRNA_SAD,pfam_CS_dom,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS_dom,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC ENSG00000108825 48 0 0 37 17 31.4815 NBR1 0 genome.wustl.edu 37 17 41343459 41343459 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 41343459 41343459 C T SNP NBR1 ENST00000341165 human ensembl 74_37 +1 known missense c.934 p.R312C 1.000 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 18 0 0 13 6 31.5789 UBTF 0 genome.wustl.edu 37 17 42288502 42288502 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 42288502 42288502 G C SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.1108 p.Q370E 1.000 superfamily_HMG_box_dom,superfamily_ARM-type_fold pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 137 0 0 66 52 44.0678 SLC4A1 0 genome.wustl.edu 37 17 42330695 42330695 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 42330695 42330695 C T SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.2102 p.G701D 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 84 0 0 48 23 32.3944 FZD2 0 genome.wustl.edu 37 17 42636425 42636425 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 42636425 42636425 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.1369 p.R457W 0.999 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 91 0 0 47 42 47.191 PLCD3 0 genome.wustl.edu 37 17 43192542 43192542 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 43192542 43192542 T G SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known missense c.1628 p.H543P 0.002 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 13 0 0 4 3 42.8571 TBKBP1 0 genome.wustl.edu 37 17 45786619 45786619 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 45786619 45786619 G A SNP TBKBP1 ENST00000361722 human ensembl 74_37 +1 known missense c.1520 p.R507H 0.996 NULL NULL - no_errors TBKBP1 HGNC ENSG00000198933 9 0 0 1 3 75 PELP1 0 genome.wustl.edu 37 17 4579121 4579121 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 4579121 4579121 G A SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.1039 p.R347W 1.000 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 10 0 0 8 2 20 HOXB5 0 genome.wustl.edu 37 17 46670643 46670643 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 46670643 46670643 G A SNP HOXB5 ENST00000239151 human ensembl 74_37 -1 known silent c.402 p.D134 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 58 0 0 25 20 44.4444 HOXB6 0 genome.wustl.edu 37 17 46674002 46674002 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 46674002 46674002 G A SNP HOXB6 ENST00000225648 human ensembl 74_37 -1 known missense c.448 p.R150C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_antennapedia pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB6 HGNC ENSG00000108511 103 0 0 59 36 37.8947 COL1A1 0 genome.wustl.edu 37 17 48267382 48267382 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 48267382 48267382 C T SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.2539 p.A847T 0.982 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 71 0 0 45 48 51.6129 XYLT2 0 genome.wustl.edu 37 17 48434499 48434499 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 48434499 48434499 G A SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known silent c.1827 p.A609 0.498 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 51 0 0 22 20 47.619 EPN3 0 genome.wustl.edu 37 17 48618282 48618282 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 48618282 48618282 T G SNP EPN3 ENST00000537145 human ensembl 74_37 +1 known missense c.1192 p.S398A 1.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 50 0 0 26 14 35 CAMTA2 0 genome.wustl.edu 37 17 4880409 4880409 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 4880409 4880409 C T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.1913 p.R638Q 1.000 superfamily_Ig_E-set pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 108 0 0 63 46 42.2018 CAMTA2 0 genome.wustl.edu 37 17 4886166 4886166 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 4886166 4886166 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.294 p.I98 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 97 0 0 54 31 36.4706 KIF2B 0 genome.wustl.edu 37 17 51901717 51901717 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 51901717 51901717 C T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.1323 p.G441 0.997 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 56 0 0 38 23 37.7049 TOM1L1 0 genome.wustl.edu 37 17 53014489 53014489 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 53014489 53014489 C T SNP TOM1L1 ENST00000575882 human ensembl 74_37 +1 known missense c.935 p.A312V 1.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC ENSG00000141198 104 0 0 51 38 42.6966 VEZF1 0 genome.wustl.edu 37 17 56056639 56056639 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 56056639 56056639 G T SNP VEZF1 ENST00000581208 human ensembl 74_37 -1 known missense c.1012 p.Q338K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 154 0 0 106 10 8.62069 OR4D1 0 genome.wustl.edu 37 17 56233200 56233200 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 56233200 56233200 C T SNP OR4D1 ENST00000268912 human ensembl 74_37 +1 known missense c.686 p.S229L 0.194 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D1 HGNC ENSG00000141194 59 0 0 36 23 38.9831 RAD51C 0 genome.wustl.edu 37 17 56811500 56811500 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 56811500 56811500 G A SNP RAD51C ENST00000337432 human ensembl 74_37 +1 known missense c.1048 p.V350I 0.903 superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51C HGNC ENSG00000108384 32 0 0 19 12 38.7097 TBX2 0 genome.wustl.edu 37 17 59485721 59485721 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 59485721 59485721 C T SNP TBX2 ENST00000240328 human ensembl 74_37 +1 novel missense c.1993 p.R665C 0.872 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 13 0 0 7 5 41.6667 TANC2 0 genome.wustl.edu 37 17 61498206 61498206 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 61498206 61498206 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known silent c.4863 p.A1621 0.183 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 113 0 0 78 36 31.5789 CCDC47 0 genome.wustl.edu 37 17 61824306 61824306 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 61824306 61824306 G A SNP CCDC47 ENST00000225726 human ensembl 74_37 -1 known missense c.1387 p.R463C 1.000 pfam_DUF1682 pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 20 0 0 13 15 53.5714 FTSJ3 0 genome.wustl.edu 37 17 61898289 61898289 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 61898289 61898289 C T SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.1982 p.R661Q 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 93 0 0 54 34 38.6364 SMARCD2 0 genome.wustl.edu 37 17 61912912 61912912 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 61912912 61912912 G A SNP SMARCD2 ENST00000448276 human ensembl 74_37 -1 known missense c.583 p.R195W 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 89 0 0 47 26 35.6164 CSH1 0 genome.wustl.edu 37 17 61972557 61972557 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 61972557 61972557 C T SNP CSH1 ENST00000316193 human ensembl 74_37 -1 known missense c.479 p.R160Q 0.773 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH1 HGNC ENSG00000136488 159 1 0.625 97 61 38.6076 KPNA2 0 genome.wustl.edu 37 17 66040473 66040473 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 66040473 66040473 G A SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known missense c.1201 p.V401M 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 266 0 0 213 17 7.3913 FAM20A 0 genome.wustl.edu 37 17 66533689 66533689 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 66533689 66533689 G A SNP FAM20A ENST00000592554 human ensembl 74_37 -1 known nonsense c.1555 p.Q519* 0.989 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20A HGNC ENSG00000108950 19 0 0 19 11 36.6667 KCNJ16 0 genome.wustl.edu 37 17 68128923 68128923 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 68128923 68128923 C T SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known missense c.695 p.T232M 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 91 0 0 60 30 33.3333 KCNJ16 0 genome.wustl.edu 37 17 68129127 68129127 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 68129127 68129127 T A SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known missense c.899 p.V300D 0.748 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 123 0 0 66 38 36.5385 MIR497HG 0 genome.wustl.edu 37 17 6920072 6920072 + RNA SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 6920072 6920072 C A SNP MIR497HG ENST00000572453 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR497HG HGNC ENSG00000267532 20 0 0 18 12 40 RAB37 0 genome.wustl.edu 37 17 72739292 72739292 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 72739292 72739292 C T SNP RAB37 ENST00000392614 human ensembl 74_37 +1 known missense c.286 p.R96W 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB37 HGNC ENSG00000172794 131 0 0 68 33 32.6733 GGA3 0 genome.wustl.edu 37 17 73239146 73239146 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 73239146 73239146 T C SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.526 p.K176E 1.000 pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 105 0 0 82 45 35.4331 C17orf74 0 genome.wustl.edu 37 17 7329696 7329696 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 7329696 7329696 G A SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.386 p.R129H 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 92 0 0 50 28 35.8974 GRB2 0 genome.wustl.edu 37 17 73316454 73316454 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 73316454 73316454 C T SNP GRB2 ENST00000316804 human ensembl 74_37 -1 known missense c.649 p.V217I 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_SH2,pfam_SH3-like_bac-type,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain,prints_p67phox - no_errors GRB2 HGNC ENSG00000177885 211 0 0 135 85 38.6364 KIAA0195 0 genome.wustl.edu 37 17 73486331 73486331 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 73486331 73486331 C A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.971 p.P324H 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 137 0 0 77 40 34.188 ZBTB4 0 genome.wustl.edu 37 17 7365565 7365565 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 7365565 7365565 A G SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known silent c.2736 p.A912 0.998 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 172 0 0 88 62 41.3333 GALR2 0 genome.wustl.edu 37 17 74071131 74071131 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 74071131 74071131 C T SNP GALR2 ENST00000329003 human ensembl 74_37 +1 known missense c.167 p.A56V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 61 0 0 25 26 50.9804 BIRC5 0 genome.wustl.edu 37 17 76212679 76212679 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 76212679 76212679 C T SNP BIRC5 ENST00000589892 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BIRC5 HGNC ENSG00000089685 61 0 0 49 32 39.5062 ENPP7 0 genome.wustl.edu 37 17 77707394 77707394 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 77707394 77707394 C T SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known silent c.342 p.G114 0.006 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 69 0 0 22 17 43.5897 ENPP7 0 genome.wustl.edu 37 17 77709291 77709291 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 77709291 77709291 C T SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known silent c.849 p.N283 0.042 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 68 0 0 46 17 26.9841 GAA 0 genome.wustl.edu 37 17 78090851 78090851 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 78090851 78090851 C T SNP GAA ENST00000302262 human ensembl 74_37 +1 known silent c.2274 p.A758 0.017 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 49 0 0 25 21 45.6522 SLC26A11 0 genome.wustl.edu 37 17 78195370 78195370 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 78195370 78195370 C T SNP SLC26A11 ENST00000361193 human ensembl 74_37 +1 known missense c.11 p.S4L 0.001 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 18 0 0 13 4 23.5294 TRAPPC1 0 genome.wustl.edu 37 17 7833935 7833935 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 7833935 7833935 G A SNP TRAPPC1 ENST00000303731 human ensembl 74_37 -1 known missense c.427 p.R143W 1.000 NULL pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC1 HGNC ENSG00000170043 49 0 0 26 21 44.6809 LOC100294362 0 genome.wustl.edu 37 17 78388912 78388912 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 78388912 78388912 G A SNP LOC100294362 ENST00000572151 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors CTD-2047H16.4 Clone_based_vega_gene ENSG00000263069 14 0 0 4 5 55.5556 AATK 0 genome.wustl.edu 37 17 79094123 79094123 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 79094123 79094123 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.3613 p.R1205C 0.051 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 49 0 0 21 13 38.2353 AATK 0 genome.wustl.edu 37 17 79095729 79095729 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 79095729 79095729 C T SNP AATK ENST00000326724 human ensembl 74_37 -1 known silent c.2007 p.A669 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 47 0 0 19 12 38.7097 SLC38A10 0 genome.wustl.edu 37 17 79220706 79220706 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 79220706 79220706 C T SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.2221 p.E741K 0.540 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 77 0 0 37 26 41.2698 SLC38A10 0 genome.wustl.edu 37 17 79234119 79234119 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 79234119 79234119 C T SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.1207 p.E403K 0.001 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 19 0 0 15 5 25 ALOX12B 0 genome.wustl.edu 37 17 7976235 7976235 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 7976235 7976235 C T SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1960 p.V654M 0.950 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 44 0 0 22 16 42.1053 DCXR 0 genome.wustl.edu 37 17 79994510 79994510 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 79994510 79994510 T C SNP DCXR ENST00000306869 human ensembl 74_37 -1 known missense c.358 p.R120G 0.888 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors DCXR HGNC ENSG00000169738 68 0 0 35 31 46.9697 FASN 0 genome.wustl.edu 37 17 80041487 80041487 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 80041487 80041487 C T SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.5247 p.A1749 0.827 pfam_ADH_C,smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 17 0 0 11 6 35.2941 FASN 0 genome.wustl.edu 37 17 80049207 80049207 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 80049207 80049207 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.1383 p.P461 0.001 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 19 0 0 10 9 47.3684 PFAS 0 genome.wustl.edu 37 17 8172397 8172397 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 8172397 8172397 C A SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.3832 p.P1278T 0.999 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 85 0 0 53 37 41.1111 MYH10 0 genome.wustl.edu 37 17 8408178 8408178 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 8408178 8408178 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known nonsense c.3403 p.R1135* 0.975 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 165 0 0 147 11 6.96203 MFSD6L 0 genome.wustl.edu 37 17 8700837 8700837 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 8700837 8700837 C T SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known nonsense c.1602 p.W534* 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 46 0 0 36 22 37.931 WDR16 0 genome.wustl.edu 37 17 9489257 9489257 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 9489257 9489257 G A SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known missense c.268 p.A90T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 118 1 0.840336 70 37 34.5794 DHRS7C 0 genome.wustl.edu 37 17 9694592 9694592 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 9694592 9694592 T C SNP DHRS7C ENST00000330255 human ensembl 74_37 -1 known missense c.10 p.M4V 0.536 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7C HGNC ENSG00000184544 26 0 0 12 11 47.8261 TUBB6 0 genome.wustl.edu 37 18 12325616 12325616 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 12325616 12325616 C T SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known silent c.828 p.R276 0.080 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_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_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 83 0 0 32 34 51.5152 ANKRD20A5P 0 genome.wustl.edu 37 18 14179436 14179436 + RNA SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 14179436 14179436 C A SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 23 0 0 13 5 27.7778 RIOK3 0 genome.wustl.edu 37 18 21057190 21057190 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 21057190 21057190 C T SNP RIOK3 ENST00000339486 human ensembl 74_37 +1 known silent c.1302 p.H434 0.977 pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 105 0 0 58 39 40.2062 ZNF521 0 genome.wustl.edu 37 18 22807137 22807137 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 22807137 22807137 T C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.745 p.S249G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 84 0 0 50 30 37.5 KCTD1 0 genome.wustl.edu 37 18 24039669 24039669 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 24039669 24039669 T C SNP KCTD1 ENST00000417602 human ensembl 74_37 -1 known missense c.2354 p.N785S 1.000 NULL pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 69 0 0 47 36 43.3735 SYT4 0 genome.wustl.edu 37 18 40851770 40851770 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 40851770 40851770 T A SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.877 p.I293F 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 103 0 0 57 43 43 SETBP1 0 genome.wustl.edu 37 18 42281385 42281385 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 42281385 42281385 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.74 p.A25V 0.709 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 13 0 0 3 4 57.1429 SETBP1 0 genome.wustl.edu 37 18 42281469 42281469 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 42281469 42281469 A G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.158 p.E53G 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 42 0 0 28 19 40.4255 SETBP1 0 genome.wustl.edu 37 18 42531549 42531549 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 42531549 42531549 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.2244 p.H748 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 55 0 0 42 21 33.3333 SETBP1 0 genome.wustl.edu 37 18 42531687 42531687 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 42531687 42531687 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.2382 p.S794 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 56 0 0 35 27 43.5484 SMAD2 0 genome.wustl.edu 37 18 45395688 45395688 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 45395688 45395688 C T SNP SMAD2 ENST00000262160 human ensembl 74_37 -1 known missense c.446 p.C149Y 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,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 SMAD2 HGNC ENSG00000175387 42 0 0 19 11 36.6667 ACAA2 0 genome.wustl.edu 37 18 47322226 47322226 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 47322226 47322226 A G SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.338 p.V113A 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 50 0 0 34 23 40.3509 MAPK4 0 genome.wustl.edu 37 18 48256134 48256134 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 48256134 48256134 C T SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known silent c.1674 p.D558 0.923 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 18 0 0 5 4 44.4444 DCC 0 genome.wustl.edu 37 18 50936875 50936875 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 50936875 50936875 A T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.2989 p.M997L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 127 0 0 83 53 38.9706 TMEM200C 0 genome.wustl.edu 37 18 5891840 5891840 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 5891840 5891840 A G SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known missense c.223 p.W75R 1.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 66 0 0 26 11 29.7297 CDH20 0 genome.wustl.edu 37 18 59221697 59221697 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 59221697 59221697 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known silent c.2175 p.Y725 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 33 0 0 18 10 35.7143 KIAA1468 0 genome.wustl.edu 37 18 59855209 59855209 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 59855209 59855209 C T SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known silent c.471 p.G157 0.052 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 19 0 0 8 7 46.6667 SERPINB5 0 genome.wustl.edu 37 18 61156698 61156698 + Splice_Site SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 61156698 61156698 G A SNP SERPINB5 ENST00000382771 human ensembl 74_37 +1 known splice_site c.424+1 e3+1 1.000 - - - no_errors SERPINB5 HGNC ENSG00000206075 52 0 0 38 19 33.3333 SERPINB7 0 genome.wustl.edu 37 18 61463517 61463517 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 61463517 61463517 C T SNP SERPINB7 ENST00000336429 human ensembl 74_37 +1 known silent c.354 p.A118 0.631 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC ENSG00000166396 37 0 0 24 16 40 SERPINB2 0 genome.wustl.edu 37 18 61570186 61570186 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 61570186 61570186 A G SNP SERPINB2 ENST00000299502 human ensembl 74_37 +1 known missense c.895 p.K299E 0.287 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 29 0 0 34 10 22.7273 DOK6 0 genome.wustl.edu 37 18 67365809 67365809 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 67365809 67365809 G A SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known nonsense c.579 p.W193* 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 36 0 0 38 4 9.52381 RTTN 0 genome.wustl.edu 37 18 67788837 67788837 + Silent SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 67788837 67788837 A C SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.3483 p.S1161 0.008 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 59 0 0 48 25 34.2466 LAMA1 0 genome.wustl.edu 37 18 6950849 6950849 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 6950849 6950849 A C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8329 p.F2777V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 60 0 0 46 20 30.303 LAMA1 0 genome.wustl.edu 37 18 6958539 6958539 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 6958539 6958539 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7901 p.T2634M 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 61 0 0 29 30 50.8475 CBLN2 0 genome.wustl.edu 37 18 70209264 70209264 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 70209264 70209264 G A SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known silent c.132 p.P44 0.997 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 37 0 0 13 13 50 NETO1 0 genome.wustl.edu 37 18 70534513 70534513 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 70534513 70534513 C T SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.14 p.R5H 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 20 0 0 9 8 47.0588 ATP9B 0 genome.wustl.edu 37 18 77119425 77119425 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 77119425 77119425 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2975 p.A992V 1.000 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 54 0 0 25 11 30.5556 KCNG2 0 genome.wustl.edu 37 18 77624158 77624158 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 77624158 77624158 G A SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.491 p.R164H 1.000 prints_K_chnl_volt-dep_Kv6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 31 0 0 10 11 52.381 PQLC1 0 genome.wustl.edu 37 18 77679291 77679291 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 77679291 77679291 G A SNP PQLC1 ENST00000397778 human ensembl 74_37 -1 known silent c.501 p.S167 0.007 NULL smart_CTNS - no_errors PQLC1 HGNC ENSG00000122490 69 0 0 33 20 37.7358 RBFA 0 genome.wustl.edu 37 18 77798609 77798609 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 77798609 77798609 G A SNP RBFA ENST00000306735 human ensembl 74_37 +1 known silent c.483 p.A161 0.000 pfam_Ribosome-bd_facA,superfamily_Ribosome-bd_facA_dom pfam_Ribosome-bd_facA,superfamily_Ribosome-bd_facA_dom - no_errors RBFA HGNC ENSG00000101546 66 0 0 41 24 36.9231 ADCYAP1 0 genome.wustl.edu 37 18 909505 909505 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 909505 909505 G C SNP ADCYAP1 ENST00000450565 human ensembl 74_37 +1 known missense c.400 p.D134H 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors ADCYAP1 HGNC ENSG00000141433 135 0 0 98 44 30.9859 ANKRD12 0 genome.wustl.edu 37 18 9254358 9254358 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 9254358 9254358 G T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.1093 p.D365Y 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 80 0 0 57 27 32.1429 CDKN2D 0 genome.wustl.edu 37 19 10677960 10677960 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 10677960 10677960 A G SNP CDKN2D ENST00000335766 human ensembl 74_37 -1 known missense c.275 p.V92A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2D HGNC ENSG00000129355 138 0 0 24 98 80.3279 SBNO2 0 genome.wustl.edu 37 19 1123582 1123582 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 1123582 1123582 C T SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known silent c.579 p.A193 0.204 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 37 0 0 10 24 70.5882 PRKCSH 0 genome.wustl.edu 37 19 11558370 11558370 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 11558370 11558370 G A SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known silent c.966 p.E322 0.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 11 0 0 3 6 66.6667 ZNF69 0 genome.wustl.edu 37 19 12015726 12015726 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 12015726 12015726 G A SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.514 p.A172T 0.030 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 ZNF69 HGNC ENSG00000198429 189 0 0 31 146 82.4859 MAN2B1 0 genome.wustl.edu 37 19 12772078 12772078 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 12772078 12772078 G A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.1022 p.A341V 0.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 98 0 0 75 28 27.1845 PRDX2 0 genome.wustl.edu 37 19 12910705 12910705 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 12910705 12910705 T C SNP PRDX2 ENST00000301522 human ensembl 74_37 -1 known missense c.479 p.Q160R 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX2 HGNC ENSG00000167815 72 0 0 16 68 80.9524 CC2D1A 0 genome.wustl.edu 37 19 14034191 14034191 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 14034191 14034191 C T SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known missense c.1687 p.R563W 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 94 0 0 81 5 5.81395 PRKACA 0 genome.wustl.edu 37 19 14217673 14217673 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 14217673 14217673 G A SNP PRKACA ENST00000308677 human ensembl 74_37 -1 known nonsense c.136 p.R46* 0.467 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 81 0 0 18 66 78.5714 PCSK4 0 genome.wustl.edu 37 19 1483414 1483414 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 1483414 1483414 G A SNP PCSK4 ENST00000588195 human ensembl 74_37 -1 known missense c.1426 p.R476W 0.016 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 63 0 0 52 4 7.14286 BRD4 0 genome.wustl.edu 37 19 15355182 15355182 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 15355182 15355182 C T SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.2441 p.G814D 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 17 0 0 13 3 18.75 WIZ 0 genome.wustl.edu 37 19 15536330 15536330 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 15536330 15536330 G A SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.3902 p.T1301I 0.175 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 22 0 0 9 8 47.0588 CYP4F12 0 genome.wustl.edu 37 19 15795637 15795637 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 15795637 15795637 G A SNP CYP4F12 ENST00000324632 human ensembl 74_37 +1 known silent c.930 p.G310 0.500 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F12 HGNC ENSG00000186204 72 0 0 41 24 36.9231 HSH2D 0 genome.wustl.edu 37 19 16268143 16268143 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 16268143 16268143 C T SNP HSH2D ENST00000253680 human ensembl 74_37 +1 known missense c.598 p.R200C 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors HSH2D HGNC ENSG00000196684 63 0 0 31 22 41.5094 ABHD8 0 genome.wustl.edu 37 19 17411739 17411739 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 17411739 17411739 C T SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known silent c.687 p.A229 0.919 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 127 0 0 73 52 41.6 COLGALT1 0 genome.wustl.edu 37 19 17683348 17683348 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 17683348 17683348 C T SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.886 p.R296C 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 118 0 0 70 33 32.0388 JAK3 0 genome.wustl.edu 37 19 17948862 17948862 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 17948862 17948862 A C SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.1580 p.L527R 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 94 0 0 54 45 45.4545 KCNN1 0 genome.wustl.edu 37 19 18092827 18092827 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 18092827 18092827 A G SNP KCNN1 ENST00000222249 human ensembl 74_37 +1 known missense c.808 p.T270A 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN1 HGNC ENSG00000105642 20 0 0 7 5 41.6667 KIAA1683 0 genome.wustl.edu 37 19 18378115 18378115 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 18378115 18378115 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.235 p.V79I 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 114 0 0 99 8 7.47664 GDF15 0 genome.wustl.edu 37 19 18499097 18499097 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 18499097 18499097 G A SNP GDF15 ENST00000252809 human ensembl 74_37 +1 known silent c.279 p.V93 0.899 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF15 HGNC ENSG00000130513 51 0 0 30 17 36.1702 ELL 0 genome.wustl.edu 37 19 18569015 18569015 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 18569015 18569015 C T SNP ELL ENST00000262809 human ensembl 74_37 -1 known missense c.869 p.R290Q 0.997 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 60 0 0 37 21 36.2069 KLHL26 0 genome.wustl.edu 37 19 18779108 18779108 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 18779108 18779108 C T SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.901 p.R301C 0.992 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 97 0 0 46 31 40.2597 GDF1 0 genome.wustl.edu 37 19 18980875 18980875 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 18980875 18980875 G A SNP GDF1 ENST00000247005 human ensembl 74_37 -1 known missense c.242 p.T81M 0.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF1 HGNC ENSG00000130283 9 0 0 4 4 50 COPE 0 genome.wustl.edu 37 19 19017912 19017912 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 19017912 19017912 G A SNP COPE ENST00000262812 human ensembl 74_37 -1 known silent c.300 p.I100 0.450 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 31 0 0 8 4 33.3333 SUGP2 0 genome.wustl.edu 37 19 19112468 19112468 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 19112468 19112468 C T SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.2945 p.R982Q 0.999 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 56 0 0 34 26 43.3333 HAPLN4 0 genome.wustl.edu 37 19 19371881 19371881 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 19371881 19371881 G A SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known silent c.225 p.A75 0.054 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 48 0 0 28 19 40.4255 ATP13A1 0 genome.wustl.edu 37 19 19762529 19762529 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 19762529 19762529 G A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known silent c.2304 p.H768 0.998 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V 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_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 54 0 0 23 24 51.0638 ZNF208 0 genome.wustl.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 22155896 22155896 A C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1940 p.I647S 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 65 0 0 66 5 7.04225 ZNF729 0 genome.wustl.edu 37 19 22497682 22497682 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 22497682 22497682 A G SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1463 p.Y488C 0.051 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 ZNF729 HGNC ENSG00000196350 34 0 0 18 9 33.3333 ZNF729 0 genome.wustl.edu 37 19 22498012 22498012 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 22498012 22498012 A G SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1793 p.K598R 0.989 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 21 0 0 11 9 45 LOC101929124 0 genome.wustl.edu 37 19 22707462 22707462 + RNA SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 22707462 22707462 A G SNP LOC101929124 ENST00000562262 human ensembl 74_37 -1 known rna NULL NULL 0.090 - - - no_errors CTC-457E21.1 Clone_based_vega_gene ENSG00000260599 59 0 0 31 19 38 ZNF728 0 genome.wustl.edu 37 19 23158556 23158556 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 23158556 23158556 A G SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel missense c.1583 p.V528A 0.952 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 ZNF728 HGNC ENSG00000269067 18 0 0 17 7 29.1667 URI1 0 genome.wustl.edu 37 19 30500156 30500156 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 30500156 30500156 G A SNP URI1 ENST00000542441 human ensembl 74_37 +1 known missense c.931 p.D311N 0.002 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 26 0 0 21 11 34.375 ZNF536 0 genome.wustl.edu 37 19 30934862 30934862 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 30934862 30934862 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.393 p.P131 0.594 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 53 0 0 23 24 51.0638 TSHZ3 0 genome.wustl.edu 37 19 31767913 31767913 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 31767913 31767913 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.2786 p.P929L 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 53 0 0 26 17 39.5349 S1PR4 0 genome.wustl.edu 37 19 3179235 3179235 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 3179235 3179235 C T SNP S1PR4 ENST00000246115 human ensembl 74_37 +1 known missense c.445 p.R149W 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR4 HGNC ENSG00000125910 106 0 0 17 76 81.7204 ATP4A 0 genome.wustl.edu 37 19 36046232 36046232 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 36046232 36046232 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.2162 p.A721V 0.992 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 63 0 0 24 9 27.2727 HAUS5 0 genome.wustl.edu 37 19 36106176 36106176 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 36106176 36106176 C T SNP HAUS5 ENST00000203166 human ensembl 74_37 +1 known nonsense c.373 p.R125* 0.000 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 37 0 0 18 6 25 KMT2B 0 genome.wustl.edu 37 19 36223432 36223432 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 36223432 36223432 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.5982 p.A1994 0.956 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 69 0 0 40 16 28.5714 IGFLR1 0 genome.wustl.edu 37 19 36230720 36230720 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 36230720 36230720 G A SNP IGFLR1 ENST00000246532 human ensembl 74_37 -1 known silent c.612 p.C204 0.000 NULL superfamily_DEATH-like_dom - no_errors IGFLR1 HGNC ENSG00000126246 186 0 0 93 59 38.8158 NPHS1 0 genome.wustl.edu 37 19 36333366 36333366 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 36333366 36333366 T C SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known silent c.2421 p.K807 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 152 0 0 80 50 38.4615 NPHS1 0 genome.wustl.edu 37 19 36339017 36339017 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 36339017 36339017 G A SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.1366 p.R456W 0.852 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 117 0 0 73 28 27.7228 KIRREL2 0 genome.wustl.edu 37 19 36351456 36351456 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 36351456 36351456 G A SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known missense c.815 p.R272H 0.981 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 95 0 0 55 35 38.8889 APLP1 0 genome.wustl.edu 37 19 36370282 36370282 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 36370282 36370282 G A SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.1895 p.R632H 0.978 pfam_APP_amyloid_C,prints_Amyloid_glyco 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 125 0 0 68 19 21.8391 ZNF567 0 genome.wustl.edu 37 19 37211524 37211524 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 37211524 37211524 T G SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known missense c.1898 p.I633S 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF567 HGNC ENSG00000189042 49 0 0 32 27 45.7627 TJP3 0 genome.wustl.edu 37 19 3730369 3730369 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 3730369 3730369 G A SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.335 p.R112Q 0.782 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 9 0 0 6 4 40 ZNF571-AS1 0 genome.wustl.edu 37 19 38077712 38077712 + RNA SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 38077712 38077712 A T SNP ZNF571-AS1 ENST00000585578 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF571-AS1 HGNC ENSG00000267470 27 0 0 12 9 42.8571 ZNF607 0 genome.wustl.edu 37 19 38190535 38190535 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 38190535 38190535 C T SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.497 p.R166H 0.705 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 ZNF607 HGNC ENSG00000198182 103 1 0.961538 54 32 37.2093 MAP4K1 0 genome.wustl.edu 37 19 39108029 39108029 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 39108029 39108029 G A SNP MAP4K1 ENST00000591517 human ensembl 74_37 -1 known silent c.213 p.H71 0.995 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 77 0 0 46 28 37.8378 LRFN1 0 genome.wustl.edu 37 19 39798594 39798594 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 39798594 39798594 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known silent c.1995 p.A665 0.283 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 11 0 0 7 3 30 SUPT5H 0 genome.wustl.edu 37 19 39963854 39963854 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 39963854 39963854 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.2270 p.R757H 0.998 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 73 0 0 37 25 40.3226 FCGBP 0 genome.wustl.edu 37 19 40364397 40364397 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 40364397 40364397 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.14245 p.G4749S 0.130 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 62 0 0 22 15 40.5405 FCGBP 0 genome.wustl.edu 37 19 40384083 40384083 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 40384083 40384083 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.9527 p.T3176M 0.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 214 0 0 173 34 16.4251 FCGBP 0 genome.wustl.edu 37 19 40424533 40424533 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 40424533 40424533 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.1670 p.S557L 0.008 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 12 0 0 10 5 33.3333 HIPK4 0 genome.wustl.edu 37 19 40886655 40886655 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 40886655 40886655 G A SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known nonsense c.1243 p.R415* 0.050 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK4 HGNC ENSG00000160396 121 0 0 72 35 32.7103 PRX 0 genome.wustl.edu 37 19 40900561 40900561 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 40900561 40900561 G A SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.3698 p.A1233V 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 81 0 0 36 29 44.6154 LTBP4 0 genome.wustl.edu 37 19 41116547 41116547 + Missense_Mutation SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 41116547 41116547 C G SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.1995 p.H665Q 0.763 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 15 0 0 11 6 35.2941 LTBP4 0 genome.wustl.edu 37 19 41133678 41133678 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 41133678 41133678 G A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.4633 p.G1545S 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 12 0 0 6 3 33.3333 NUMBL 0 genome.wustl.edu 37 19 41188655 41188655 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 41188655 41188655 C T SNP NUMBL ENST00000252891 human ensembl 74_37 -1 known missense c.377 p.R126Q 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 68 0 0 41 4 8.88889 ADCK4 0 genome.wustl.edu 37 19 41211331 41211331 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 41211331 41211331 G A SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known missense c.389 p.S130F 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 84 0 0 60 36 37.5 CYP2A7 0 genome.wustl.edu 37 19 41386063 41386063 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 41386063 41386063 C T SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known missense c.580 p.E194K 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 114 0 0 73 7 8.75 AXL 0 genome.wustl.edu 37 19 41758814 41758814 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 41758814 41758814 T C SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.1868 p.M623T 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 107 0 0 74 30 28.8462 CCDC97 0 genome.wustl.edu 37 19 41826288 41826288 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 41826288 41826288 C T SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known missense c.824 p.S275L 0.846 pfam_DUF2052_coiled-coil pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 76 0 0 42 23 35.3846 ANKRD24 0 genome.wustl.edu 37 19 4207553 4207553 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 4207553 4207553 G A SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known missense c.593 p.R198H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 137 0 0 78 41 34.4538 CEACAM5 0 genome.wustl.edu 37 19 42219022 42219022 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 42219022 42219022 C T SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known missense c.557 p.P186L 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 200 0 0 128 75 36.9458 DMRTC2 0 genome.wustl.edu 37 19 42354689 42354689 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 42354689 42354689 A G SNP DMRTC2 ENST00000269945 human ensembl 74_37 +1 known silent c.912 p.S304 0.613 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 51 0 0 39 24 38.0952 ARHGEF1 0 genome.wustl.edu 37 19 42398554 42398554 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 42398554 42398554 G T SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.820 p.A274S 0.503 NULL pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 50 0 0 35 13 27.0833 ATP1A3 0 genome.wustl.edu 37 19 42485961 42485961 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 42485961 42485961 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.1215 p.S405 0.028 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 68 0 0 63 6 8.69565 DEDD2 0 genome.wustl.edu 37 19 42703893 42703893 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 42703893 42703893 C T SNP DEDD2 ENST00000595337 human ensembl 74_37 -1 known silent c.678 p.A226 0.856 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 16 0 0 12 9 42.8571 ZNF526 0 genome.wustl.edu 37 19 42729656 42729656 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 42729656 42729656 C T SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known silent c.1101 p.R367 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 84 0 0 45 34 43.038 LIPE 0 genome.wustl.edu 37 19 42911849 42911849 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 42911849 42911849 G A SNP LIPE ENST00000244289 human ensembl 74_37 -1 known missense c.1751 p.T584M 0.062 pfam_HSL_N pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 124 0 0 55 28 33.7349 CEACAM8 0 genome.wustl.edu 37 19 43093151 43093151 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 43093151 43093151 T A SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known missense c.743 p.Y248F 0.028 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM8 HGNC ENSG00000124469 95 0 0 43 33 43.4211 CD177 0 genome.wustl.edu 37 19 43859670 43859670 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 43859670 43859670 C A SNP CD177 ENST00000378012 human ensembl 74_37 +1 known missense c.383 p.P128H 0.000 NULL NULL - no_errors CD177 HGNC ENSG00000204936 9 0 0 10 4 28.5714 IRGC 0 genome.wustl.edu 37 19 44223371 44223371 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 44223371 44223371 G A SNP IRGC ENST00000244314 human ensembl 74_37 +1 known missense c.661 p.A221T 0.000 pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 32 0 0 18 20 52.6316 CEACAM19 0 genome.wustl.edu 37 19 45175826 45175826 + RNA SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 45175826 45175826 G T SNP CEACAM19 ENST00000480278 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CEACAM19 HGNC ENSG00000186567 79 0 0 65 29 30.8511 SEMA6B 0 genome.wustl.edu 37 19 4556000 4556000 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 4556000 4556000 G A SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.471 p.S157 0.998 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 81 0 0 12 77 86.5169 ZC3H4 0 genome.wustl.edu 37 19 47569825 47569825 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 47569825 47569825 C T SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.3700 p.A1234T 0.055 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 15 0 0 8 8 50 DHX34 0 genome.wustl.edu 37 19 47870299 47870299 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 47870299 47870299 C T SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.1655 p.A552V 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 56 0 0 36 9 20 SLC8A2 0 genome.wustl.edu 37 19 47969508 47969508 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 47969508 47969508 C T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known silent c.153 p.P51 0.370 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 25 0 0 10 7 41.1765 EHD2 0 genome.wustl.edu 37 19 48220237 48220237 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 48220237 48220237 G A SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.368 p.R123H 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 80 0 0 51 20 28.169 CCDC114 0 genome.wustl.edu 37 19 48806955 48806955 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 48806955 48806955 G T SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.829 p.L277M 0.983 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 104 0 0 76 42 35.5932 GRIN2D 0 genome.wustl.edu 37 19 48946554 48946554 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 48946554 48946554 C T SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known missense c.3371 p.A1124V 0.981 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 24 0 0 13 6 31.5789 GRWD1 0 genome.wustl.edu 37 19 48954443 48954443 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 48954443 48954443 C T SNP GRWD1 ENST00000253237 human ensembl 74_37 +1 known silent c.978 p.G326 0.311 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GRWD1 HGNC ENSG00000105447 79 0 0 30 20 40 FUT2 0 genome.wustl.edu 37 19 49206867 49206867 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49206867 49206867 C T SNP FUT2 ENST00000391876 human ensembl 74_37 +1 known silent c.654 p.A218 0.009 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC ENSG00000176920 118 0 0 121 11 8.33333 IZUMO1 0 genome.wustl.edu 37 19 49247735 49247735 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49247735 49247735 G T SNP IZUMO1 ENST00000332955 human ensembl 74_37 -1 known silent c.372 p.T124 0.000 NULL NULL - no_errors IZUMO1 HGNC ENSG00000182264 68 0 0 52 26 33.3333 FUT1 0 genome.wustl.edu 37 19 49254455 49254455 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49254455 49254455 A G SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known silent c.84 p.H28 0.000 NULL pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 67 0 0 36 14 28 PPFIA3 0 genome.wustl.edu 37 19 49637338 49637338 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49637338 49637338 C T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known silent c.1293 p.S431 0.063 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 111 0 0 56 38 40.4255 HRC 0 genome.wustl.edu 37 19 49656860 49656860 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49656860 49656860 C T SNP HRC ENST00000252825 human ensembl 74_37 -1 known silent c.1635 p.E545 0.877 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 21 0 0 7 7 50 PTH2 0 genome.wustl.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49926533 49926533 G C SNP PTH2 ENST00000270631 human ensembl 74_37 -1 known missense c.64 p.L22V 0.132 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 21 0 0 19 16 45.7143 PRR12 0 genome.wustl.edu 37 19 50128756 50128756 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 50128756 50128756 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.6003 p.Q2001 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 15 0 0 14 9 39.1304 SCAF1 0 genome.wustl.edu 37 19 50155638 50155638 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 50155638 50155638 G A SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known silent c.1992 p.A664 0.000 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 10 0 0 7 5 41.6667 SCAF1 0 genome.wustl.edu 37 19 50155754 50155754 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 50155754 50155754 G A SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.2108 p.R703Q 1.000 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 22 0 0 10 7 41.1765 IZUMO2 0 genome.wustl.edu 37 19 50666366 50666366 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 50666366 50666366 A G SNP IZUMO2 ENST00000293405 human ensembl 74_37 -1 known missense c.86 p.L29P 0.000 NULL NULL - no_errors IZUMO2 HGNC ENSG00000161652 30 0 0 12 9 42.8571 KCNC3 0 genome.wustl.edu 37 19 50826646 50826646 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 50826646 50826646 G T SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known missense c.1564 p.L522M 0.963 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,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 85 0 0 43 24 35.8209 MYBPC2 0 genome.wustl.edu 37 19 50939882 50939882 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 50939882 50939882 C A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.354 p.T118 0.499 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 88 0 0 49 24 32.8767 SHANK1 0 genome.wustl.edu 37 19 51217127 51217127 + Silent SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 51217127 51217127 A T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.720 p.I240 0.798 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 65 0 0 52 10 16.129 KLK10 0 genome.wustl.edu 37 19 51520463 51520463 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 51520463 51520463 G A SNP KLK10 ENST00000309958 human ensembl 74_37 -1 known missense c.172 p.P58S 0.979 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 KLK10 HGNC ENSG00000129451 24 0 0 7 19 73.0769 ZNF836 0 genome.wustl.edu 37 19 52658574 52658574 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 52658574 52658574 G A SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known missense c.2362 p.R788C 0.190 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 ZNF836 HGNC ENSG00000196267 114 0 0 57 37 39.3617 ZNF766 0 genome.wustl.edu 37 19 52793713 52793713 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 52793713 52793713 C T SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known silent c.714 p.T238 0.077 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 ZNF766 HGNC ENSG00000196214 37 0 0 41 17 29.3103 ZNF480 0 genome.wustl.edu 37 19 52817449 52817449 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 52817449 52817449 C T SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.116 p.A39V 0.908 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 142 0 0 106 59 35.7576 ZNF816 0 genome.wustl.edu 37 19 53453156 53453156 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 53453156 53453156 A G SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known silent c.1872 p.N624 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 136 0 0 100 63 38.6503 NLRP12 0 genome.wustl.edu 37 19 54301519 54301519 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 54301519 54301519 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.2905 p.A969T 0.139 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 73 0 0 36 22 37.931 LILRA6 0 genome.wustl.edu 37 19 54742958 54742958 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 54742958 54742958 G A SNP LILRA6 ENST00000245621 human ensembl 74_37 -1 known silent c.1266 p.H422 0.000 pirsf_A1B_glyco/leuk_Ig-like_rcpt pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA6 HGNC ENSG00000244482 83 0 0 69 19 21.5909 LILRA3 0 genome.wustl.edu 37 19 54803262 54803262 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 54803262 54803262 C A SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known missense c.415 p.G139W 0.117 pirsf_A1B_glyco/leuk_Ig-like_rcpt pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 145 0 0 134 8 5.6338 LILRA1 0 genome.wustl.edu 37 19 55106616 55106616 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 55106616 55106616 C T SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known missense c.410 p.S137L 0.192 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 157 0 0 112 7 5.88235 NLRP2 0 genome.wustl.edu 37 19 55481624 55481624 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 55481624 55481624 C T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known nonsense c.241 p.R81* 0.012 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN 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 NLRP2 HGNC ENSG00000022556 71 0 0 41 24 36.9231 PTPRH 0 genome.wustl.edu 37 19 55693262 55693262 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 55693262 55693262 C T SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.3208 p.V1070I 0.978 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_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 89 0 0 66 47 41.5929 PTPRH 0 genome.wustl.edu 37 19 55696967 55696967 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 55696967 55696967 C T SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.2965 p.V989I 0.959 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt 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 57 0 0 23 13 36.1111 FIZ1 0 genome.wustl.edu 37 19 56104134 56104134 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 56104134 56104134 G A SNP FIZ1 ENST00000221665 human ensembl 74_37 -1 known silent c.1173 p.T391 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 47 0 0 23 14 37.8378 NLRP4 0 genome.wustl.edu 37 19 56390204 56390204 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 56390204 56390204 C T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.2741 p.A914V 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 45 0 0 18 13 41.9355 ZNF444 0 genome.wustl.edu 37 19 56671150 56671150 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 56671150 56671150 C A SNP ZNF444 ENST00000337080 human ensembl 74_37 +1 known silent c.564 p.S188 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF444 HGNC ENSG00000167685 10 0 0 4 4 50 ZNF256 0 genome.wustl.edu 37 19 58452730 58452730 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 58452730 58452730 C A SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known missense c.1446 p.W482C 0.004 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 ZNF256 HGNC ENSG00000152454 66 0 0 38 30 44.1176 ZNF497 0 genome.wustl.edu 37 19 58867745 58867745 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 58867745 58867745 G A SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known silent c.1257 p.C419 0.987 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 14 0 0 6 3 33.3333 ZNF324 0 genome.wustl.edu 37 19 58982407 58982407 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 58982407 58982407 C T SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.548 p.A183V 0.007 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 ZNF324 HGNC ENSG00000083812 58 0 0 20 21 51.2195 HCN2 0 genome.wustl.edu 37 19 608110 608110 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 608110 608110 C T SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known silent c.1365 p.Y455 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 88 0 0 24 64 72.7273 INSR 0 genome.wustl.edu 37 19 7143042 7143042 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 7143042 7143042 G A SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.2327 p.T776M 0.878 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 51 0 0 40 23 36.5079 INSR 0 genome.wustl.edu 37 19 7170609 7170609 + Silent SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 7170609 7170609 T A SNP INSR ENST00000302850 human ensembl 74_37 -1 known silent c.1422 p.G474 0.978 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 201 0 0 200 12 5.66038 ZNF358 0 genome.wustl.edu 37 19 7585043 7585043 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 7585043 7585043 G A SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known silent c.915 p.A305 0.992 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 55 0 0 8 32 80 LRRC8E 0 genome.wustl.edu 37 19 7963631 7963631 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 7963631 7963631 G A SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.224 p.R75Q 0.131 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 153 0 0 20 115 85.1852 ADAMTS10 0 genome.wustl.edu 37 19 8651494 8651494 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 8651494 8651494 T C SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.2351 p.Q784R 0.980 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 103 0 0 18 69 79.3103 MED16 0 genome.wustl.edu 37 19 871999 871999 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 871999 871999 C T SNP MED16 ENST00000325464 human ensembl 74_37 -1 known silent c.2025 p.V675 0.989 pfam_Mediator_Med16 pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 55 0 0 29 17 36.9565 MUC16 0 genome.wustl.edu 37 19 9083880 9083880 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 9083880 9083880 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.7935 p.P2645 0.025 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 38 0 0 25 10 28.5714 OR1M1 0 genome.wustl.edu 37 19 9204168 9204168 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 9204168 9204168 T C SNP OR1M1 ENST00000429566 human ensembl 74_37 +1 known missense c.248 p.V83A 0.174 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1M1 HGNC ENSG00000170929 63 0 0 21 38 64.4068 REV1 0 genome.wustl.edu 37 2 100058920 100058920 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 100058920 100058920 C T SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.362 p.G121E 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 65 0 0 41 26 38.806 AFF3 0 genome.wustl.edu 37 2 100266104 100266104 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 100266104 100266104 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.1243 p.R415C 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 91 0 0 60 44 42.3077 PDCL3 0 genome.wustl.edu 37 2 101192912 101192912 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 101192912 101192912 G A SNP PDCL3 ENST00000264254 human ensembl 74_37 +1 known missense c.674 p.R225Q 0.996 NULL pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Antitoxin_Phd/YefM - no_errors PDCL3 HGNC ENSG00000115539 54 0 0 28 24 46.1538 RNF149 0 genome.wustl.edu 37 2 101924991 101924991 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 101924991 101924991 C T SNP RNF149 ENST00000295317 human ensembl 74_37 -1 known silent c.60 p.L20 0.807 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ENSG00000163162 19 0 0 11 10 47.619 IL1R2 0 genome.wustl.edu 37 2 102641036 102641036 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 102641036 102641036 G A SNP IL1R2 ENST00000332549 human ensembl 74_37 +1 known missense c.793 p.G265S 0.001 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 37 0 0 32 15 31.9149 RGPD4 0 genome.wustl.edu 37 2 108489198 108489198 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 108489198 108489198 A C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.4738 p.S1580R 0.998 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 269 0 0 193 126 39.4984 SULT1C2P1 0 genome.wustl.edu 37 2 108938844 108938844 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 108938844 108938844 C T SNP SULT1C2P1 ENST00000427208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SULT1C2P1 HGNC ENSG00000237223 44 0 0 26 17 39.5349 RANBP2 0 genome.wustl.edu 37 2 109381658 109381658 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 109381658 109381658 C T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known nonsense c.4663 p.R1555* 0.002 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 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 202 1 0.492611 122 80 39.604 SH3RF3 0 genome.wustl.edu 37 2 110015252 110015252 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 110015252 110015252 G A SNP SH3RF3 ENST00000309415 human ensembl 74_37 +1 known silent c.1152 p.A384 0.468 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain,pfscan_Znf_RING - no_errors SH3RF3 HGNC ENSG00000172985 31 0 0 15 13 46.4286 ROCK2 0 genome.wustl.edu 37 2 11359113 11359113 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 11359113 11359113 G T SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known silent c.1299 p.S433 0.021 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 41 0 0 24 18 42.8571 MYO7B 0 genome.wustl.edu 37 2 128394393 128394393 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 128394393 128394393 A G SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.6157 p.T2053A 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 113 0 0 19 28 59.5745 HS6ST1 0 genome.wustl.edu 37 2 129026306 129026306 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 129026306 129026306 C T SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known silent c.666 p.P222 0.154 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 143 0 0 59 32 35.1648 C2orf27A 0 genome.wustl.edu 37 2 132491526 132491526 + Splice_Site SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 132491526 132491526 G A SNP C2orf27A ENST00000463645 human ensembl 74_37 +1 putative splice_site c.NULL NULL 1.000 - - - no_errors C2orf27A HGNC ENSG00000197927 27 0 0 16 16 50 LCT 0 genome.wustl.edu 37 2 136547367 136547367 + Silent SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 136547367 136547367 A C SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.5337 p.A1779 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 85 0 0 59 23 28.0488 GTDC1 0 genome.wustl.edu 37 2 144899478 144899478 + Nonsense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 144899478 144899478 G T SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known nonsense c.492 p.Y164* 1.000 pfam_GlycosylTrfase_1_N pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 71 0 0 52 27 34.1772 DDX1 0 genome.wustl.edu 37 2 15760382 15760382 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 15760382 15760382 C T SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known silent c.1257 p.S419 0.096 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 123 0 0 65 30 31.5789 CCDC148 0 genome.wustl.edu 37 2 159077162 159077162 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 159077162 159077162 G A SNP CCDC148 ENST00000283233 human ensembl 74_37 -1 known missense c.1315 p.R439C 1.000 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 27 0 0 15 10 40 TANC1 0 genome.wustl.edu 37 2 160080864 160080864 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 160080864 160080864 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.3800 p.G1267E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 67 0 0 30 18 37.5 LY75 0 genome.wustl.edu 37 2 160667123 160667123 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 160667123 160667123 C T SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.4613 p.R1538Q 0.996 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 207 0 0 134 66 33 PXDN 0 genome.wustl.edu 37 2 1652064 1652064 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 1652064 1652064 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3488 p.R1163Q 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 130 1 0.763359 75 39 34.2105 SCN1A 0 genome.wustl.edu 37 2 166908335 166908335 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 166908335 166908335 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.858 p.S286 0.406 pfam_Ion_trans_dom,prints_Na_channel_a1su pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 58 0 0 34 22 39.2857 FASTKD1 0 genome.wustl.edu 37 2 170393848 170393848 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 170393848 170393848 T C SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known missense c.2077 p.I693V 0.015 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 85 0 0 93 5 5.10204 CYBRD1 0 genome.wustl.edu 37 2 172379172 172379172 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 172379172 172379172 C T SNP CYBRD1 ENST00000321348 human ensembl 74_37 +1 known silent c.117 p.G39 1.000 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYBRD1 HGNC ENSG00000071967 41 0 0 31 11 26.1905 ATF2 0 genome.wustl.edu 37 2 175962206 175962206 + Nonsense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 175962206 175962206 A T SNP ATF2 ENST00000264110 human ensembl 74_37 -1 known nonsense c.944 p.L315* 0.884 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF2 HGNC ENSG00000115966 114 0 0 85 42 33.0709 EVX2 0 genome.wustl.edu 37 2 176947159 176947159 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 176947159 176947159 G A SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.446 p.S149L 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 66 0 0 30 22 42.3077 HOXD4 0 genome.wustl.edu 37 2 177017378 177017378 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 177017378 177017378 C T SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known missense c.476 p.T159M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_antennapedia pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXD4 HGNC ENSG00000170166 81 0 0 47 23 32.8571 HOXD3 0 genome.wustl.edu 37 2 177036848 177036848 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 177036848 177036848 C T SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known missense c.1145 p.P382L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 43 0 0 20 12 37.5 HOXD1 0 genome.wustl.edu 37 2 177054164 177054164 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 177054164 177054164 G T SNP HOXD1 ENST00000331462 human ensembl 74_37 +1 known missense c.635 p.R212M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD1 HGNC ENSG00000128645 50 0 0 33 11 25 TTC30B 0 genome.wustl.edu 37 2 178416830 178416830 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 178416830 178416830 T C SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known missense c.662 p.Q221R 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 73 0 0 49 20 28.9855 SMC6 0 genome.wustl.edu 37 2 17899380 17899380 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 17899380 17899380 A G SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known silent c.1134 p.D378 0.312 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 129 0 0 79 44 35.7724 TTN 0 genome.wustl.edu 37 2 179396497 179396497 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 179396497 179396497 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.97141 p.R32381C 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 78 0 0 48 30 38.4615 TTN 0 genome.wustl.edu 37 2 179436014 179436014 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 179436014 179436014 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.67141 p.E22381K 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 118 0 0 64 32 33.3333 TTN 0 genome.wustl.edu 37 2 179454179 179454179 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 179454179 179454179 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.54569 p.E18190V 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 55 0 0 25 17 40.4762 TTN 0 genome.wustl.edu 37 2 179463736 179463736 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 179463736 179463736 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.48997 p.M16333V 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 33 0 0 18 17 48.5714 TTN 0 genome.wustl.edu 37 2 179527138 179527138 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 179527138 179527138 T G SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.36966 p.E12322D 0.007 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 57 0 0 46 18 28.125 ENSG00000267784 0 genome.wustl.edu 37 2 179591754 179591754 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 179591754 179591754 C T SNP ENSG00000267784 ENST00000590024 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-171I2.1 Clone_based_vega_gene ENSG00000267784 45 0 0 32 11 25.5814 MYT1L 0 genome.wustl.edu 37 2 1796190 1796190 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 1796190 1796190 T C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.3323 p.K1108R 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 29 0 0 19 7 26.9231 ZNF385B 0 genome.wustl.edu 37 2 180348060 180348060 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 180348060 180348060 G A SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known silent c.609 p.S203 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 54 0 0 31 21 40.3846 KCNS3 0 genome.wustl.edu 37 2 18112465 18112465 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 18112465 18112465 G T SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.190 p.D64Y 0.996 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 102 0 0 62 51 45.1327 ZNF804A 0 genome.wustl.edu 37 2 185801480 185801480 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 185801480 185801480 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1357 p.I453L 0.993 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 86 0 0 61 41 40.1961 FAM171B 0 genome.wustl.edu 37 2 187626790 187626790 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 187626790 187626790 T C SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.1721 p.M574T 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 68 0 0 39 28 41.791 ENSG00000231689 0 genome.wustl.edu 37 2 189093057 189093057 + RNA SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 189093057 189093057 A C SNP ENSG00000231689 ENST00000415357 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors AC068718.1 Clone_based_vega_gene ENSG00000231689 18 0 0 7 12 63.1579 DNAH7 0 genome.wustl.edu 37 2 196852767 196852767 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 196852767 196852767 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.1540 p.A514T 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 43 0 0 18 22 55 GTF3C3 0 genome.wustl.edu 37 2 197636558 197636558 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 197636558 197636558 A G SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.2174 p.L725S 0.782 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 79 0 0 36 35 49.2958 MARS2 0 genome.wustl.edu 37 2 198571099 198571099 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 198571099 198571099 C A SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known missense c.970 p.L324M 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 184 0 0 125 76 37.8109 SATB2 0 genome.wustl.edu 37 2 200137060 200137060 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 200137060 200137060 C A SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.2076 p.E692D 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 103 0 0 76 40 34.4828 TMEM237 0 genome.wustl.edu 37 2 202488987 202488987 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 202488987 202488987 G A SNP TMEM237 ENST00000409883 human ensembl 74_37 -1 known silent c.1218 p.A406 0.046 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 44 0 0 26 11 29.7297 INO80D 0 genome.wustl.edu 37 2 206872047 206872047 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 206872047 206872047 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.1879 p.R627W 0.991 NULL NULL - no_errors INO80D HGNC ENSG00000114933 62 0 0 61 6 8.95522 MDH1B 0 genome.wustl.edu 37 2 207611098 207611098 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 207611098 207611098 C A SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.1269 p.E423D 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 49 0 0 31 13 29.5455 CRYGC 0 genome.wustl.edu 37 2 208993062 208993062 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 208993062 208993062 G A SNP CRYGC ENST00000282141 human ensembl 74_37 -1 known silent c.390 p.C130 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 79 0 0 47 23 32.8571 CRYGB 0 genome.wustl.edu 37 2 209010699 209010699 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 209010699 209010699 G A SNP CRYGB ENST00000260988 human ensembl 74_37 -1 known silent c.51 p.Y17 0.982 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin - no_errors CRYGB HGNC ENSG00000182187 77 0 0 59 35 37.234 MAP2 0 genome.wustl.edu 37 2 210560785 210560785 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 210560785 210560785 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.3891 p.T1297 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 114 0 0 77 43 35.8333 CPS1 0 genome.wustl.edu 37 2 211464228 211464228 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 211464228 211464228 G A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1510 p.A504T 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 108 0 0 67 43 39.0909 APOB 0 genome.wustl.edu 37 2 21232207 21232207 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 21232207 21232207 T C SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.7533 p.K2511 0.006 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 80 0 0 44 34 43.5897 ATIC 0 genome.wustl.edu 37 2 216209520 216209520 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 216209520 216209520 C T SNP ATIC ENST00000236959 human ensembl 74_37 +1 known nonsense c.1246 p.R416* 1.000 pfam_AICARFT_IMPCHas,superfamily_Cytidine_deaminase-like,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 48 0 0 29 24 45.283 FN1 0 genome.wustl.edu 37 2 216286852 216286852 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 216286852 216286852 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.1508 p.R503H 1.000 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 117 0 0 79 47 37.3016 SMARCAL1 0 genome.wustl.edu 37 2 217285119 217285119 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 217285119 217285119 C T SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known silent c.960 p.A320 0.000 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 58 0 0 29 20 40.8163 SMARCAL1 0 genome.wustl.edu 37 2 217315647 217315647 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 217315647 217315647 C T SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.1930 p.R644W 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 73 0 0 58 26 30.9524 USP37 0 genome.wustl.edu 37 2 219362579 219362579 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 219362579 219362579 G A SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.1159 p.R387C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 62 0 0 43 32 42.6667 RNF25 0 genome.wustl.edu 37 2 219529162 219529162 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 219529162 219529162 C T SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known missense c.898 p.V300I 0.005 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 113 1 0.877193 63 27 30 ASIC4 0 genome.wustl.edu 37 2 220400033 220400033 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 220400033 220400033 G A SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known missense c.1540 p.E514K 0.999 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 17 0 0 10 6 37.5 SLC4A3 0 genome.wustl.edu 37 2 220495067 220495067 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 220495067 220495067 C T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known silent c.885 p.D295 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 70 0 0 35 15 30 CCL20 0 genome.wustl.edu 37 2 228681853 228681853 + RNA SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 228681853 228681853 C A SNP CCL20 ENST00000473642 human ensembl 74_37 +1 known rna NULL NULL 0.101 - - - no_errors CCL20 HGNC ENSG00000115009 53 0 0 33 29 46.7742 SPHKAP 0 genome.wustl.edu 37 2 228881735 228881735 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 228881735 228881735 T C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.3835 p.S1279G 0.002 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 84 0 0 50 28 35.8974 ARMC9 0 genome.wustl.edu 37 2 232079734 232079734 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 232079734 232079734 C T SNP ARMC9 ENST00000469789 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARMC9 HGNC ENSG00000135931 35 0 0 20 15 42.8571 ALPPL2 0 genome.wustl.edu 37 2 233272672 233272672 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 233272672 233272672 G A SNP ALPPL2 ENST00000295453 human ensembl 74_37 +1 known missense c.593 p.R198H 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 159 0 0 80 43 34.9593 EFHD1 0 genome.wustl.edu 37 2 233546345 233546345 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 233546345 233546345 G T SNP EFHD1 ENST00000264059 human ensembl 74_37 +1 known missense c.636 p.E212D 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD1 HGNC ENSG00000115468 130 0 0 85 56 39.7163 UGT1A4 0 genome.wustl.edu 37 2 234681073 234681073 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 234681073 234681073 C T SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known silent c.1473 p.D491 0.282 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 138 0 0 85 50 37.037 AGAP1 0 genome.wustl.edu 37 2 237028996 237028996 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 237028996 237028996 G A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.2275 p.E759K 0.994 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 92 0 0 63 24 27.5862 ESPNL 0 genome.wustl.edu 37 2 239013386 239013386 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 239013386 239013386 A C SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.575 p.K192T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 18 0 0 12 3 20 HDAC4 0 genome.wustl.edu 37 2 240056118 240056118 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 240056118 240056118 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.1117 p.A373T 0.362 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 22 0 0 15 4 21.0526 KIF1A 0 genome.wustl.edu 37 2 241658494 241658494 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 241658494 241658494 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.5143 p.V1715M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 135 0 0 59 43 42.1569 PASK 0 genome.wustl.edu 37 2 242066771 242066771 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 242066771 242066771 A G SNP PASK ENST00000358649 human ensembl 74_37 -1 known missense c.1559 p.V520A 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 172 0 0 96 62 39.2405 HDLBP 0 genome.wustl.edu 37 2 242196109 242196109 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 242196109 242196109 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.563 p.R188H 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 115 0 0 61 45 42.4528 ASXL2 0 genome.wustl.edu 37 2 26101090 26101090 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 26101090 26101090 A G SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 156 0 0 92 49 34.7518 C2orf53 0 genome.wustl.edu 37 2 27360918 27360918 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 27360918 27360918 A G SNP C2orf53 ENST00000335524 human ensembl 74_37 -1 known missense c.280 p.S94P 0.025 NULL NULL - no_errors C2orf53 HGNC ENSG00000186143 32 0 0 25 11 30.5556 SNX17 0 genome.wustl.edu 37 2 27597016 27597016 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 27597016 27597016 G A SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known missense c.497 p.R166Q 1.000 pfscan_Ras-assoc pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 93 0 0 60 35 36.8421 FOSL2 0 genome.wustl.edu 37 2 28627027 28627027 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 28627027 28627027 C T SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known silent c.156 p.N52 1.000 prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 82 0 0 87 10 10.3093 EHD3 0 genome.wustl.edu 37 2 31483572 31483572 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 31483572 31483572 C T SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known silent c.699 p.Y233 0.987 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 60 0 0 26 40 60.6061 MEMO1 0 genome.wustl.edu 37 2 32093439 32093439 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 32093439 32093439 C T SNP MEMO1 ENST00000379383 human ensembl 74_37 -1 known silent c.894 p.T298 0.950 NULL pfam_MEMO1_fam - no_errors MEMO1 HGNC ENSG00000162959 18 0 0 15 7 31.8182 NLRC4 0 genome.wustl.edu 37 2 32460605 32460605 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 32460605 32460605 C T SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.2647 p.A883T 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 62 0 0 81 6 6.89655 BIRC6 0 genome.wustl.edu 37 2 32626547 32626547 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 32626547 32626547 A T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.1274 p.E425V 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 88 0 0 50 20 28.5714 FAM98A 0 genome.wustl.edu 37 2 33813510 33813510 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 33813510 33813510 G A SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known silent c.414 p.G138 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 86 0 0 64 44 40.7407 RPS7 0 genome.wustl.edu 37 2 3628430 3628430 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 3628430 3628430 G A SNP RPS7 ENST00000304921 human ensembl 74_37 +1 known silent c.543 p.T181 0.744 pfam_Ribosomal_S7e pfam_Ribosomal_S7e - no_errors RPS7 HGNC ENSG00000171863 39 0 0 23 16 41.0256 CRIM1 0 genome.wustl.edu 37 2 36739444 36739444 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 36739444 36739444 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.1687 p.R563C 1.000 pfam_Antistasin-like,superfamily_Hirudin/antistatin pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 157 1 0.632911 91 61 40.1316 COLEC11 0 genome.wustl.edu 37 2 3691383 3691383 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 3691383 3691383 C T SNP COLEC11 ENST00000418971 human ensembl 74_37 +1 known missense c.533 p.A178V 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 79 0 0 46 26 36.1111 PKDCC 0 genome.wustl.edu 37 2 42282160 42282160 + Nonsense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 42282160 42282160 G T SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known nonsense c.1114 p.G372* 1.000 pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 129 0 0 76 34 30.9091 MTA3 0 genome.wustl.edu 37 2 42909709 42909709 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 42909709 42909709 A G SNP MTA3 ENST00000405094 human ensembl 74_37 +1 known missense c.871 p.N291D 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA3 HGNC ENSG00000057935 25 0 0 5 10 66.6667 FAM110C 0 genome.wustl.edu 37 2 45589 45589 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 45589 45589 C T SNP FAM110C ENST00000327669 human ensembl 74_37 -1 known missense c.797 p.G266D 0.471 NULL NULL - no_errors FAM110C HGNC ENSG00000184731 32 0 0 18 13 41.9355 PRKCE 0 genome.wustl.edu 37 2 46313362 46313362 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 46313362 46313362 G A SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.1453 p.V485I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 113 0 0 82 44 34.9206 EPAS1 0 genome.wustl.edu 37 2 46605204 46605204 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 46605204 46605204 G C SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known missense c.1421 p.S474T 0.994 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 18 0 0 1 8 88.8889 TSPYL6 0 genome.wustl.edu 37 2 54482354 54482354 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 54482354 54482354 A G SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.935 p.V312A 0.979 pfam_NAP_family pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 103 0 0 59 43 42.1569 BCL11A 0 genome.wustl.edu 37 2 60688652 60688652 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 60688652 60688652 G T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known silent c.1395 p.S465 0.360 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 47 0 0 22 16 42.1053 BCL11A 0 genome.wustl.edu 37 2 60688858 60688858 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 60688858 60688858 G A SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1189 p.R397C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 126 0 0 85 54 38.8489 USP34 0 genome.wustl.edu 37 2 61552563 61552563 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 61552563 61552563 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.2960 p.R987H 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 44 0 0 33 11 25 UGP2 0 genome.wustl.edu 37 2 64085069 64085069 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 64085069 64085069 C T SNP UGP2 ENST00000337130 human ensembl 74_37 +1 known missense c.254 p.S85L 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 117 0 0 89 44 33.0827 MEIS1 0 genome.wustl.edu 37 2 66667042 66667042 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 66667042 66667042 G A SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.307 p.E103K 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 29 0 0 14 6 30 MEIS1 0 genome.wustl.edu 37 2 66775109 66775109 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 66775109 66775109 T C SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.923 p.L308S 1.000 pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 63 0 0 52 19 26.7606 GMCL1 0 genome.wustl.edu 37 2 70096881 70096881 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 70096881 70096881 G A SNP GMCL1 ENST00000282570 human ensembl 74_37 +1 known missense c.1249 p.G417S 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors GMCL1 HGNC ENSG00000087338 75 0 0 53 35 39.7727 MXD1 0 genome.wustl.edu 37 2 70164383 70164383 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 70164383 70164383 A G SNP MXD1 ENST00000264444 human ensembl 74_37 +1 known missense c.335 p.D112G 1.000 superfamily_bHLH_dom,smart_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD1 HGNC ENSG00000059728 142 0 0 76 68 47.2222 TIA1 0 genome.wustl.edu 37 2 70454867 70454867 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 70454867 70454867 G A SNP TIA1 ENST00000433529 human ensembl 74_37 -1 known missense c.398 p.S133L 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 75 0 0 56 31 35.6322 ZNF638 0 genome.wustl.edu 37 2 71658542 71658542 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 71658542 71658542 G A SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known silent c.5736 p.A1912 0.004 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 46 0 0 36 24 40 DYSF 0 genome.wustl.edu 37 2 71801427 71801427 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 71801427 71801427 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3367 p.R1123C 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 193 1 0.515464 106 70 39.7727 TET3 0 genome.wustl.edu 37 2 74274599 74274599 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 74274599 74274599 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.1150 p.D384N 0.240 NULL NULL - no_errors TET3 HGNC ENSG00000187605 33 0 0 17 15 46.875 TET3 0 genome.wustl.edu 37 2 74328868 74328868 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 74328868 74328868 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.4548 p.I1516 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 124 0 0 52 32 38.0952 SLC4A5 0 genome.wustl.edu 37 2 74491388 74491388 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 74491388 74491388 G A SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known missense c.601 p.R201W 0.043 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,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 SLC4A5 HGNC ENSG00000188687 61 0 0 39 38 49.3506 DCTN1 0 genome.wustl.edu 37 2 74589792 74589792 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 74589792 74589792 G A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known silent c.3594 p.T1198 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 32 0 0 18 12 40 LRRTM4 0 genome.wustl.edu 37 2 77745718 77745718 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 77745718 77745718 A G SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.1280 p.I427T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 72 0 0 47 26 35.6164 TCF7L1 0 genome.wustl.edu 37 2 85533374 85533374 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 85533374 85533374 C T SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known silent c.1035 p.H345 0.482 superfamily_HMG_box_dom,smart_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 60 0 0 30 19 38.7755 VAMP5 0 genome.wustl.edu 37 2 85818963 85818963 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 85818963 85818963 G A SNP VAMP5 ENST00000306384 human ensembl 74_37 +1 known missense c.119 p.R40H 1.000 pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin,pfscan_Synaptobrevin pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin,pfscan_Synaptobrevin - no_errors VAMP5 HGNC ENSG00000168899 138 0 0 67 55 45.082 SFTPB 0 genome.wustl.edu 37 2 85892896 85892896 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 85892896 85892896 G A SNP SFTPB ENST00000393822 human ensembl 74_37 -1 known missense c.451 p.H151Y 0.000 pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB,prints_Saposin pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 62 0 0 48 31 39.2405 KDM3A 0 genome.wustl.edu 37 2 86676934 86676934 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 86676934 86676934 G A SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.191 p.C64Y 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 74 0 0 56 28 33.3333 ENSG00000240040 0 genome.wustl.edu 37 2 89111172 89111172 + RNA SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 89111172 89111172 T C SNP ENSG00000240040 ENST00000452230 human ensembl 74_37 -1 known rna NULL NULL 0.961 - - - no_errors AC096579.13 Clone_based_vega_gene ENSG00000240040 51 0 0 23 10 30.303 ANKRD23 0 genome.wustl.edu 37 2 97506239 97506239 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 97506239 97506239 C T SNP ANKRD23 ENST00000318357 human ensembl 74_37 -1 known missense c.439 p.A147T 0.996 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 ANKRD23 HGNC ENSG00000163126 45 0 0 30 11 26.8293 JAG1 0 genome.wustl.edu 37 20 10629262 10629262 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 10629262 10629262 A G SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.1504 p.C502R 1.000 pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 54 0 0 25 16 39.0244 ISM1 0 genome.wustl.edu 37 20 13279773 13279773 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 13279773 13279773 C T SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known silent c.1062 p.P354 0.999 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 24 0 0 16 5 23.8095 NINL 0 genome.wustl.edu 37 20 25442243 25442243 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 25442243 25442243 T C SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.3611 p.E1204G 0.996 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 65 0 0 32 27 45.7627 DEFB118 0 genome.wustl.edu 37 20 29960908 29960908 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 29960908 29960908 G T SNP DEFB118 ENST00000253381 human ensembl 74_37 +1 known missense c.307 p.V103F 0.000 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 75 0 0 33 33 50 SNTA1 0 genome.wustl.edu 37 20 32000508 32000508 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 32000508 32000508 G A SNP SNTA1 ENST00000217381 human ensembl 74_37 -1 known missense c.782 p.A261V 0.868 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 31 0 0 24 27 52.9412 SLC4A11 0 genome.wustl.edu 37 20 3211445 3211445 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 3211445 3211445 G A SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known silent c.1344 p.Y448 0.919 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 70 0 0 39 21 35 CEP250 0 genome.wustl.edu 37 20 34092805 34092805 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 34092805 34092805 A C SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.6608 p.E2203A 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 32 0 0 23 10 30.303 DLGAP4 0 genome.wustl.edu 37 20 35127677 35127677 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 35127677 35127677 G A SNP DLGAP4 ENST00000373913 human ensembl 74_37 +1 known silent c.2043 p.S681 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 56 0 0 33 25 43.1034 SOGA1 0 genome.wustl.edu 37 20 35444560 35444560 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 35444560 35444560 C T SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.1285 p.A429T 0.943 pfam_SOGA pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 59 0 0 41 21 33.871 CTNNBL1 0 genome.wustl.edu 37 20 36470697 36470697 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 36470697 36470697 G A SNP CTNNBL1 ENST00000472237 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CTNNBL1 HGNC ENSG00000132792 21 0 0 18 10 35.7143 TTI1 0 genome.wustl.edu 37 20 36640541 36640541 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 36640541 36640541 T C SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.1678 p.I560V 0.126 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 151 0 0 102 80 43.956 PPP1R16B 0 genome.wustl.edu 37 20 37536791 37536791 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 37536791 37536791 C T SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known silent c.1149 p.N383 0.107 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 77 0 0 40 23 36.5079 CHD6 0 genome.wustl.edu 37 20 40045241 40045241 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 40045241 40045241 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.6473 p.A2158V 0.632 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 118 0 0 82 50 37.8788 PABPC1L 0 genome.wustl.edu 37 20 43545401 43545401 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 43545401 43545401 C T SNP PABPC1L ENST00000217073 human ensembl 74_37 +1 known missense c.392 p.A131V 0.980 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 197 0 0 115 55 32.3529 SPATA25 0 genome.wustl.edu 37 20 44515246 44515246 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 44515246 44515246 C T SNP SPATA25 ENST00000372519 human ensembl 74_37 -1 known silent c.594 p.A198 0.000 NULL NULL - no_errors SPATA25 HGNC ENSG00000149634 126 0 0 59 45 43.2692 CTSA 0 genome.wustl.edu 37 20 44527008 44527008 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 44527008 44527008 C T SNP CTSA ENST00000372484 human ensembl 74_37 +1 known silent c.1416 p.G472 0.357 pfam_Peptidase_S10,prints_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 32 0 0 17 8 32 MMP9 0 genome.wustl.edu 37 20 44639150 44639150 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 44639150 44639150 C T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.400 p.R134W 0.636 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 68 0 0 37 26 41.2698 MMP9 0 genome.wustl.edu 37 20 44641102 44641102 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 44641102 44641102 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1211 p.G404D 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 84 0 0 56 31 35.6322 SLC12A5 0 genome.wustl.edu 37 20 44669091 44669091 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 44669091 44669091 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.761 p.R254H 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 70 0 0 42 29 40.8451 SLC12A5 0 genome.wustl.edu 37 20 44671923 44671923 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 44671923 44671923 T G SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.1267 p.F423V 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 291 0 0 128 113 46.888 ELMO2 0 genome.wustl.edu 37 20 44997547 44997547 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 44997547 44997547 C T SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.1981 p.A661T 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 155 0 0 95 41 30.1471 ELMO2 0 genome.wustl.edu 37 20 45017707 45017707 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 45017707 45017707 G T SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known silent c.396 p.L132 0.178 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 93 0 0 43 25 36.7647 SLC2A10 0 genome.wustl.edu 37 20 45354006 45354006 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 45354006 45354006 G A SNP SLC2A10 ENST00000359271 human ensembl 74_37 +1 known missense c.331 p.A111T 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 103 0 0 54 35 39.3258 SULF2 0 genome.wustl.edu 37 20 46295140 46295140 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 46295140 46295140 C T SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known missense c.1669 p.A557T 0.002 pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 110 0 0 68 36 34.6154 SULF2 0 genome.wustl.edu 37 20 46307454 46307454 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 46307454 46307454 G T SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known missense c.1159 p.L387I 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 201 0 0 137 60 30.4569 ARFGEF2 0 genome.wustl.edu 37 20 47605105 47605105 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 47605105 47605105 G T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.2439 p.E813D 0.871 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 95 0 0 47 38 44.7059 SLC9A8 0 genome.wustl.edu 37 20 48472053 48472053 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 48472053 48472053 C T SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known silent c.696 p.P232 0.001 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 114 0 0 55 37 40.2174 PTPN1 0 genome.wustl.edu 37 20 49196318 49196318 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 49196318 49196318 C T SNP PTPN1 ENST00000371621 human ensembl 74_37 +1 known nonsense c.943 p.R315* 0.980 pirsf_Ptpn1/Ptpn2 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 120 0 0 61 37 37.7551 RTFDC1 0 genome.wustl.edu 37 20 55093208 55093208 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 55093208 55093208 G A SNP RTFDC1 ENST00000357348 human ensembl 74_37 +1 known missense c.898 p.A300T 0.982 pfam_Rtf2_RING-finger pfam_Rtf2_RING-finger - no_errors RTFDC1 HGNC ENSG00000022277 77 0 0 52 33 38.8235 STX16-NPEPL1 0 genome.wustl.edu 37 20 57246273 57246273 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 57246273 57246273 C T SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known nonsense c.712 p.R238* 1.000 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 100 0 0 55 41 42.7083 GNAS 0 genome.wustl.edu 37 20 57485424 57485424 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 57485424 57485424 C T SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.1009 p.R337W 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 82 0 0 37 17 31.4815 SLMO2 0 genome.wustl.edu 37 20 57612316 57612316 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 57612316 57612316 G A SNP SLMO2 ENST00000355937 human ensembl 74_37 -1 known missense c.221 p.T74M 1.000 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors SLMO2 HGNC ENSG00000101166 29 0 0 13 8 38.0952 ZNF831 0 genome.wustl.edu 37 20 57766438 57766438 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 57766438 57766438 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.364 p.P122S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 49 0 0 26 14 35 LAMA5 0 genome.wustl.edu 37 20 60887229 60887229 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 60887229 60887229 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.9504 p.P3168 0.968 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 13 0 0 5 6 54.5455 BHLHE23 0 genome.wustl.edu 37 20 61637728 61637728 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 61637728 61637728 G A SNP BHLHE23 ENST00000370346 human ensembl 74_37 -1 known silent c.351 p.N117 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE23 HGNC ENSG00000125533 29 0 0 9 14 60.8696 COL20A1 0 genome.wustl.edu 37 20 61941805 61941805 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 61941805 61941805 G A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.1336 p.V446M 0.801 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 22 0 0 12 7 36.8421 CHRNA4 0 genome.wustl.edu 37 20 61981737 61981737 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 61981737 61981737 G T SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known silent c.1026 p.T342 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 69 0 0 75 4 5.06329 DNAJC5 0 genome.wustl.edu 37 20 62560719 62560719 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 62560719 62560719 G A SNP DNAJC5 ENST00000360864 human ensembl 74_37 +1 known silent c.162 p.A54 0.993 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5 HGNC ENSG00000101152 48 0 0 31 25 44.6429 UCKL1 0 genome.wustl.edu 37 20 62571561 62571561 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 62571561 62571561 G A SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known silent c.1509 p.I503 1.000 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 56 0 0 30 17 36.1702 ZNF512B 0 genome.wustl.edu 37 20 62597786 62597786 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 62597786 62597786 C T SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.742 p.V248I 0.089 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 497 0 0 248 120 32.6087 DEFB125 0 genome.wustl.edu 37 20 76799 76799 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 76799 76799 C T SNP DEFB125 ENST00000382410 human ensembl 74_37 +1 known missense c.212 p.P71L 0.000 NULL NULL - no_errors DEFB125 HGNC ENSG00000178591 167 0 0 108 57 34.5455 TPTE 0 genome.wustl.edu 37 21 10951271 10951271 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 10951271 10951271 T C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.441 p.V147 0.982 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 88 0 0 66 15 18.5185 TPTE 0 genome.wustl.edu 37 21 10996060 10996060 + RNA SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 10996060 10996060 G T SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors TPTE HGNC ENSG00000166157 58 0 0 38 12 24 GABPA 0 genome.wustl.edu 37 21 27137032 27137032 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 27137032 27137032 C T SNP GABPA ENST00000354828 human ensembl 74_37 +1 known missense c.1070 p.A357V 1.000 pfam_Ets_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom pfam_GABP_asu_N,pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom - no_errors GABPA HGNC ENSG00000154727 79 0 0 67 34 33.6634 SYNJ1 0 genome.wustl.edu 37 21 34058147 34058147 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 34058147 34058147 C A SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.1146 p.K382N 0.436 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 75 0 0 70 4 5.40541 KCNJ6 0 genome.wustl.edu 37 21 38997730 38997730 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 38997730 38997730 G A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.1003 p.R335W 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 62 0 0 39 19 32.7586 BRWD1 0 genome.wustl.edu 37 21 40627704 40627704 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 40627704 40627704 G A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.2122 p.R708C 0.973 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 59 0 0 44 20 31.25 ABCG1 0 genome.wustl.edu 37 21 43702507 43702507 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 43702507 43702507 A G SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.1150 p.M384V 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,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 46 0 0 41 24 36.9231 TRPM2 0 genome.wustl.edu 37 21 45784127 45784127 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 45784127 45784127 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.385 p.D129N 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 94 0 0 60 24 28.5714 TRPM2 0 genome.wustl.edu 37 21 45833790 45833790 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 45833790 45833790 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.2979 p.P993 0.004 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 231 0 0 134 89 39.9103 TSPEAR 0 genome.wustl.edu 37 21 45924736 45924736 + Nonsense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 45924736 45924736 C A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known nonsense c.1783 p.G595* 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 82 0 0 44 24 35.2941 TSPEAR 0 genome.wustl.edu 37 21 45947323 45947323 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 45947323 45947323 C T SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.1001 p.R334H 0.003 pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 120 0 0 57 49 46.2264 KRTAP10-10 0 genome.wustl.edu 37 21 46057780 46057780 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 46057780 46057780 C A SNP KRTAP10-10 ENST00000380095 human ensembl 74_37 +1 known missense c.446 p.P149H 0.002 NULL NULL - no_errors KRTAP10-10 HGNC ENSG00000221859 339 0 0 208 139 40.0576 PCBP3 0 genome.wustl.edu 37 21 47333910 47333910 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 47333910 47333910 T A SNP PCBP3 ENST00000400314 human ensembl 74_37 +1 known missense c.646 p.S216T 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 87 0 0 46 32 41.0256 CECR1 0 genome.wustl.edu 37 22 17687997 17687997 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 17687997 17687997 C T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.506 p.R169Q 0.018 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 78 0 0 36 25 40.9836 DGCR2 0 genome.wustl.edu 37 22 19048366 19048366 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 19048366 19048366 G T SNP DGCR2 ENST00000545799 human ensembl 74_37 -1 known missense c.719 p.P240H 0.001 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,pfscan_LDrepeatLR_classA_rpt - no_errors DGCR2 HGNC ENSG00000070413 19 0 0 18 12 40 HIRA 0 genome.wustl.edu 37 22 19344515 19344515 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 19344515 19344515 C T SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.2294 p.R765H 1.000 pfam_Hira pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 202 0 0 132 75 36.2319 COMT 0 genome.wustl.edu 37 22 19956139 19956139 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 19956139 19956139 C T SNP COMT ENST00000361682 human ensembl 74_37 +1 known silent c.696 p.H232 0.636 pirsf_Catechol_O-MeTrfase_euk pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk - no_errors COMT HGNC ENSG00000093010 52 0 0 27 18 40 ZDHHC8 0 genome.wustl.edu 37 22 20131181 20131181 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 20131181 20131181 G A SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known silent c.2028 p.P676 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 16 0 0 7 3 30 ZNF74 0 genome.wustl.edu 37 22 20759882 20759882 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 20759882 20759882 G A SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.559 p.A187T 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 27 0 0 6 13 68.4211 KLHL22 0 genome.wustl.edu 37 22 20796462 20796462 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 20796462 20796462 C T SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known silent c.1803 p.P601 0.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 34 0 0 20 10 33.3333 HIC2 0 genome.wustl.edu 37 22 21799658 21799658 + Silent SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 21799658 21799658 G C SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known silent c.474 p.R158 0.928 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 17 0 0 7 8 53.3333 UPB1 0 genome.wustl.edu 37 22 24911250 24911250 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 24911250 24911250 G A SNP UPB1 ENST00000326010 human ensembl 74_37 +1 known missense c.703 p.G235R 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 110 0 0 70 49 41.1765 CRYBB1 0 genome.wustl.edu 37 22 27008142 27008142 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 27008142 27008142 C T SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.193 p.E65K 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 62 0 0 14 50 78.125 TBC1D10A 0 genome.wustl.edu 37 22 30690039 30690039 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 30690039 30690039 C T SNP TBC1D10A ENST00000215790 human ensembl 74_37 -1 known missense c.766 p.A256T 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 134 0 0 51 37 42.0455 PES1 0 genome.wustl.edu 37 22 30980630 30980630 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 30980630 30980630 G A SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.443 p.P148L 1.000 pfam_Pescadillo pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 37 0 0 14 13 48.1481 RASD2 0 genome.wustl.edu 37 22 35943100 35943100 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 35943100 35943100 G A SNP RASD2 ENST00000216127 human ensembl 74_37 +1 known missense c.244 p.A82T 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 RASD2 HGNC ENSG00000100302 90 0 0 27 65 70.6522 TMPRSS6 0 genome.wustl.edu 37 22 37482393 37482393 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 37482393 37482393 G A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known silent c.903 p.V301 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 25 0 0 6 21 77.7778 ELFN2 0 genome.wustl.edu 37 22 37771065 37771065 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 37771065 37771065 G T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known silent c.510 p.T170 1.000 smart_Leu-rich_rpt_typical-subtyp superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 97 0 0 53 30 36.1446 TRIOBP 0 genome.wustl.edu 37 22 38111795 38111795 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 38111795 38111795 A C SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.482 p.E161A 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 46 0 0 16 5 23.8095 SOX10 0 genome.wustl.edu 37 22 38373922 38373922 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 38373922 38373922 G T SNP SOX10 ENST00000360880 human ensembl 74_37 -1 known missense c.649 p.P217T 0.997 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX10 HGNC ENSG00000100146 37 0 0 49 5 9.25926 KCNJ4 0 genome.wustl.edu 37 22 38824088 38824088 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 38824088 38824088 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.50 p.R17H 1.000 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 406 0 0 221 145 39.6175 CACNA1I 0 genome.wustl.edu 37 22 40055783 40055783 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 40055783 40055783 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.2548 p.A850T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 120 1 0.826446 98 15 13.2743 EP300 0 genome.wustl.edu 37 22 41572350 41572350 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 41572350 41572350 C T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.4879 p.R1627W 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 126 0 0 112 6 5.08475 RANGAP1 0 genome.wustl.edu 37 22 41650492 41650492 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 41650492 41650492 G A SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known silent c.1080 p.D360 0.960 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 155 0 0 72 48 40 ZC3H7B 0 genome.wustl.edu 37 22 41745305 41745305 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 41745305 41745305 G T SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.1948 p.G650C 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 91 0 0 84 7 7.69231 PHF5A 0 genome.wustl.edu 37 22 41864625 41864625 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 41864625 41864625 G A SNP PHF5A ENST00000216252 human ensembl 74_37 -1 known silent c.33 p.C11 1.000 pfam_PHF5,pirsf_PHF5 pfam_PHF5,pirsf_PHF5 - no_errors PHF5A HGNC ENSG00000100410 54 0 0 16 41 71.9298 A4GALT 0 genome.wustl.edu 37 22 43089474 43089474 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 43089474 43089474 C T SNP A4GALT ENST00000249005 human ensembl 74_37 -1 known missense c.484 p.V162M 0.000 pfam_GlycoTrfase_DXD_sugar-bd_CS pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ENSG00000128274 79 0 0 46 18 28.125 KIAA0930 0 genome.wustl.edu 37 22 45599828 45599828 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 45599828 45599828 G T SNP KIAA0930 ENST00000251993 human ensembl 74_37 -1 known silent c.570 p.V190 1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 79 0 0 60 5 7.69231 FAM118A 0 genome.wustl.edu 37 22 45719261 45719261 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 45719261 45719261 C T SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known missense c.253 p.R85W 1.000 NULL superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 85 0 0 58 23 28.3951 CELSR1 0 genome.wustl.edu 37 22 46760452 46760452 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 46760452 46760452 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.8736 p.G2912 0.001 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 78 0 0 32 19 37.2549 BRD1 0 genome.wustl.edu 37 22 50216754 50216754 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 50216754 50216754 G A SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known silent c.1212 p.V404 0.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 229 0 0 122 80 39.604 CRELD2 0 genome.wustl.edu 37 22 50315992 50315992 + Nonsense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 50315992 50315992 G T SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known nonsense c.640 p.G214* 0.000 superfamily_Growth_fac_rcpt_N_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 17 0 0 15 5 25 TOMM70A 0 genome.wustl.edu 37 3 100096645 100096645 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 100096645 100096645 C T SNP TOMM70A ENST00000284320 human ensembl 74_37 -1 known silent c.996 p.L332 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC ENSG00000154174 88 0 0 49 30 37.9747 IRAK2 0 genome.wustl.edu 37 3 10268070 10268070 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 10268070 10268070 C A SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.1225 p.L409I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 29 0 0 9 15 62.5 BOC 0 genome.wustl.edu 37 3 112969723 112969723 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 112969723 112969723 C T SNP BOC ENST00000484034 human ensembl 74_37 +1 putative missense c.419 p.P140L 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 22 0 0 12 7 36.8421 BOC 0 genome.wustl.edu 37 3 112998720 112998720 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 112998720 112998720 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known silent c.2073 p.S691 0.768 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 116 0 0 77 40 34.188 DRD3 0 genome.wustl.edu 37 3 113878640 113878640 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 113878640 113878640 T C SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known silent c.345 p.T115 0.866 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 91 0 0 56 36 39.1304 POLQ 0 genome.wustl.edu 37 3 121251977 121251977 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 121251977 121251977 C T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.820 p.V274M 0.996 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 69 0 0 48 25 34.2466 CASR 0 genome.wustl.edu 37 3 121980530 121980530 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 121980530 121980530 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known silent c.648 p.D216 0.993 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 154 0 0 95 60 38.7097 ALDH1L1 0 genome.wustl.edu 37 3 125850310 125850310 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 125850310 125850310 C T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.1540 p.V514I 0.971 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 101 0 0 59 34 36.5591 CHST13 0 genome.wustl.edu 37 3 126261178 126261178 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 126261178 126261178 C T SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known silent c.783 p.Y261 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 10 0 0 5 6 54.5455 PLXNA1 0 genome.wustl.edu 37 3 126740964 126740964 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 126740964 126740964 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.4075 p.G1359R 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 39 0 0 23 13 36.1111 PODXL2 0 genome.wustl.edu 37 3 127358266 127358266 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 127358266 127358266 C T SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known silent c.249 p.S83 0.614 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 46 0 0 35 21 37.5 ABTB1 0 genome.wustl.edu 37 3 127399266 127399266 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 127399266 127399266 A G SNP ABTB1 ENST00000232744 human ensembl 74_37 +1 known missense c.1385 p.Q462R 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 12 0 0 7 8 53.3333 EEFSEC 0 genome.wustl.edu 37 3 127965713 127965713 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 127965713 127965713 C T SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known silent c.351 p.I117 0.828 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 192 0 0 136 72 34.6154 GATA2 0 genome.wustl.edu 37 3 128204753 128204753 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 128204753 128204753 G A SNP GATA2 ENST00000341105 human ensembl 74_37 -1 known missense c.688 p.R230C 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 56 0 0 29 18 38.2979 DNAJC13 0 genome.wustl.edu 37 3 132175582 132175582 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 132175582 132175582 G A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.1255 p.V419I 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 74 0 0 62 28 31.1111 HDAC11 0 genome.wustl.edu 37 3 13525045 13525045 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 13525045 13525045 G A SNP HDAC11 ENST00000295757 human ensembl 74_37 +1 known missense c.233 p.R78H 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 133 1 0.746269 64 29 31.1828 PPP2R3A 0 genome.wustl.edu 37 3 135722322 135722322 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 135722322 135722322 C T SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.1982 p.P661L 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 65 0 0 62 25 28.7356 PRR23B 0 genome.wustl.edu 37 3 138738987 138738987 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 138738987 138738987 C T SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known missense c.517 p.G173S 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 67 0 0 49 31 38.75 ZBTB38 0 genome.wustl.edu 37 3 141163979 141163979 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 141163979 141163979 C T SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.2752 p.R918C 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 41 0 0 29 16 35.5556 CHST2 0 genome.wustl.edu 37 3 142840163 142840163 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 142840163 142840163 G A SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.505 p.V169M 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 36 0 0 21 11 34.375 FGD5 0 genome.wustl.edu 37 3 14861510 14861510 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 14861510 14861510 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.932 p.T311I 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 85 0 0 49 31 38.75 NR2C2 0 genome.wustl.edu 37 3 15062331 15062331 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 15062331 15062331 A G SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known missense c.505 p.T169A 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 112 0 0 58 33 36.2637 CLRN1 0 genome.wustl.edu 37 3 150645745 150645745 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 150645745 150645745 A G SNP CLRN1 ENST00000328863 human ensembl 74_37 -1 known missense c.716 p.V239A 0.871 NULL NULL - no_errors CLRN1 HGNC ENSG00000163646 70 0 0 43 29 40.2778 IGSF10 0 genome.wustl.edu 37 3 151154554 151154554 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 151154554 151154554 C T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.7795 p.D2599N 0.960 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 124 0 0 80 48 37.5 IGSF10 0 genome.wustl.edu 37 3 151164291 151164291 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 151164291 151164291 C T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.3478 p.A1160T 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 291 0 0 201 116 36.5931 ZFYVE20 0 genome.wustl.edu 37 3 15119589 15119589 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 15119589 15119589 C T SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.991 p.A331T 0.997 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 56 0 0 34 19 35.8491 ANKRD28 0 genome.wustl.edu 37 3 15737709 15737709 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 15737709 15737709 G A SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.1600 p.R534C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 16 0 0 1 5 83.3333 IQCJ-SCHIP1 0 genome.wustl.edu 37 3 159583997 159583997 + Nonsense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 159583997 159583997 G T SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 74_37 +1 known nonsense c.1033 p.G345* 1.000 pfam_SCHIP_1 pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 135 0 0 86 51 37.2263 SMC4 0 genome.wustl.edu 37 3 160141239 160141239 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 160141239 160141239 C T SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known silent c.2046 p.T682 0.318 pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 93 0 0 53 45 45.9184 SMC4 0 genome.wustl.edu 37 3 160150302 160150302 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 160150302 160150302 A G SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.3529 p.S1177G 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 25 0 0 11 7 38.8889 WDR49 0 genome.wustl.edu 37 3 167249049 167249049 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 167249049 167249049 A G SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.1016 p.L339P 0.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 67 0 0 49 34 40.9639 TNFSF10 0 genome.wustl.edu 37 3 172241171 172241171 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 172241171 172241171 C A SNP TNFSF10 ENST00000241261 human ensembl 74_37 -1 known missense c.4 p.A2S 0.044 pirsf_TNF_ligand_10/11 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF10 HGNC ENSG00000121858 63 0 0 59 29 32.9545 ACTL6A 0 genome.wustl.edu 37 3 179298752 179298752 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 179298752 179298752 C T SNP ACTL6A ENST00000429709 human ensembl 74_37 +1 known missense c.901 p.R301W 0.997 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6A HGNC ENSG00000136518 108 0 0 80 46 36.5079 LAMP3 0 genome.wustl.edu 37 3 182870248 182870248 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 182870248 182870248 G A SNP LAMP3 ENST00000265598 human ensembl 74_37 -1 known missense c.803 p.T268M 0.655 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP3 HGNC ENSG00000078081 290 0 0 172 108 38.5714 MCF2L2 0 genome.wustl.edu 37 3 183035921 183035921 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 183035921 183035921 G A SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.688 p.P230S 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 51 0 0 27 14 34.1463 ABCC5 0 genome.wustl.edu 37 3 183665239 183665239 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 183665239 183665239 C T SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.3287 p.R1096Q 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 37 0 0 16 14 46.6667 DVL3 0 genome.wustl.edu 37 3 183885455 183885455 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 183885455 183885455 G A SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.1286 p.R429H 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 60 0 0 43 20 31.746 SATB1 0 genome.wustl.edu 37 3 18393620 18393620 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 18393620 18393620 T C SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.1643 p.N548S 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 68 0 0 48 38 44.186 PSMD2 0 genome.wustl.edu 37 3 184018118 184018118 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 184018118 184018118 G C SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.243 p.Q81H 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 89 0 0 45 30 40 RTP1 0 genome.wustl.edu 37 3 186915363 186915363 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 186915363 186915363 C T SNP RTP1 ENST00000312295 human ensembl 74_37 +1 known silent c.60 p.S20 0.000 NULL NULL - no_errors RTP1 HGNC ENSG00000175077 113 0 0 65 38 36.8932 RTP2 0 genome.wustl.edu 37 3 187416477 187416477 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 187416477 187416477 C T SNP RTP2 ENST00000358241 human ensembl 74_37 -1 known missense c.487 p.V163I 0.998 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 51 0 0 38 21 35.5932 TPRG1 0 genome.wustl.edu 37 3 189038590 189038590 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 189038590 189038590 G A SNP TPRG1 ENST00000345063 human ensembl 74_37 +1 known missense c.809 p.R270H 1.000 NULL pfam_Inositol_phosphatase - no_errors TPRG1 HGNC ENSG00000188001 32 0 0 23 10 30.303 CCDC50 0 genome.wustl.edu 37 3 191087798 191087798 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 191087798 191087798 G A SNP CCDC50 ENST00000392456 human ensembl 74_37 +1 known missense c.421 p.A141T 0.964 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 114 0 0 97 48 33.1034 MB21D2 0 genome.wustl.edu 37 3 192516769 192516769 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 192516769 192516769 G A SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known silent c.882 p.S294 0.998 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 55 0 0 25 18 41.8605 OPA1 0 genome.wustl.edu 37 3 193336664 193336664 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 193336664 193336664 C T SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.617 p.P206L 0.990 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 117 0 0 74 36 32.7273 SDHAP1 0 genome.wustl.edu 37 3 195701373 195701373 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 195701373 195701373 G A SNP SDHAP1 ENST00000427841 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 101 0 0 122 15 10.9489 RNF168 0 genome.wustl.edu 37 3 196229935 196229935 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 196229935 196229935 T C SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known missense c.110 p.K37R 0.285 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 107 0 0 59 36 37.8947 NRROS 0 genome.wustl.edu 37 3 196386950 196386950 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 196386950 196386950 G A SNP NRROS ENST00000328557 human ensembl 74_37 +1 known missense c.436 p.E146K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 37 0 0 25 13 34.2105 DLG1 0 genome.wustl.edu 37 3 196792302 196792302 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 196792302 196792302 G A SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known nonsense c.2317 p.R773* 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 55 0 0 35 18 33.9623 DLG1 0 genome.wustl.edu 37 3 196793609 196793609 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 196793609 196793609 G A SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known silent c.2163 p.Y721 1.000 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 79 0 0 60 30 33.3333 TOP2B 0 genome.wustl.edu 37 3 25674015 25674015 + Silent SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 25674015 25674015 A C SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known silent c.1188 p.S396 1.000 pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 11 0 0 5 5 50 EOMES 0 genome.wustl.edu 37 3 27759208 27759208 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 27759208 27759208 C T SNP EOMES ENST00000449599 human ensembl 74_37 -1 known missense c.1471 p.V491I 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 82 0 0 62 31 33.3333 AZI2 0 genome.wustl.edu 37 3 28379465 28379465 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 28379465 28379465 T C SNP AZI2 ENST00000479665 human ensembl 74_37 -1 known silent c.402 p.E134 0.962 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 59 0 0 29 24 45.283 DYNC1LI1 0 genome.wustl.edu 37 3 32568309 32568309 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 32568309 32568309 C T SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known silent c.1554 p.T518 0.996 NULL pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 77 0 0 62 33 34.7368 ARPP21 0 genome.wustl.edu 37 3 35785437 35785437 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 35785437 35785437 C T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.2015 p.P672L 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 89 0 0 63 41 39.4231 DCLK3 0 genome.wustl.edu 37 3 36759553 36759553 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 36759553 36759553 G T SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known silent c.1701 p.I567 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 183 0 0 107 61 36.3095 PLCD1 0 genome.wustl.edu 37 3 38049344 38049344 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 38049344 38049344 G A SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known missense c.2254 p.R752C 1.000 superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 48 0 0 22 9 29.0323 GORASP1 0 genome.wustl.edu 37 3 39142646 39142646 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 39142646 39142646 G A SNP GORASP1 ENST00000479124 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors GORASP1 HGNC ENSG00000114745 15 0 0 10 7 41.1765 ULK4 0 genome.wustl.edu 37 3 41938397 41938397 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 41938397 41938397 G A SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known nonsense c.1447 p.R483* 0.943 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 94 0 0 79 38 32.4786 NKTR 0 genome.wustl.edu 37 3 42680001 42680001 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 42680001 42680001 G A SNP NKTR ENST00000232978 human ensembl 74_37 +1 known silent c.2805 p.S935 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 71 0 0 34 22 39.2857 KLHL40 0 genome.wustl.edu 37 3 42727708 42727708 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 42727708 42727708 C T SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known missense c.598 p.R200W 0.198 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 11 0 0 5 2 28.5714 ANO10 0 genome.wustl.edu 37 3 43647331 43647331 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 43647331 43647331 A G SNP ANO10 ENST00000292246 human ensembl 74_37 -1 known missense c.14 p.L5S 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 44 0 0 35 8 18.6047 XCR1 0 genome.wustl.edu 37 3 46063377 46063377 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 46063377 46063377 C T SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known silent c.63 p.P21 0.210 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 71 0 0 50 33 39.759 LRRC2 0 genome.wustl.edu 37 3 46563024 46563024 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 46563024 46563024 G T SNP LRRC2 ENST00000296144 human ensembl 74_37 -1 known missense c.1054 p.L352I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC2 HGNC ENSG00000163827 21 0 0 15 9 37.5 SETD2 0 genome.wustl.edu 37 3 47139450 47139450 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 47139450 47139450 C A SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.5137 p.D1713Y 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 86 0 0 55 32 36.7816 SETD2 0 genome.wustl.edu 37 3 47163427 47163427 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 47163427 47163427 C T SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.2699 p.C900Y 0.664 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 103 0 0 50 37 42.5287 SMARCC1 0 genome.wustl.edu 37 3 47629765 47629765 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 47629765 47629765 T C SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known silent c.3252 p.P1084 0.007 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 52 0 0 30 21 41.1765 NME6 0 genome.wustl.edu 37 3 48336187 48336187 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 48336187 48336187 G A SNP NME6 ENST00000450160 human ensembl 74_37 -1 known missense c.461 p.A154V 0.491 NULL pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase - no_errors NME6 HGNC ENSG00000172113 99 0 0 87 8 8.42105 ITPR1 0 genome.wustl.edu 37 3 4859884 4859884 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 4859884 4859884 C T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.7941 p.T2647 0.005 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 33 0 0 23 9 28.125 CELSR3 0 genome.wustl.edu 37 3 48682920 48682920 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 48682920 48682920 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.7768 p.A2590T 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 94 0 0 52 26 33.3333 USP19 0 genome.wustl.edu 37 3 49156569 49156569 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 49156569 49156569 C T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.10 p.G4R 0.492 NULL pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 93 0 0 62 28 31.1111 LAMB2 0 genome.wustl.edu 37 3 49162267 49162267 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 49162267 49162267 A G SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.2976 p.I992 0.999 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 84 0 0 55 7 11.2903 BSN 0 genome.wustl.edu 37 3 49698693 49698693 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 49698693 49698693 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.9415 p.R3139C 0.863 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 55 0 0 43 24 35.8209 GMPPB 0 genome.wustl.edu 37 3 49760113 49760113 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 49760113 49760113 G A SNP GMPPB ENST00000308375 human ensembl 74_37 -1 known silent c.477 p.F159 0.882 pfam_NTP_transferase pfam_NTP_transferase,pfam_Hexapep_transf - no_errors GMPPB HGNC ENSG00000173540 35 0 0 26 16 38.0952 TRAIP 0 genome.wustl.edu 37 3 49866635 49866635 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 49866635 49866635 T C SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known silent c.1311 p.P437 0.986 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 127 0 0 70 35 33.3333 CAMKV 0 genome.wustl.edu 37 3 49898957 49898957 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 49898957 49898957 T C SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.356 p.E119G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKV HGNC ENSG00000164076 82 0 0 67 5 6.94444 ZMYND10 0 genome.wustl.edu 37 3 50381254 50381254 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 50381254 50381254 C T SNP ZMYND10 ENST00000231749 human ensembl 74_37 -1 known missense c.229 p.A77T 0.002 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 99 0 0 52 27 34.1772 RBM15B 0 genome.wustl.edu 37 3 51429992 51429992 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 51429992 51429992 G T SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known missense c.1162 p.D388Y 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 62 0 0 28 19 40.4255 RAD54L2 0 genome.wustl.edu 37 3 51677945 51677945 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 51677945 51677945 A G SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.2405 p.N802S 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 11 0 0 12 5 29.4118 RAD54L2 0 genome.wustl.edu 37 3 51680401 51680401 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 51680401 51680401 G A SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.2930 p.R977H 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 25 0 0 7 12 63.1579 DNAH1 0 genome.wustl.edu 37 3 52393996 52393996 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 52393996 52393996 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.4472 p.A1491V 0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 181 0 0 90 48 34.7826 STAB1 0 genome.wustl.edu 37 3 52555418 52555418 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 52555418 52555418 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.5950 p.V1984M 0.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 96 0 0 64 38 37.2549 SPCS1 0 genome.wustl.edu 37 3 52740858 52740858 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 52740858 52740858 T G SNP SPCS1 ENST00000233025 human ensembl 74_37 +1 known missense c.347 p.V116G 1.000 pfam_SPC12 pfam_SPC12 - no_errors SPCS1 HGNC ENSG00000114902 230 0 0 124 92 42.5926 CACNA1D 0 genome.wustl.edu 37 3 53700370 53700370 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 53700370 53700370 C T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known silent c.924 p.I308 0.386 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 174 0 0 84 67 44.3709 LRTM1 0 genome.wustl.edu 37 3 54952736 54952736 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 54952736 54952736 G A SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.788 p.A263V 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 42 0 0 31 14 31.1111 ASB14 0 genome.wustl.edu 37 3 57312678 57312678 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 57312678 57312678 C T SNP ASB14 ENST00000389601 human ensembl 74_37 -1 known silent c.1158 p.P386 0.620 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB14 HGNC ENSG00000239388 55 0 0 57 7 10.9375 PRICKLE2 0 genome.wustl.edu 37 3 64133162 64133162 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 64133162 64133162 C T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.1004 p.R335Q 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 155 0 0 115 65 36.1111 ADAMTS9 0 genome.wustl.edu 37 3 64672445 64672445 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 64672445 64672445 G A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known silent c.315 p.F105 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 46 0 0 25 15 37.5 KBTBD8 0 genome.wustl.edu 37 3 67049611 67049611 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 67049611 67049611 T C SNP KBTBD8 ENST00000417314 human ensembl 74_37 +1 known missense c.223 p.F75L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD8 HGNC ENSG00000163376 127 0 0 89 49 35.5072 FAM19A4 0 genome.wustl.edu 37 3 68782295 68782295 + Nonstop_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 68782295 68782295 A G SNP FAM19A4 ENST00000295569 human ensembl 74_37 -1 known nonstop c.421 p.*141Q 1.000 NULL pfam_Chemokine-like_FAM19A2 - no_errors FAM19A4 HGNC ENSG00000163377 105 0 0 55 41 42.7083 TMF1 0 genome.wustl.edu 37 3 69097100 69097100 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 69097100 69097100 A G SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known silent c.756 p.G252 0.962 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 72 0 0 31 31 50 PDZRN3 0 genome.wustl.edu 37 3 73433476 73433476 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 73433476 73433476 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.2241 p.P747 0.038 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 47 0 0 50 4 7.40741 CNTN3 0 genome.wustl.edu 37 3 74334537 74334537 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 74334537 74334537 A G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2623 p.Y875H 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 173 0 0 106 74 41.1111 FAM86DP 0 genome.wustl.edu 37 3 75471439 75471439 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 75471439 75471439 G A SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors FAM86DP HGNC ENSG00000244026 9 0 0 3 4 57.1429 GRM7 0 genome.wustl.edu 37 3 7721813 7721813 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 7721813 7721813 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.2529 p.P843 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 69 0 0 46 26 36.1111 ROBO1 0 genome.wustl.edu 37 3 78737895 78737895 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 78737895 78737895 C T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.1073 p.R358H 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 17 0 0 12 9 42.8571 ROBO1 0 genome.wustl.edu 37 3 78796030 78796030 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 78796030 78796030 G A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known nonsense c.520 p.Q174* 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 33 0 0 24 12 33.3333 PROS1 0 genome.wustl.edu 37 3 93593131 93593131 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 93593131 93593131 A G SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known silent c.1989 p.A663 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 62 0 0 31 22 41.5094 SETD5 0 genome.wustl.edu 37 3 9514939 9514939 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 9514939 9514939 G A SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.3215 p.R1072Q 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 45 0 0 24 18 42.8571 OR5H1 0 genome.wustl.edu 37 3 97851635 97851635 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 97851635 97851635 T C SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known silent c.94 p.L32 0.785 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 95 0 0 55 45 45 CLDND1 0 genome.wustl.edu 37 3 98235544 98235544 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 98235544 98235544 G A SNP CLDND1 ENST00000437922 human ensembl 74_37 -1 known missense c.790 p.R264W 1.000 NULL pfam_PMP22/EMP/MP20/Claudin - no_errors CLDND1 HGNC ENSG00000080822 72 0 0 44 26 37.1429 GPR15 0 genome.wustl.edu 37 3 98251047 98251047 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 98251047 98251047 C T SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known missense c.170 p.A57V 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 57 0 0 33 24 42.1053 CPOX 0 genome.wustl.edu 37 3 98300252 98300252 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 98300252 98300252 G A SNP CPOX ENST00000264193 human ensembl 74_37 -1 known nonsense c.1276 p.R426* 0.987 pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer,prints_Coprogen_oxidase_aer pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer,prints_Coprogen_oxidase_aer - no_errors CPOX HGNC ENSG00000080819 56 0 0 39 19 32.7586 TADA3 0 genome.wustl.edu 37 3 9832966 9832966 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 9832966 9832966 C T SNP TADA3 ENST00000301964 human ensembl 74_37 -1 known missense c.185 p.R62H 1.000 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 74 0 0 36 19 34.5455 TTLL3 0 genome.wustl.edu 37 3 9867614 9867614 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 9867614 9867614 G A SNP TTLL3 ENST00000426895 human ensembl 74_37 +1 known missense c.1285 p.A429T 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 53 0 0 43 7 14 WDR1 0 genome.wustl.edu 37 4 10080545 10080545 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 10080545 10080545 G A SNP WDR1 ENST00000382452 human ensembl 74_37 -1 known silent c.1365 p.P455 0.006 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR1 HGNC ENSG00000071127 62 0 0 27 19 41.3043 SLC39A8 0 genome.wustl.edu 37 4 103228644 103228644 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 103228644 103228644 C T SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known silent c.501 p.G167 0.479 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 169 0 0 103 54 34.3949 TACR3 0 genome.wustl.edu 37 4 104512673 104512673 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 104512673 104512673 A T SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.1056 p.N352K 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 99 0 0 70 40 36.3636 ALPK1 0 genome.wustl.edu 37 4 113352968 113352968 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 113352968 113352968 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known silent c.2265 p.C755 0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 80 0 0 45 24 34.7826 HS3ST1 0 genome.wustl.edu 37 4 11400913 11400913 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 11400913 11400913 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known silent c.717 p.P239 0.989 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 44 0 0 26 24 48 NDST3 0 genome.wustl.edu 37 4 118975891 118975891 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 118975891 118975891 T G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.826 p.L276V 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 161 0 0 118 57 32.5714 TRPC3 0 genome.wustl.edu 37 4 122853799 122853799 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 122853799 122853799 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.614 p.R205H 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 44 0 0 24 19 44.186 ADAD1 0 genome.wustl.edu 37 4 123329146 123329146 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 123329146 123329146 G A SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.808 p.D270N 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 58 0 0 38 33 46.4789 PCDH18 0 genome.wustl.edu 37 4 138451389 138451389 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 138451389 138451389 G A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.1854 p.C618 0.978 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 PCDH18 HGNC ENSG00000189184 285 0 0 180 118 39.5973 TBC1D9 0 genome.wustl.edu 37 4 141578953 141578953 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 141578953 141578953 G T SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1935 p.D645E 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 167 0 0 101 65 39.1566 CPEB2 0 genome.wustl.edu 37 4 15009113 15009113 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 15009113 15009113 A G SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.1847 p.K616R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 76 0 0 56 31 35.6322 FBXW7 0 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 153247289 153247289 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1513 p.R505C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 121 0 0 67 52 43.6975 CC2D2A 0 genome.wustl.edu 37 4 15539598 15539598 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 15539598 15539598 A G SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.1841 p.E614G 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 19 0 0 20 3 13.0435 TDO2 0 genome.wustl.edu 37 4 156825180 156825180 + Nonsense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 156825180 156825180 A T SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known nonsense c.46 p.K16* 0.019 NULL pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 42 0 0 46 27 36.9863 FSTL5 0 genome.wustl.edu 37 4 162697165 162697165 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 162697165 162697165 A C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.471 p.N157K 0.990 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 36 0 0 34 15 30.6122 TLL1 0 genome.wustl.edu 37 4 166910564 166910564 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 166910564 166910564 T C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.201 p.D67 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 92 0 0 58 37 38.9474 ANXA10 0 genome.wustl.edu 37 4 169083678 169083678 + Splice_Site SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 169083678 169083678 G A SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known splice_site c.196-1 e4-1 1.000 - - - no_errors ANXA10 HGNC ENSG00000109511 38 0 0 29 18 38.2979 NEK1 0 genome.wustl.edu 37 4 170322819 170322819 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 170322819 170322819 G A SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known silent c.3567 p.N1189 0.995 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 229 0 0 130 103 44.206 GALNTL6 0 genome.wustl.edu 37 4 173873245 173873245 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 173873245 173873245 C T SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.1207 p.R403W 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 85 0 0 52 33 38.8235 GALNTL6 0 genome.wustl.edu 37 4 173930422 173930422 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 173930422 173930422 G A SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.1465 p.E489K 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 74 0 0 46 21 31.3433 ADAM29 0 genome.wustl.edu 37 4 175898755 175898755 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 175898755 175898755 T C SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known silent c.2079 p.C693 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 28 0 0 17 14 45.1613 ENPP6 0 genome.wustl.edu 37 4 185038136 185038136 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 185038136 185038136 A G SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known missense c.728 p.M243T 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 72 0 0 38 21 35.5932 TLR3 0 genome.wustl.edu 37 4 187004768 187004768 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 187004768 187004768 G A SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known missense c.1928 p.R643H 0.313 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 109 0 0 83 62 42.7586 FAT1 0 genome.wustl.edu 37 4 187541438 187541438 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 187541438 187541438 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.6302 p.R2101H 0.975 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 171 0 0 136 63 31.6583 CCKAR 0 genome.wustl.edu 37 4 26483560 26483560 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 26483560 26483560 G T SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known silent c.987 p.I329 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 106 0 0 58 35 37.6344 TLR1 0 genome.wustl.edu 37 4 38800236 38800236 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 38800236 38800236 T C SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known missense c.217 p.I73V 0.905 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 155 0 0 103 56 35.2201 FAM86EP 0 genome.wustl.edu 37 4 3949803 3949803 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 3949803 3949803 C T SNP FAM86EP ENST00000313946 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors FAM86EP HGNC ENSG00000251669 56 0 0 32 20 38.4615 RBM47 0 genome.wustl.edu 37 4 40440469 40440469 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 40440469 40440469 C T SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.442 p.V148M 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 74 0 0 34 27 44.2623 OTOP1 0 genome.wustl.edu 37 4 4199699 4199699 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 4199699 4199699 G A SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known silent c.862 p.L288 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 77 0 0 46 27 36.9863 ABCA11P 0 genome.wustl.edu 37 4 420302 420302 + RNA SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 420302 420302 A C SNP ABCA11P ENST00000451020 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ABCA11P HGNC ENSG00000251595 61 0 0 27 14 34.1463 BEND4 0 genome.wustl.edu 37 4 42145857 42145857 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 42145857 42145857 G C SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.642 p.H214Q 0.070 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 37 0 0 19 15 44.1176 OTOP1 0 genome.wustl.edu 37 4 4228387 4228387 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 4228387 4228387 C T SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known missense c.205 p.V69M 1.000 NULL pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 20 0 0 13 5 27.7778 SPATA18 0 genome.wustl.edu 37 4 52943043 52943043 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 52943043 52943043 C A SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.857 p.P286Q 0.879 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 60 0 0 35 23 39.6552 PDGFRA 0 genome.wustl.edu 37 4 55129867 55129867 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 55129867 55129867 C T SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.401 p.T134M 0.041 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 107 0 0 89 31 25.8333 EVC2 0 genome.wustl.edu 37 4 5620262 5620262 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 5620262 5620262 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.2649 p.A883 0.061 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 75 0 0 30 22 42.3077 CEP135 0 genome.wustl.edu 37 4 56841070 56841070 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 56841070 56841070 C T SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known nonsense c.1408 p.R470* 0.976 superfamily_EB1_C superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 90 0 0 59 24 28.9157 KIAA1211 0 genome.wustl.edu 37 4 57181497 57181497 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 57181497 57181497 T C SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.1829 p.L610P 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 42 0 0 11 13 54.1667 EVC 0 genome.wustl.edu 37 4 5803693 5803693 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 5803693 5803693 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.2321 p.A774V 0.011 NULL NULL - no_errors EVC HGNC ENSG00000072840 28 0 0 13 12 48 C4orf50 0 genome.wustl.edu 37 4 5990091 5990091 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 5990091 5990091 G T SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.1408 p.L470M 0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 46 0 0 25 11 30.5556 JAKMIP1 0 genome.wustl.edu 37 4 6107463 6107463 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 6107463 6107463 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.361 p.R121C 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 22 0 0 14 10 41.6667 JAKMIP1 0 genome.wustl.edu 37 4 6107671 6107671 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 6107671 6107671 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.153 p.L51 0.997 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 41 0 0 22 14 38.8889 PDE6B 0 genome.wustl.edu 37 4 661762 661762 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 661762 661762 A G SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.2470 p.K824E 0.998 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 139 0 0 70 45 39.1304 TMPRSS11F 0 genome.wustl.edu 37 4 68930611 68930611 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 68930611 68930611 T C SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known silent c.807 p.P269 0.998 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 37 0 0 28 15 34.8837 YTHDC1 0 genome.wustl.edu 37 4 69182036 69182036 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 69182036 69182036 C T SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1955 p.R652Q 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 191 0 0 113 82 42.0513 UTP3 0 genome.wustl.edu 37 4 71555158 71555158 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 71555158 71555158 T A SNP UTP3 ENST00000254803 human ensembl 74_37 +1 known missense c.764 p.I255N 0.173 pfam_Sas10/Utp3/C1D pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 87 0 0 65 29 30.8511 RUFY3 0 genome.wustl.edu 37 4 71660563 71660563 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 71660563 71660563 C T SNP RUFY3 ENST00000381006 human ensembl 74_37 +1 novel silent c.1509 p.N503 0.012 NULL pfam_Run,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 115 0 0 64 36 36 SORCS2 0 genome.wustl.edu 37 4 7725544 7725544 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 7725544 7725544 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known missense c.2545 p.R849C 0.999 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 80 0 0 48 30 38.4615 CCDC158 0 genome.wustl.edu 37 4 77300523 77300523 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 77300523 77300523 G A SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.949 p.R317C 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 65 0 0 43 24 35.8209 SHROOM3 0 genome.wustl.edu 37 4 77660524 77660524 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 77660524 77660524 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.1198 p.R400W 0.612 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 45 0 0 43 26 37.6812 FRAS1 0 genome.wustl.edu 37 4 79300892 79300892 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 79300892 79300892 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.3305 p.T1102I 0.009 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 64 0 0 29 23 44.2308 BMP2K 0 genome.wustl.edu 37 4 79786730 79786730 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 79786730 79786730 C T SNP BMP2K ENST00000335016 human ensembl 74_37 +1 known missense c.1087 p.P363S 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMP2K HGNC ENSG00000138756 63 0 0 34 22 39.2857 SH3TC1 0 genome.wustl.edu 37 4 8228895 8228895 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 8228895 8228895 G A SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.1474 p.D492N 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 25 0 0 9 7 43.75 ACOX3 0 genome.wustl.edu 37 4 8398744 8398744 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 8398744 8398744 C T SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.976 p.A326T 0.821 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 110 0 0 55 20 26.6667 PLAC8 0 genome.wustl.edu 37 4 84026090 84026090 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 84026090 84026090 C T SNP PLAC8 ENST00000311507 human ensembl 74_37 -1 known missense c.202 p.V68I 0.959 pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors PLAC8 HGNC ENSG00000145287 68 0 0 51 26 33.7662 GPR78 0 genome.wustl.edu 37 4 8588903 8588903 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 8588903 8588903 G A SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known missense c.905 p.R302H 0.533 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 59 0 0 31 27 46.5517 CPZ 0 genome.wustl.edu 37 4 8608573 8608573 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 8608573 8608573 G A SNP CPZ ENST00000360986 human ensembl 74_37 +1 known missense c.1016 p.R339H 0.056 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 30 0 0 17 19 52.7778 SPP1 0 genome.wustl.edu 37 4 88898240 88898240 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 88898240 88898240 G T SNP SPP1 ENST00000395080 human ensembl 74_37 +1 known missense c.84 p.E28D 1.000 pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 51 0 0 28 17 37.7778 PPM1K 0 genome.wustl.edu 37 4 89192304 89192304 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 89192304 89192304 G A SNP PPM1K ENST00000315194 human ensembl 74_37 -1 known silent c.579 p.P193 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom - no_errors PPM1K HGNC ENSG00000163644 19 0 0 12 11 47.8261 ATOH1 0 genome.wustl.edu 37 4 94750179 94750179 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 94750179 94750179 G A SNP ATOH1 ENST00000306011 human ensembl 74_37 +1 known silent c.102 p.P34 0.941 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 54 0 0 27 19 41.3043 ATOH1 0 genome.wustl.edu 37 4 94750450 94750450 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 94750450 94750450 C T SNP ATOH1 ENST00000306011 human ensembl 74_37 +1 known missense c.373 p.R125W 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 44 0 0 29 16 35.5556 NUDT12 0 genome.wustl.edu 37 5 102895167 102895167 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 102895167 102895167 C T SNP NUDT12 ENST00000230792 human ensembl 74_37 -1 known missense c.209 p.C70Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC ENSG00000112874 77 0 0 36 18 33.3333 FBXL17 0 genome.wustl.edu 37 5 107559886 107559886 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 107559886 107559886 T G SNP FBXL17 ENST00000542267 human ensembl 74_37 -1 known missense c.1550 p.E517A 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL17 HGNC ENSG00000145743 76 0 0 45 28 38.3562 KCNN2 0 genome.wustl.edu 37 5 113698877 113698877 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 113698877 113698877 C T SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known silent c.405 p.S135 1.000 pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 47 0 0 28 21 42.8571 AQPEP 0 genome.wustl.edu 37 5 115298452 115298452 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 115298452 115298452 G A SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known silent c.138 p.S46 0.004 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 52 0 0 40 16 28.5714 SEMA6A 0 genome.wustl.edu 37 5 115783385 115783385 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 115783385 115783385 C T SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2068 p.V690I 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 44 0 0 19 22 53.6585 ENSG00000249996 0 genome.wustl.edu 37 5 122372186 122372186 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 122372186 122372186 C T SNP ENSG00000249996 ENST00000506859 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-359P5.1 Clone_based_vega_gene ENSG00000249996 18 0 0 8 4 33.3333 PHAX 0 genome.wustl.edu 37 5 125939525 125939525 + Silent SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 125939525 125939525 T G SNP PHAX ENST00000297540 human ensembl 74_37 +1 known silent c.360 p.A120 0.449 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 64 0 0 30 29 49.1525 LMNB1 0 genome.wustl.edu 37 5 126147446 126147446 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 126147446 126147446 G A SNP LMNB1 ENST00000494185 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LMNB1 HGNC ENSG00000113368 59 0 0 32 18 36 SHROOM1 0 genome.wustl.edu 37 5 132159958 132159958 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 132159958 132159958 C T SNP SHROOM1 ENST00000378679 human ensembl 74_37 -1 known silent c.1395 p.R465 0.001 NULL pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 39 0 0 22 20 47.619 CLPTM1L 0 genome.wustl.edu 37 5 1335244 1335244 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 1335244 1335244 C T SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known missense c.724 p.D242N 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 126 0 0 64 48 42.8571 PHF15 0 genome.wustl.edu 37 5 133914490 133914490 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 133914490 133914490 C T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.1856 p.T619M 0.993 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 66 0 0 39 15 27.7778 TGFBI 0 genome.wustl.edu 37 5 135391436 135391436 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 135391436 135391436 C T SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.1478 p.T493M 0.998 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 26 0 0 31 7 18.4211 PKD2L2 0 genome.wustl.edu 37 5 137244597 137244597 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 137244597 137244597 A G SNP PKD2L2 ENST00000508883 human ensembl 74_37 +1 known silent c.1290 p.G430 0.999 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 40 0 0 36 3 7.69231 CTNNA1 0 genome.wustl.edu 37 5 138145810 138145810 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 138145810 138145810 C T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known nonsense c.385 p.R129* 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 103 0 0 51 36 41.3793 PCDHA1 0 genome.wustl.edu 37 5 140166926 140166926 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140166926 140166926 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1051 p.A351T 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 66 0 0 53 37 41.1111 PCDHA10 0 genome.wustl.edu 37 5 140237715 140237715 + Silent SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140237715 140237715 C G SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.2082 p.V694 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 81 0 0 35 24 40.678 PCDHA11 0 genome.wustl.edu 37 5 140250745 140250745 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140250745 140250745 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.2057 p.A686V 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 72 0 0 44 35 44.3038 PCDHA12 0 genome.wustl.edu 37 5 140256290 140256290 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140256290 140256290 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1233 p.S411 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 284 0 0 168 82 32.8 PCDHB1 0 genome.wustl.edu 37 5 140431806 140431806 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140431806 140431806 G A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.751 p.V251I 0.078 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 39 0 0 21 8 27.5862 PCDHB2 0 genome.wustl.edu 37 5 140474383 140474383 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140474383 140474383 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.9 p.A3 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 70 0 0 30 18 37.5 PCDHB2 0 genome.wustl.edu 37 5 140474556 140474556 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140474556 140474556 T G SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.182 p.L61R 0.778 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 64 0 0 23 27 54 PCDHB5 0 genome.wustl.edu 37 5 140517067 140517067 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140517067 140517067 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.2051 p.S684L 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 188 0 0 125 76 37.8109 PCDHB6 0 genome.wustl.edu 37 5 140530541 140530541 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140530541 140530541 A G SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.703 p.N235D 0.999 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 60 0 0 37 24 39.3443 ENSG00000255622 0 genome.wustl.edu 37 5 140537160 140537160 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140537160 140537160 C T SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.1584 p.F528 0.999 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 PCDHB17 Uniprot_gn ENSG00000255622 145 0 0 78 46 37.0968 ENSG00000255622 0 genome.wustl.edu 37 5 140537175 140537175 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140537175 140537175 C T SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.1599 p.G533 0.494 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 PCDHB17 Uniprot_gn ENSG00000255622 135 0 0 68 40 37.037 PCDHB7 0 genome.wustl.edu 37 5 140553461 140553461 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140553461 140553461 C A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1045 p.L349M 0.005 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 38 0 0 27 24 47.0588 PCDHB7 0 genome.wustl.edu 37 5 140554770 140554770 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140554770 140554770 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.2354 p.R785H 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 130 0 0 131 14 9.65517 PCDHB8 0 genome.wustl.edu 37 5 140559570 140559570 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140559570 140559570 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1955 p.P652L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 90 0 0 38 21 35.5932 PCDHB18 0 genome.wustl.edu 37 5 140615913 140615913 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140615913 140615913 C T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 156 0 0 86 53 38.1295 PCDHB15 0 genome.wustl.edu 37 5 140626234 140626234 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140626234 140626234 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1088 p.T363I 0.940 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 83 0 0 61 46 42.9907 PCDHGA7 0 genome.wustl.edu 37 5 140762727 140762727 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140762727 140762727 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.261 p.A87 0.973 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 86 0 0 63 39 38.2353 PCDHGA7 0 genome.wustl.edu 37 5 140763083 140763083 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140763083 140763083 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.617 p.R206Q 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 20 0 0 11 7 38.8889 PCDHGA11 0 genome.wustl.edu 37 5 140800995 140800995 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140800995 140800995 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.201 p.I67 0.017 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 93 0 0 59 29 32.9545 PCDHGB8P 0 genome.wustl.edu 37 5 140807364 140807364 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140807364 140807364 G A SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 0.064 - - - no_errors PCDHGB8P HGNC ENSG00000248449 21 0 0 9 14 60.8696 PCDHGA12 0 genome.wustl.edu 37 5 140811757 140811757 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140811757 140811757 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.1431 p.H477 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 63 0 0 30 19 38.7755 HDAC3 0 genome.wustl.edu 37 5 141008157 141008157 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 141008157 141008157 G A SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known silent c.660 p.N220 0.994 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 64 0 0 52 33 38.8235 ARHGAP26 0 genome.wustl.edu 37 5 142500657 142500657 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 142500657 142500657 T C SNP ARHGAP26 ENST00000274498 human ensembl 74_37 +1 known missense c.1643 p.M548T 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP26 HGNC ENSG00000145819 90 0 0 63 34 35.0515 TRIO 0 genome.wustl.edu 37 5 14291209 14291209 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 14291209 14291209 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.925 p.P309S 0.999 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 97 0 0 52 39 42.8571 TRIO 0 genome.wustl.edu 37 5 14364895 14364895 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 14364895 14364895 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.2724 p.Q908 0.994 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 43 0 0 27 23 46 SH3RF2 0 genome.wustl.edu 37 5 145442093 145442093 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 145442093 145442093 G A SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known silent c.2019 p.A673 0.036 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 87 0 0 52 27 34.1772 TCERG1 0 genome.wustl.edu 37 5 145849218 145849218 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 145849218 145849218 A T SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known missense c.1310 p.E437V 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 211 0 0 121 74 37.9487 CCNJL 0 genome.wustl.edu 37 5 159707575 159707575 + Silent SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 159707575 159707575 G T SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known silent c.237 p.S79 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 136 0 0 67 46 40.708 ATP10B 0 genome.wustl.edu 37 5 160042941 160042941 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 160042941 160042941 C T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.2557 p.A853T 1.000 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 ATP10B HGNC ENSG00000118322 49 0 0 27 15 35.7143 GABRA1 0 genome.wustl.edu 37 5 161292758 161292758 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 161292758 161292758 C T SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known silent c.219 p.F73 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 160 0 0 87 65 42.7632 MYO10 0 genome.wustl.edu 37 5 16794807 16794807 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 16794807 16794807 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.415 p.E139K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 24 0 0 23 10 30.303 DUSP1 0 genome.wustl.edu 37 5 172195819 172195819 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 172195819 172195819 C T SNP DUSP1 ENST00000239223 human ensembl 74_37 -1 known silent c.1050 p.T350 0.066 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP1 HGNC ENSG00000120129 111 0 0 86 6 6.52174 BNIP1 0 genome.wustl.edu 37 5 172585829 172585829 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 172585829 172585829 G A SNP BNIP1 ENST00000231668 human ensembl 74_37 +1 known missense c.481 p.G161R 1.000 NULL pfam_Sec20 - no_errors BNIP1 HGNC ENSG00000113734 67 0 0 40 28 41.1765 BASP1 0 genome.wustl.edu 37 5 17275856 17275856 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 17275856 17275856 G A SNP BASP1 ENST00000322611 human ensembl 74_37 +1 known silent c.531 p.S177 0.663 pfam_BASP1 pfam_BASP1 - no_errors BASP1 HGNC ENSG00000176788 30 0 0 13 12 48 GPRIN1 0 genome.wustl.edu 37 5 176023843 176023843 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 176023843 176023843 C A SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known missense c.2993 p.R998L 1.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 29 0 0 21 10 32.2581 SLC34A1 0 genome.wustl.edu 37 5 176815279 176815279 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 176815279 176815279 T C SNP SLC34A1 ENST00000324417 human ensembl 74_37 +1 known missense c.842 p.L281P 1.000 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 91 0 0 63 37 37 DDX41 0 genome.wustl.edu 37 5 176940358 176940358 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 176940358 176940358 A C SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known missense c.1226 p.I409S 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 112 0 0 82 42 33.871 ZFP2 0 genome.wustl.edu 37 5 178359024 178359024 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 178359024 178359024 C T SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known missense c.710 p.T237I 0.911 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 55 0 0 35 36 50.7042 ZNF354C 0 genome.wustl.edu 37 5 178506224 178506224 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 178506224 178506224 G T SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.791 p.R264I 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 ZNF354C HGNC ENSG00000177932 71 0 0 37 34 47.8873 ADAMTS2 0 genome.wustl.edu 37 5 178563003 178563003 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 178563003 178563003 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.1992 p.T664 0.008 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 122 0 0 72 47 39.4958 MAML1 0 genome.wustl.edu 37 5 179201504 179201504 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 179201504 179201504 A G SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known missense c.2677 p.M893V 0.988 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 37 0 0 25 13 34.2105 TRIM41 0 genome.wustl.edu 37 5 180661180 180661180 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 180661180 180661180 T G SNP TRIM41 ENST00000315073 human ensembl 74_37 +1 known missense c.1298 p.L433R 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,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 TRIM41 HGNC ENSG00000146063 98 0 0 54 26 32.5 CDH12 0 genome.wustl.edu 37 5 22078839 22078839 + RNA SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 22078839 22078839 A G SNP CDH12 ENST00000518209 human ensembl 74_37 -1 known rna NULL NULL 0.267 - - - no_errors CDH12 HGNC ENSG00000154162 24 0 0 13 9 40.9091 SDHA 0 genome.wustl.edu 37 5 230997 230997 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 230997 230997 C T SNP SDHA ENST00000264932 human ensembl 74_37 +1 known silent c.777 p.Y259 0.414 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 86 0 0 55 20 26.6667 SDHA 0 genome.wustl.edu 37 5 233669 233669 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 233669 233669 A G SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.973 p.R325G 0.984 pfam_FAD_bind_dom,superfamily_Succ_DH/fumarate_Rdtase_cat,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 165 0 0 113 66 36.8715 PRDM9 0 genome.wustl.edu 37 5 23527721 23527721 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 23527721 23527721 C T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.2524 p.R842C 0.053 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 165 0 0 77 37 32.4561 CDH9 0 genome.wustl.edu 37 5 26885830 26885830 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 26885830 26885830 T G SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1775 p.D592A 0.997 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 21 0 0 17 11 39.2857 PDZD2 0 genome.wustl.edu 37 5 31983496 31983496 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 31983496 31983496 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.712 p.A238T 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 96 0 0 56 34 37.7778 IRX1 0 genome.wustl.edu 37 5 3600734 3600734 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 3600734 3600734 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1324 p.V442I 0.960 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 132 0 0 87 9 9.375 SKP2 0 genome.wustl.edu 37 5 36182090 36182090 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 36182090 36182090 G A SNP SKP2 ENST00000274255 human ensembl 74_37 +1 known missense c.1232 p.G411D 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors SKP2 HGNC ENSG00000145604 46 0 0 34 17 33.3333 RICTOR 0 genome.wustl.edu 37 5 38963142 38963142 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 38963142 38963142 G A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known nonsense c.1402 p.R468* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 36 0 0 36 19 34.5455 FBXO4 0 genome.wustl.edu 37 5 41941319 41941319 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 41941319 41941319 T C SNP FBXO4 ENST00000281623 human ensembl 74_37 +1 known missense c.1100 p.L367P 0.504 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO4 HGNC ENSG00000151876 66 0 0 41 22 34.9206 FBXO4 0 genome.wustl.edu 37 5 41941337 41941337 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 41941337 41941337 G A SNP FBXO4 ENST00000281623 human ensembl 74_37 +1 known missense c.1118 p.G373D 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO4 HGNC ENSG00000151876 67 0 0 43 28 39.4366 ZNF131 0 genome.wustl.edu 37 5 43174881 43174881 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 43174881 43174881 C T SNP ZNF131 ENST00000399534 human ensembl 74_37 +1 known silent c.1518 p.S506 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 48 0 0 39 4 9.30233 ITGA2 0 genome.wustl.edu 37 5 52344542 52344542 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 52344542 52344542 T A SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.572 p.V191E 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 110 0 0 92 52 36.1111 SNX18 0 genome.wustl.edu 37 5 53814892 53814892 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 53814892 53814892 G A SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known silent c.1110 p.A370 0.834 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 46 0 0 18 17 48.5714 DHX29 0 genome.wustl.edu 37 5 54603263 54603263 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 54603263 54603263 T C SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known missense c.139 p.T47A 0.039 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 106 0 0 71 45 38.7931 SKIV2L2 0 genome.wustl.edu 37 5 54618225 54618225 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 54618225 54618225 G A SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.205 p.E69K 0.996 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 149 0 0 100 53 34.6405 ACTBL2 0 genome.wustl.edu 37 5 56778423 56778423 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 56778423 56778423 G A SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known missense c.112 p.R38C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 42 0 0 26 9 25.7143 KIF2A 0 genome.wustl.edu 37 5 61643000 61643000 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 61643000 61643000 T C SNP KIF2A ENST00000407818 human ensembl 74_37 +1 known silent c.108 p.N36 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 14 0 0 16 4 20 CARTPT 0 genome.wustl.edu 37 5 71015160 71015160 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 71015160 71015160 G A SNP CARTPT ENST00000296777 human ensembl 74_37 +1 known missense c.40 p.A14T 1.000 pfam_CART pfam_CART,superfamily_CART - no_errors CARTPT HGNC ENSG00000164326 107 0 0 51 26 33.7662 IQGAP2 0 genome.wustl.edu 37 5 75871586 75871586 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 75871586 75871586 C T SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known silent c.450 p.H150 0.593 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 55 0 0 40 17 29.8246 AP3B1 0 genome.wustl.edu 37 5 77334885 77334885 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 77334885 77334885 G A SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.2791 p.H931Y 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 32 0 0 19 18 48.6486 FASTKD3 0 genome.wustl.edu 37 5 7867738 7867738 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 7867738 7867738 T C SNP FASTKD3 ENST00000264669 human ensembl 74_37 -1 known missense c.459 p.I153M 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 66 0 0 44 29 39.726 THBS4 0 genome.wustl.edu 37 5 79366474 79366474 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 79366474 79366474 C T SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.1461 p.C487 0.998 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 118 0 0 79 44 35.7724 VCAN 0 genome.wustl.edu 37 5 82833213 82833213 + Missense_Mutation SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 82833213 82833213 C G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.4391 p.A1464G 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 99 0 0 54 32 37.2093 VCAN 0 genome.wustl.edu 37 5 82834710 82834710 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 82834710 82834710 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.5888 p.A1963V 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 64 0 0 38 30 44.1176 VCAN 0 genome.wustl.edu 37 5 82836247 82836247 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 82836247 82836247 A C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.7425 p.K2475N 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 103 0 0 49 45 47.8723 GPR98 0 genome.wustl.edu 37 5 90008129 90008129 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 90008129 90008129 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.9068 p.R3023M 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 8 0 0 5 5 50 GPR98 0 genome.wustl.edu 37 5 90119297 90119297 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 90119297 90119297 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.16252 p.V5418M 0.063 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 67 0 0 39 23 37.0968 ANKRD32 0 genome.wustl.edu 37 5 94024237 94024237 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 94024237 94024237 G A SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known silent c.2148 p.G716 0.987 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 96 0 0 50 21 29.5775 ARSK 0 genome.wustl.edu 37 5 94901772 94901772 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 94901772 94901772 G A SNP ARSK ENST00000380009 human ensembl 74_37 +1 known missense c.197 p.R66H 0.864 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 46 0 0 22 24 52.1739 RHOBTB3 0 genome.wustl.edu 37 5 95119641 95119641 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 95119641 95119641 A G SNP RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known missense c.1597 p.I533V 0.938 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 70 0 0 71 7 8.97436 ELL2 0 genome.wustl.edu 37 5 95234256 95234256 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 95234256 95234256 G A SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.1213 p.R405W 1.000 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 98 0 0 57 26 31.3253 SEC63 0 genome.wustl.edu 37 6 108214751 108214751 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 108214751 108214751 T C SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known missense c.1609 p.T537A 0.982 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 109 1 0.909091 118 20 14.4928 FOXO3 0 genome.wustl.edu 37 6 108985460 108985460 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 108985460 108985460 C T SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.1424 p.T475I 0.996 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 44 0 0 32 23 41.8182 ZBTB24 0 genome.wustl.edu 37 6 109787639 109787639 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 109787639 109787639 G A SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known silent c.1509 p.D503 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 98 0 0 75 39 34.2105 ZBTB24 0 genome.wustl.edu 37 6 109796613 109796613 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 109796613 109796613 C T SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.1277 p.R426Q 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 84 0 0 54 29 34.9398 TUBE1 0 genome.wustl.edu 37 6 112400892 112400892 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 112400892 112400892 G A SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known missense c.392 p.S131L 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 78 0 0 55 41 42.7083 ROS1 0 genome.wustl.edu 37 6 117642517 117642517 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 117642517 117642517 T A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.5682 p.E1894D 0.902 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 190 0 0 112 65 36.7232 ROS1 0 genome.wustl.edu 37 6 117662759 117662759 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 117662759 117662759 C T SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.4706 p.R1569Q 0.003 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 45 0 0 44 22 33.3333 NUS1 0 genome.wustl.edu 37 6 118014204 118014204 + Splice_Site SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 118014204 118014204 G T SNP NUS1 ENST00000368494 human ensembl 74_37 +1 known splice_site c.416-1 e2-1 1.000 - - - no_errors NUS1 HGNC ENSG00000153989 32 0 0 18 11 37.931 HSF2 0 genome.wustl.edu 37 6 122753116 122753116 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 122753116 122753116 C T SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known silent c.1362 p.L454 0.103 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 154 0 0 91 71 43.8272 LAMA2 0 genome.wustl.edu 37 6 129511427 129511427 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 129511427 129511427 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.1545 p.C515 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 48 0 0 29 24 45.283 MCUR1 0 genome.wustl.edu 37 6 13801587 13801587 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 13801587 13801587 G A SNP MCUR1 ENST00000379170 human ensembl 74_37 -1 known missense c.674 p.A225V 0.991 pfam_DUF1640 pfam_DUF1640 - no_errors MCUR1 HGNC ENSG00000050393 106 0 0 20 30 60 KIAA1244 0 genome.wustl.edu 37 6 138619829 138619829 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 138619829 138619829 T C SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.3735 p.N1245 0.008 pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 24 0 0 23 12 34.2857 LATS1 0 genome.wustl.edu 37 6 150004891 150004891 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 150004891 150004891 G A SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.1334 p.P445L 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 252 0 0 169 97 36.4662 NUP43 0 genome.wustl.edu 37 6 150067677 150067677 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 150067677 150067677 G A SNP NUP43 ENST00000367403 human ensembl 74_37 -1 known silent c.138 p.R46 0.829 NULL superfamily_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 65 0 0 42 32 43.2432 PLEKHG1 0 genome.wustl.edu 37 6 151161247 151161247 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 151161247 151161247 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.3373 p.A1125T 0.124 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 112 0 0 58 42 42 MTHFD1L 0 genome.wustl.edu 37 6 151355726 151355726 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 151355726 151355726 A G SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.2684 p.Y895C 1.000 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 41 0 0 26 15 36.5854 RMND1 0 genome.wustl.edu 37 6 151766824 151766824 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 151766824 151766824 G A SNP RMND1 ENST00000367303 human ensembl 74_37 -1 known silent c.123 p.C41 0.074 NULL pfam_DUF155 - no_errors RMND1 HGNC ENSG00000155906 93 0 0 54 34 38.6364 ARID1B 0 genome.wustl.edu 37 6 157528929 157528929 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 157528929 157528929 C T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known silent c.6774 p.H2258 1.000 superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 151 0 0 88 57 39.3103 TULP4 0 genome.wustl.edu 37 6 158924181 158924181 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 158924181 158924181 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.3486 p.D1162 0.995 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 117 0 0 74 41 35.6522 RSPH3 0 genome.wustl.edu 37 6 159401904 159401904 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 159401904 159401904 G A SNP RSPH3 ENST00000252655 human ensembl 74_37 -1 known missense c.1187 p.A396V 0.986 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 65 0 0 41 27 39.7059 SLC22A3 0 genome.wustl.edu 37 6 160864677 160864677 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 160864677 160864677 G A SNP SLC22A3 ENST00000392145 human ensembl 74_37 +1 known silent c.1416 p.S472 0.246 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A3 HGNC ENSG00000146477 57 0 0 29 16 35.5556 PACRG 0 genome.wustl.edu 37 6 163149154 163149154 + RNA SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 163149154 163149154 T C SNP PACRG ENST00000542669 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors PACRG HGNC ENSG00000112530 66 0 0 37 36 49.3151 UNC93A 0 genome.wustl.edu 37 6 167717522 167717522 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 167717522 167717522 G A SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known silent c.741 p.S247 0.675 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 91 0 0 51 28 35.443 TBP 0 genome.wustl.edu 37 6 170871058 170871058 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 170871058 170871058 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.234 p.Q78 0.998 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 46 0 0 36 4 10 RBM24 0 genome.wustl.edu 37 6 17292117 17292117 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 17292117 17292117 T C SNP RBM24 ENST00000379052 human ensembl 74_37 +1 known missense c.478 p.Y160H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM24 HGNC ENSG00000112183 80 0 0 21 42 66.6667 KDM1B 0 genome.wustl.edu 37 6 18161563 18161563 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 18161563 18161563 G A SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known silent c.93 p.K31 1.000 NULL pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 40 0 0 25 3 10.7143 MRS2 0 genome.wustl.edu 37 6 24412566 24412566 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 24412566 24412566 C T SNP MRS2 ENST00000443868 human ensembl 74_37 +1 known silent c.540 p.L180 0.911 NULL NULL - no_errors MRS2 HGNC ENSG00000124532 118 0 0 19 37 66.0714 LRRC16A 0 genome.wustl.edu 37 6 25606376 25606376 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 25606376 25606376 C T SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.3722 p.A1241V 0.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 48 0 0 21 11 34.375 SLC17A3 0 genome.wustl.edu 37 6 25845699 25845699 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 25845699 25845699 C T SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known missense c.1408 p.V470I 0.976 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 94 0 0 60 32 34.7826 HIST1H1T 0 genome.wustl.edu 37 6 26108248 26108248 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 26108248 26108248 C T SNP HIST1H1T ENST00000338379 human ensembl 74_37 -1 known missense c.74 p.R25Q 0.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1T HGNC ENSG00000187475 55 0 0 25 23 47.9167 HIST1H1T 0 genome.wustl.edu 37 6 26108309 26108309 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 26108309 26108309 C T SNP HIST1H1T ENST00000338379 human ensembl 74_37 -1 known missense c.13 p.V5M 0.002 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1T HGNC ENSG00000187475 43 0 0 28 18 39.1304 MRPS18B 0 genome.wustl.edu 37 6 30590656 30590656 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 30590656 30590656 C A SNP MRPS18B ENST00000259873 human ensembl 74_37 +1 known silent c.402 p.I134 1.000 pfam_Ribosomal_S18,superfamily_Ribosomal_S18 pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 53 0 0 39 17 30.3571 DDR1 0 genome.wustl.edu 37 6 30860096 30860096 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 30860096 30860096 G A SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known silent c.876 p.T292 0.067 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 45 0 0 34 17 33.3333 VARS2 0 genome.wustl.edu 37 6 30883960 30883960 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 30883960 30883960 G A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.695 p.R232Q 0.310 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 80 0 0 38 25 39.6825 DPCR1 0 genome.wustl.edu 37 6 30920773 30920773 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 30920773 30920773 G A SNP DPCR1 ENST00000304311 human ensembl 74_37 +1 known missense c.587 p.R196H 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 49 0 0 33 18 35.2941 NFKBIL1 0 genome.wustl.edu 37 6 31526079 31526079 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 31526079 31526079 C T SNP NFKBIL1 ENST00000376148 human ensembl 74_37 +1 known silent c.837 p.A279 0.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 12 0 0 8 3 27.2727 BAG6 0 genome.wustl.edu 37 6 31619438 31619438 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 31619438 31619438 C T SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known missense c.103 p.A35T 1.000 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 116 0 0 42 31 42.4658 MSH5 0 genome.wustl.edu 37 6 31715180 31715180 + Nonsense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 31715180 31715180 C A SNP MSH5 ENST00000375742 human ensembl 74_37 +1 known nonsense c.834 p.C278* 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 36 0 0 15 16 51.6129 TNXB 0 genome.wustl.edu 37 6 32020768 32020768 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 32020768 32020768 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8788 p.A2930T 0.769 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 59 0 0 26 12 31.5789 TNXB 0 genome.wustl.edu 37 6 32035444 32035444 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 32035444 32035444 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6538 p.V2180I 0.031 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 TNXB HGNC ENSG00000168477 47 0 0 24 14 36.8421 TNXB 0 genome.wustl.edu 37 6 32035620 32035620 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 32035620 32035620 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6362 p.R2121H 0.903 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 83 0 0 46 28 37.8378 TNXB 0 genome.wustl.edu 37 6 32063940 32063940 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 32063940 32063940 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known nonsense c.1690 p.R564* 0.995 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 15 0 0 6 5 45.4545 NOTCH4 0 genome.wustl.edu 37 6 32172014 32172014 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 32172014 32172014 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known silent c.3018 p.D1006 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 42 0 0 27 20 42.5532 HLA-DRA 0 genome.wustl.edu 37 6 32407731 32407731 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 32407731 32407731 G A SNP HLA-DRA ENST00000395388 human ensembl 74_37 +1 known missense c.4 p.A2T 0.908 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRA HGNC ENSG00000204287 37 0 0 53 4 7.01754 ITPR3 0 genome.wustl.edu 37 6 33634933 33634933 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 33634933 33634933 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.1579 p.R527C 0.997 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 138 0 0 69 27 28.125 ITPR3 0 genome.wustl.edu 37 6 33653503 33653503 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 33653503 33653503 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.5566 p.E1856K 0.996 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 83 0 0 51 26 33.7662 GRM4 0 genome.wustl.edu 37 6 34059859 34059859 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 34059859 34059859 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.537 p.Y179 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 66 0 0 32 23 41.8182 GRM4 0 genome.wustl.edu 37 6 34100766 34100766 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 34100766 34100766 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.508 p.R170C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 53 0 0 26 14 35 DUSP22 0 genome.wustl.edu 37 6 345898 345898 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 345898 345898 G A SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.233 p.R78Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 65 0 0 57 6 9.52381 SCUBE3 0 genome.wustl.edu 37 6 35214016 35214016 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 35214016 35214016 G A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.2834 p.R945Q 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 127 0 0 81 34 29.5652 PPARD 0 genome.wustl.edu 37 6 35392205 35392205 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 35392205 35392205 G A SNP PPARD ENST00000311565 human ensembl 74_37 +1 known missense c.727 p.V243M 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_1Cnucl_rcpt_B pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 62 0 0 45 20 30.7692 ARMC12 0 genome.wustl.edu 37 6 35704936 35704936 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 35704936 35704936 C T SNP ARMC12 ENST00000288065 human ensembl 74_37 +1 known silent c.51 p.S17 0.006 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 62 0 0 43 30 41.0959 KCTD20 0 genome.wustl.edu 37 6 36442765 36442765 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 36442765 36442765 G A SNP KCTD20 ENST00000373731 human ensembl 74_37 +1 known silent c.360 p.T120 0.002 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD20 HGNC ENSG00000112078 98 0 0 66 38 36.5385 CPNE5 0 genome.wustl.edu 37 6 36710078 36710078 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 36710078 36710078 C T SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known silent c.1749 p.T583 0.875 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 56 0 0 61 8 11.5942 ZFAND3 0 genome.wustl.edu 37 6 38120035 38120035 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 38120035 38120035 G A SNP ZFAND3 ENST00000287218 human ensembl 74_37 +1 known missense c.554 p.R185H 1.000 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Znf_AN1,pfam_Znf_A20,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND3 HGNC ENSG00000156639 158 0 0 91 60 39.7351 FAM50B 0 genome.wustl.edu 37 6 3850382 3850382 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 3850382 3850382 C T SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.337 p.R113C 0.000 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 18 0 0 12 14 53.8462 BTBD9 0 genome.wustl.edu 37 6 38548022 38548022 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 38548022 38548022 G A SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known missense c.1006 p.R336W 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 46 0 0 43 26 37.6812 GLO1 0 genome.wustl.edu 37 6 38654677 38654677 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 38654677 38654677 A T SNP GLO1 ENST00000373365 human ensembl 74_37 -1 known missense c.158 p.L53H 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 - no_errors GLO1 HGNC ENSG00000124767 51 0 0 35 25 41.6667 KCNK17 0 genome.wustl.edu 37 6 39267230 39267230 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 39267230 39267230 G A SNP KCNK17 ENST00000373231 human ensembl 74_37 -1 known silent c.972 p.H324 0.004 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK17 HGNC ENSG00000124780 43 0 0 25 12 32.4324 KCNK17 0 genome.wustl.edu 37 6 39267459 39267459 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 39267459 39267459 C A SNP KCNK17 ENST00000373231 human ensembl 74_37 -1 known missense c.743 p.W248L 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK17 HGNC ENSG00000124780 169 0 0 96 45 31.9149 KCNK16 0 genome.wustl.edu 37 6 39290200 39290200 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 39290200 39290200 C T SNP KCNK16 ENST00000425054 human ensembl 74_37 -1 known silent c.117 p.A39 0.007 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC ENSG00000095981 38 0 0 46 5 9.80392 DAAM2 0 genome.wustl.edu 37 6 39856480 39856480 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 39856480 39856480 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.2086 p.R696W 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 39 0 0 27 17 38.6364 C6orf201 0 genome.wustl.edu 37 6 4087803 4087803 + RNA SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 4087803 4087803 A T SNP C6orf201 ENST00000360378 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C6orf201 HGNC ENSG00000185689 126 0 0 80 64 44.4444 TREM1 0 genome.wustl.edu 37 6 41250435 41250435 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 41250435 41250435 T C SNP TREM1 ENST00000244709 human ensembl 74_37 -1 known missense c.104 p.Q35R 0.004 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub - no_errors TREM1 HGNC ENSG00000124731 126 0 0 74 50 40.3226 TRERF1 0 genome.wustl.edu 37 6 42236784 42236784 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 42236784 42236784 C T SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.545 p.R182H 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 115 0 0 99 6 5.71429 UBR2 0 genome.wustl.edu 37 6 42585024 42585024 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 42585024 42585024 G A SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.1229 p.R410Q 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 109 1 0.909091 58 40 40.8163 PRPH2 0 genome.wustl.edu 37 6 42689775 42689775 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 42689775 42689775 G A SNP PRPH2 ENST00000230381 human ensembl 74_37 -1 known missense c.298 p.P100S 0.678 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors PRPH2 HGNC ENSG00000112619 57 0 0 45 26 36.6197 CUL9 0 genome.wustl.edu 37 6 43153844 43153844 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 43153844 43153844 A G SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.902 p.E301G 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 75 0 0 85 5 5.55556 AARS2 0 genome.wustl.edu 37 6 44272877 44272877 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 44272877 44272877 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.1493 p.A498V 0.436 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 110 0 0 70 37 34.5794 RUNX2 0 genome.wustl.edu 37 6 45390581 45390581 + Nonsense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 45390581 45390581 G T SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known nonsense c.514 p.E172* 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 51 0 0 19 12 38.7097 PAQR8 0 genome.wustl.edu 37 6 52268150 52268150 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 52268150 52268150 C A SNP PAQR8 ENST00000360726 human ensembl 74_37 +1 known silent c.139 p.R47 1.000 NULL pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC ENSG00000170915 75 0 0 51 29 36.25 FBXO9 0 genome.wustl.edu 37 6 52957325 52957325 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 52957325 52957325 G A SNP FBXO9 ENST00000244426 human ensembl 74_37 +1 known missense c.782 p.R261Q 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO9 HGNC ENSG00000112146 80 0 0 49 48 49.4845 KIAA1586 0 genome.wustl.edu 37 6 56917539 56917539 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 56917539 56917539 T C SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.242 p.V81A 0.815 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 43 0 0 28 18 39.1304 ZNF451 0 genome.wustl.edu 37 6 57012049 57012049 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 57012049 57012049 G A SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known missense c.1166 p.R389Q 0.339 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 82 0 0 36 26 41.9355 KHDRBS2 0 genome.wustl.edu 37 6 62604604 62604604 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 62604604 62604604 C T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.746 p.G249E 0.975 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 74 0 0 35 32 47.7612 DDX43 0 genome.wustl.edu 37 6 74117732 74117732 + Nonsense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 74117732 74117732 A T SNP DDX43 ENST00000370336 human ensembl 74_37 +1 known nonsense c.1087 p.K363* 0.057 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 87 0 0 43 20 31.746 DSP 0 genome.wustl.edu 37 6 7565711 7565711 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 7565711 7565711 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.897 p.S299 0.777 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 49 0 0 51 4 7.27273 DSP 0 genome.wustl.edu 37 6 7578041 7578041 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 7578041 7578041 C A SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.2907 p.T969 0.976 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 109 0 0 69 50 42.0168 COL12A1 0 genome.wustl.edu 37 6 75799910 75799910 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 75799910 75799910 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.8857 p.A2953T 0.042 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 296 0 0 175 83 32.1705 COL12A1 0 genome.wustl.edu 37 6 75834938 75834938 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 75834938 75834938 A G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.6512 p.L2171S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 43 0 0 31 20 39.2157 COL12A1 0 genome.wustl.edu 37 6 75890672 75890672 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 75890672 75890672 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.2147 p.E716G 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 144 0 0 90 41 31.2977 MYO6 0 genome.wustl.edu 37 6 76623869 76623869 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 76623869 76623869 C T SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.3532 p.R1178C 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 167 0 0 99 58 36.9427 MYO6 0 genome.wustl.edu 37 6 76624686 76624686 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 76624686 76624686 G A SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.3818 p.R1273Q 0.997 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 35 0 0 15 9 37.5 IMPG1 0 genome.wustl.edu 37 6 76713645 76713645 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 76713645 76713645 G A SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known silent c.1158 p.A386 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 54 0 0 41 23 35.9375 TBX18 0 genome.wustl.edu 37 6 85447043 85447043 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 85447043 85447043 C T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1184 p.C395Y 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 94 0 0 41 26 38.806 TBX18 0 genome.wustl.edu 37 6 85473658 85473658 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 85473658 85473658 G A SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.242 p.A81V 0.946 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 9 0 0 9 6 40 AKIRIN2 0 genome.wustl.edu 37 6 88391420 88391420 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 88391420 88391420 T C SNP AKIRIN2 ENST00000257787 human ensembl 74_37 -1 known silent c.297 p.E99 1.000 NULL NULL - no_errors AKIRIN2 HGNC ENSG00000135334 26 0 0 21 8 27.5862 ZAN 0 genome.wustl.edu 37 7 100390105 100390105 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 100390105 100390105 C T SNP ZAN ENST00000546213 human ensembl 74_37 +1 known missense c.3038 p.T1013M 0.002 NULL pfam_VWF_type-D,pfam_TIL_dom,pfam_Unchr_dom_Cys-rich,pfam_EG-like_dom,superfamily_TIL_dom,smart_EG-like_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_EG-like_dom - no_errors ZAN HGNC ENSG00000146839 45 0 0 31 17 35.4167 EPHB4 0 genome.wustl.edu 37 7 100405135 100405135 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 100405135 100405135 C T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.2186 p.R729Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 132 0 0 46 42 47.7273 ORAI2 0 genome.wustl.edu 37 7 102087230 102087230 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 102087230 102087230 G C SNP ORAI2 ENST00000356387 human ensembl 74_37 +1 known missense c.496 p.V166L 1.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI2 HGNC ENSG00000160991 149 0 0 89 46 34.0741 LRRC17 0 genome.wustl.edu 37 7 102575025 102575025 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 102575025 102575025 C T SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known missense c.665 p.P222L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 45 0 0 35 19 35.1852 PSMC2 0 genome.wustl.edu 37 7 103004703 103004703 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 103004703 103004703 G A SNP PSMC2 ENST00000292644 human ensembl 74_37 +1 known silent c.705 p.A235 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 97 0 0 105 51 32.6923 RELN 0 genome.wustl.edu 37 7 103185661 103185661 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 103185661 103185661 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.6433 p.G2145R 1.000 pfam_EGF_extracell,superfamily_Sialidases,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 86 0 0 63 45 41.6667 RELN 0 genome.wustl.edu 37 7 103197465 103197465 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 103197465 103197465 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.5756 p.T1919I 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 167 0 0 118 88 42.7184 PUS7 0 genome.wustl.edu 37 7 105121515 105121515 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 105121515 105121515 T C SNP PUS7 ENST00000356362 human ensembl 74_37 -1 known missense c.1159 p.T387A 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 40 0 0 24 20 45.4545 ATXN7L1 0 genome.wustl.edu 37 7 105516905 105516905 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 105516905 105516905 G T SNP ATXN7L1 ENST00000419735 human ensembl 74_37 -1 known missense c.100 p.R34S 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 38 0 0 21 17 44.7368 PIK3CG 0 genome.wustl.edu 37 7 106508275 106508275 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 106508275 106508275 G A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.269 p.R90Q 0.003 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_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 PIK3CG HGNC ENSG00000105851 55 0 0 19 14 42.4242 LAMB1 0 genome.wustl.edu 37 7 107591745 107591745 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 107591745 107591745 A G SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.3317 p.M1106T 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 56 0 0 39 11 22 NRCAM 0 genome.wustl.edu 37 7 107872810 107872810 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 107872810 107872810 G A SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known silent c.387 p.R129 0.065 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 114 0 0 122 9 6.87023 IQUB 0 genome.wustl.edu 37 7 123142741 123142741 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 123142741 123142741 A G SNP IQUB ENST00000324698 human ensembl 74_37 -1 known silent c.933 p.I311 1.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 43 0 0 31 3 8.82353 SND1 0 genome.wustl.edu 37 7 127338982 127338982 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 127338982 127338982 C A SNP SND1 ENST00000354725 human ensembl 74_37 +1 known silent c.403 p.R135 1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 37 0 0 20 14 41.1765 LRRC4 0 genome.wustl.edu 37 7 127669747 127669747 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 127669747 127669747 C T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.947 p.R316Q 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 34 0 0 23 10 30.303 LRRC4 0 genome.wustl.edu 37 7 127669830 127669830 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 127669830 127669830 C T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known silent c.864 p.P288 0.041 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 56 0 0 35 12 25.5319 FAM71F1 0 genome.wustl.edu 37 7 128359088 128359088 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 128359088 128359088 C T SNP FAM71F1 ENST00000315184 human ensembl 74_37 +1 known missense c.638 p.T213M 1.000 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 132 0 0 73 38 34.2342 FLNC 0 genome.wustl.edu 37 7 128486812 128486812 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 128486812 128486812 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.4141 p.G1381R 0.997 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 61 0 0 41 17 29.3103 STRA8 0 genome.wustl.edu 37 7 134928082 134928082 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 134928082 134928082 C A SNP STRA8 ENST00000275764 human ensembl 74_37 +1 known silent c.339 p.S113 0.716 superfamily_bHLH_dom superfamily_bHLH_dom - no_errors STRA8 HGNC ENSG00000146857 44 0 0 48 24 33.3333 DGKI 0 genome.wustl.edu 37 7 137294333 137294333 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 137294333 137294333 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.1016 p.R339Q 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 35 0 0 28 22 44 BRAF 0 genome.wustl.edu 37 7 140534454 140534454 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 140534454 140534454 T C SNP BRAF ENST00000288602 human ensembl 74_37 -1 known silent c.459 p.Q153 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 106 0 0 89 62 41.0596 SSBP1 0 genome.wustl.edu 37 7 141438980 141438980 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 141438980 141438980 C A SNP SSBP1 ENST00000265304 human ensembl 74_37 +1 known missense c.14 p.P5H 0.999 NULL pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd - no_errors SSBP1 HGNC ENSG00000106028 111 0 0 73 47 39.1667 TAS2R40 0 genome.wustl.edu 37 7 142919509 142919509 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 142919509 142919509 C T SNP TAS2R40 ENST00000408947 human ensembl 74_37 +1 known missense c.338 p.A113V 0.973 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R40 HGNC ENSG00000221937 145 0 0 90 46 33.8235 FAM115C 0 genome.wustl.edu 37 7 143400364 143400364 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 143400364 143400364 G A SNP FAM115C ENST00000441159 human ensembl 74_37 +1 known missense c.277 p.V93M 0.000 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 101 0 0 64 18 21.9512 ARHGEF5 0 genome.wustl.edu 37 7 144068294 144068294 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 144068294 144068294 G A SNP ARHGEF5 ENST00000056217 human ensembl 74_37 +1 known missense c.3572 p.R1191H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 262 0 0 284 40 12.3457 CNTNAP2 0 genome.wustl.edu 37 7 147183036 147183036 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 147183036 147183036 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.1680 p.P560 1.000 pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 144 0 0 91 48 34.5324 ZNF783 0 genome.wustl.edu 37 7 148978785 148978785 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 148978785 148978785 C T SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.992 p.P331L 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 27 0 0 16 4 20 ZNF783 0 genome.wustl.edu 37 7 148979012 148979012 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 148979012 148979012 C T SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.1219 p.R407C 0.993 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 16 0 0 11 4 26.6667 KRBA1 0 genome.wustl.edu 37 7 149430494 149430494 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 149430494 149430494 C T SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known silent c.2448 p.L816 0.000 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 22 0 0 12 11 47.8261 SSPO 0 genome.wustl.edu 37 7 149485991 149485991 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 149485991 149485991 G A SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.989 - - - no_errors SSPO HGNC ENSG00000197558 40 0 0 15 15 50 AOC1 0 genome.wustl.edu 37 7 150554844 150554844 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 150554844 150554844 G A SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.1286 p.R429Q 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 62 0 0 28 36 56.25 SLC4A2 0 genome.wustl.edu 37 7 150771378 150771378 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 150771378 150771378 C T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.2788 p.R930W 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 116 0 0 47 33 41.25 KMT2C 0 genome.wustl.edu 37 7 151877839 151877839 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 151877839 151877839 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.7106 p.N2369S 0.630 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 52 0 0 44 30 40.5405 DPP6 0 genome.wustl.edu 37 7 154561207 154561207 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 154561207 154561207 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.964 p.R322C 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 41 0 0 27 23 46 HTR5A 0 genome.wustl.edu 37 7 154862986 154862986 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 154862986 154862986 C T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known missense c.377 p.T126M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 49 0 0 28 17 37.7778 INSIG1 0 genome.wustl.edu 37 7 155094088 155094088 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 155094088 155094088 C T SNP INSIG1 ENST00000340368 human ensembl 74_37 +1 known missense c.665 p.T222M 0.999 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG1 HGNC ENSG00000186480 55 0 0 28 22 44 CNPY1 0 genome.wustl.edu 37 7 155301697 155301697 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 155301697 155301697 C T SNP CNPY1 ENST00000321736 human ensembl 74_37 -1 putative silent c.36 p.T12 0.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY1 HGNC ENSG00000146910 78 0 0 58 33 36.2637 RBM33 0 genome.wustl.edu 37 7 155534589 155534589 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 155534589 155534589 G A SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.2126 p.R709H 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 126 0 0 99 55 35.7143 DNAJB6 0 genome.wustl.edu 37 7 157177650 157177650 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 157177650 157177650 T A SNP DNAJB6 ENST00000262177 human ensembl 74_37 +1 known missense c.568 p.S190T 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB6 HGNC ENSG00000105993 100 0 0 94 8 7.84314 PTPRN2 0 genome.wustl.edu 37 7 158109576 158109576 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 158109576 158109576 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.281 p.R94H 0.003 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 61 0 0 28 14 33.3333 ESYT2 0 genome.wustl.edu 37 7 158526907 158526907 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 158526907 158526907 C T SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known silent c.2673 p.A891 0.006 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors ESYT2 HGNC ENSG00000117868 50 0 0 25 17 40.4762 MACC1 0 genome.wustl.edu 37 7 20197933 20197933 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 20197933 20197933 A T SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known missense c.2051 p.I684N 0.000 superfamily_DEATH-like_dom pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 47 0 0 40 14 25.9259 SP4 0 genome.wustl.edu 37 7 21469089 21469089 + Nonsense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 21469089 21469089 G A SNP SP4 ENST00000222584 human ensembl 74_37 +1 known nonsense c.306 p.W102* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 74 0 0 41 24 36.9231 RAPGEF5 0 genome.wustl.edu 37 7 22233548 22233548 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 22233548 22233548 G A SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.641 p.A214V 0.010 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 260 0 0 175 71 28.8618 GPNMB 0 genome.wustl.edu 37 7 23300296 23300296 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 23300296 23300296 A G SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known missense c.922 p.T308A 1.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 162 0 0 111 56 33.5329 TTYH3 0 genome.wustl.edu 37 7 2687534 2687534 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 2687534 2687534 C T SNP TTYH3 ENST00000403167 human ensembl 74_37 +1 known missense c.55 p.R19C 0.000 NULL pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 31 0 0 14 13 48.1481 GHRHR 0 genome.wustl.edu 37 7 31013640 31013640 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 31013640 31013640 C T SNP GHRHR ENST00000326139 human ensembl 74_37 +1 known missense c.638 p.T213I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1 - no_errors GHRHR HGNC ENSG00000106128 122 0 0 66 54 45 RP9P 0 genome.wustl.edu 37 7 32956879 32956879 + RNA SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 32956879 32956879 C A SNP RP9P ENST00000381639 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP9P HGNC ENSG00000205763 87 0 0 16 56 77.7778 DPY19L2P1 0 genome.wustl.edu 37 7 35131521 35131521 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 35131521 35131521 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 61 0 0 59 7 10.6061 SDK1 0 genome.wustl.edu 37 7 4050642 4050642 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 4050642 4050642 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2176 p.T726A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 55 0 0 20 13 39.3939 GLI3 0 genome.wustl.edu 37 7 42005852 42005852 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 42005852 42005852 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2819 p.P940L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 40 0 0 23 15 39.4737 SDK1 0 genome.wustl.edu 37 7 4247845 4247845 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 4247845 4247845 A C SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.5329 p.S1777R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 63 0 0 24 23 48.9362 HECW1 0 genome.wustl.edu 37 7 43503275 43503275 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 43503275 43503275 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known nonsense c.2668 p.R890* 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 86 0 0 53 24 31.1688 URGCP 0 genome.wustl.edu 37 7 43916923 43916923 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 43916923 43916923 A G SNP URGCP ENST00000453200 human ensembl 74_37 -1 known silent c.2139 p.F713 1.000 superfamily_P-loop_NTPase,prints_GTP_binding_domain superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 76 0 0 39 23 37.0968 PGAM2 0 genome.wustl.edu 37 7 44105054 44105054 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 44105054 44105054 C T SNP PGAM2 ENST00000297283 human ensembl 74_37 -1 known nonsense c.75 p.W25* 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM2 HGNC ENSG00000164708 84 0 0 45 33 42.3077 GCK 0 genome.wustl.edu 37 7 44186118 44186118 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 44186118 44186118 G A SNP GCK ENST00000345378 human ensembl 74_37 -1 known silent c.966 p.S322 0.022 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 82 0 0 32 30 48.3871 GCK 0 genome.wustl.edu 37 7 44193002 44193002 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 44193002 44193002 G A SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.109 p.R37W 0.957 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 240 0 0 129 78 37.6812 NPC1L1 0 genome.wustl.edu 37 7 44578499 44578499 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 44578499 44578499 C T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known silent c.1497 p.T499 0.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 80 0 0 47 35 42.6829 IGFBP1 0 genome.wustl.edu 37 7 45928424 45928424 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 45928424 45928424 G T SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known missense c.173 p.G58V 1.000 pfam_IGFBP-like,smart_IGFBP-like pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 8 0 0 4 3 42.8571 TNRC18 0 genome.wustl.edu 37 7 5372608 5372608 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 5372608 5372608 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.5792 p.R1931Q 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 14 0 0 2 4 66.6667 EGFR 0 genome.wustl.edu 37 7 55238900 55238900 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 55238900 55238900 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.1913 p.T638M 0.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 67 0 0 36 16 30.7692 ZNF716 0 genome.wustl.edu 37 7 57522222 57522222 + Nonsense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 57522222 57522222 C A SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known nonsense c.96 p.C32* 0.071 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 52 0 0 30 17 36.1702 RNF216 0 genome.wustl.edu 37 7 5781254 5781254 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 5781254 5781254 C T SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.394 p.G132S 0.019 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 139 0 0 89 49 35.5072 DAGLB 0 genome.wustl.edu 37 7 6449620 6449620 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 6449620 6449620 C T SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.1867 p.E623K 0.985 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 69 0 0 52 38 42.2222 DAGLB 0 genome.wustl.edu 37 7 6456287 6456287 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 6456287 6456287 G A SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known silent c.1398 p.Y466 0.949 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 116 0 0 74 49 39.8374 WBSCR17 0 genome.wustl.edu 37 7 70597962 70597962 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 70597962 70597962 C A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.174 p.P58 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 43 0 0 20 16 44.4444 TYW1B 0 genome.wustl.edu 37 7 72267523 72267523 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 72267523 72267523 G A SNP TYW1B ENST00000438904 human ensembl 74_37 -1 known silent c.738 p.F246 0.650 NULL pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1B HGNC ENSG00000254184 54 0 0 51 4 7.27273 STX1A 0 genome.wustl.edu 37 7 73118587 73118587 + Splice_Site SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 73118587 73118587 C T SNP STX1A ENST00000222812 human ensembl 74_37 -1 known splice_site c.358-1 e6-1 1.000 - - - no_errors STX1A HGNC ENSG00000106089 41 0 0 23 18 43.9024 CLDN3 0 genome.wustl.edu 37 7 73184217 73184217 + Missense_Mutation SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 73184217 73184217 C G SNP CLDN3 ENST00000395145 human ensembl 74_37 -1 known missense c.163 p.V55L 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin3 - no_errors CLDN3 HGNC ENSG00000165215 60 0 0 38 24 38.7097 LIMK1 0 genome.wustl.edu 37 7 73535598 73535598 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 73535598 73535598 C T SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known silent c.1911 p.S637 0.988 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 24 0 0 16 6 27.2727 POM121C 0 genome.wustl.edu 37 7 75070845 75070845 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 75070845 75070845 G A SNP POM121C ENST00000257665 human ensembl 74_37 -1 known missense c.656 p.P219L 0.392 NULL NULL - no_errors POM121C HGNC ENSG00000135213 14 0 0 9 9 50 RHBDD2 0 genome.wustl.edu 37 7 75511493 75511493 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 75511493 75511493 G A SNP RHBDD2 ENST00000006777 human ensembl 74_37 +1 known silent c.525 p.S175 0.003 pfam_Peptidase_S54_rhomboid_dom pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD2 HGNC ENSG00000005486 33 0 0 49 5 9.25926 GRM3 0 genome.wustl.edu 37 7 86469103 86469103 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 86469103 86469103 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.2273 p.T758M 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,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 74 0 0 46 29 38.6667 ABCB4 0 genome.wustl.edu 37 7 87092178 87092178 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 87092178 87092178 G A SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.182 p.T61I 0.994 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 38 0 0 37 28 43.0769 ABCB1 0 genome.wustl.edu 37 7 87150160 87150160 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 87150160 87150160 G A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known silent c.2718 p.T906 0.995 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 64 0 0 42 25 37.3134 AKAP9 0 genome.wustl.edu 37 7 91708607 91708607 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 91708607 91708607 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.7196 p.Q2399R 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 98 0 0 51 34 40 AKAP9 0 genome.wustl.edu 37 7 91712892 91712892 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 91712892 91712892 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.8605 p.H2869Y 0.092 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 45 0 0 29 21 42 ANKIB1 0 genome.wustl.edu 37 7 91936795 91936795 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 91936795 91936795 C T SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known missense c.311 p.A104V 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 94 0 0 62 34 35.4167 PEG10 0 genome.wustl.edu 37 7 94293052 94293052 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 94293052 94293052 C T SNP PEG10 ENST00000482108 human ensembl 74_37 +1 known missense c.184 p.R62C 0.035 NULL pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PEG10 HGNC ENSG00000242265 18 0 0 14 4 22.2222 DLX5 0 genome.wustl.edu 37 7 96650268 96650268 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 96650268 96650268 G A SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known missense c.650 p.S217L 1.000 NULL pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 64 0 0 28 23 45.098 LMTK2 0 genome.wustl.edu 37 7 97800879 97800879 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 97800879 97800879 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.684 p.S228 0.002 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 103 0 0 52 27 34.1772 TECPR1 0 genome.wustl.edu 37 7 97850995 97850995 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 97850995 97850995 C T SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known silent c.3141 p.S1047 0.000 pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 71 0 0 32 17 34.6939 TRRAP 0 genome.wustl.edu 37 7 98490105 98490105 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 98490105 98490105 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.320 p.R107H 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 85 0 0 57 35 38.0435 SMURF1 0 genome.wustl.edu 37 7 98636091 98636091 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 98636091 98636091 G A SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known silent c.1686 p.F562 0.988 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 44 0 0 40 20 33.3333 SMURF1 0 genome.wustl.edu 37 7 98655069 98655069 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 98655069 98655069 A C SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known missense c.309 p.N103K 0.989 superfamily_C2_dom,smart_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 67 0 0 38 33 46.4789 COPS6 0 genome.wustl.edu 37 7 99688088 99688088 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 99688088 99688088 C T SNP COPS6 ENST00000303904 human ensembl 74_37 +1 known missense c.401 p.S134L 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS6 HGNC ENSG00000168090 45 0 0 36 20 35.7143 RGS22 0 genome.wustl.edu 37 8 101051172 101051172 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 101051172 101051172 C T SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.2153 p.C718Y 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 34 0 0 47 11 18.9655 FBXO43 0 genome.wustl.edu 37 8 101146187 101146187 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 101146187 101146187 A G SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.1970 p.L657P 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 86 0 0 89 39 30.4688 GRHL2 0 genome.wustl.edu 37 8 102678915 102678915 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 102678915 102678915 C T SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known missense c.1862 p.T621M 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 48 0 0 53 27 33.75 UBR5 0 genome.wustl.edu 37 8 103323682 103323682 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 103323682 103323682 G T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.2461 p.P821T 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 104 1 0.952381 88 46 34.3284 DCSTAMP 0 genome.wustl.edu 37 8 105360884 105360884 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 105360884 105360884 T C SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.104 p.V35A 0.003 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 118 0 0 115 43 27.2152 DCSTAMP 0 genome.wustl.edu 37 8 105368454 105368454 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 105368454 105368454 C T SNP DCSTAMP ENST00000518051 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors DCSTAMP HGNC ENSG00000164935 21 0 0 27 7 20.5882 LRP12 0 genome.wustl.edu 37 8 105509257 105509257 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 105509257 105509257 A G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1466 p.L489P 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 75 0 0 71 18 20.2247 SOX7 0 genome.wustl.edu 37 8 10583281 10583281 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 10583281 10583281 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known silent c.1290 p.T430 0.030 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 46 0 0 58 13 18.3099 SOX7 0 genome.wustl.edu 37 8 10690428 10690428 + Nonsense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 10690428 10690428 C A SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known nonsense c.196 p.G66* 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 32 0 0 17 7 29.1667 PKHD1L1 0 genome.wustl.edu 37 8 110408347 110408347 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 110408347 110408347 C T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.903 p.P301 0.993 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 14 0 0 24 5 17.2414 KCNV1 0 genome.wustl.edu 37 8 110980553 110980553 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 110980553 110980553 G A SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.1267 p.P423S 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 80 0 0 68 30 30.6122 CSMD3 0 genome.wustl.edu 37 8 113318290 113318290 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 113318290 113318290 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8017 p.V2673I 0.666 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 124 0 0 154 69 30.9417 EXT1 0 genome.wustl.edu 37 8 118830694 118830694 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 118830694 118830694 C T SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1612 p.V538I 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 142 0 0 161 48 22.9665 FAM86B1 0 genome.wustl.edu 37 8 12042911 12042911 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 12042911 12042911 G A SNP FAM86B1 ENST00000448228 human ensembl 74_37 -1 known missense c.764 p.T255M 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B1 HGNC ENSG00000186523 134 0 0 85 38 30.8943 ENPP2 0 genome.wustl.edu 37 8 120612982 120612982 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 120612982 120612982 A G SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.908 p.V303A 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 79 0 0 74 20 21.2766 DEPTOR 0 genome.wustl.edu 37 8 121015280 121015280 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 121015280 121015280 C T SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known silent c.855 p.G285 1.000 NULL pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 16 0 0 17 6 26.087 ATAD2 0 genome.wustl.edu 37 8 124382182 124382182 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 124382182 124382182 A G SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.810 p.D270 0.909 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 25 0 0 28 16 36.3636 FBXO32 0 genome.wustl.edu 37 8 124518695 124518695 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 124518695 124518695 G A SNP FBXO32 ENST00000517956 human ensembl 74_37 -1 known silent c.771 p.H257 0.058 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXO32 HGNC ENSG00000156804 59 0 0 57 19 25 MTSS1 0 genome.wustl.edu 37 8 125565529 125565529 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 125565529 125565529 T C SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.1972 p.T658A 0.000 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 73 0 0 99 28 22.0472 LONRF1 0 genome.wustl.edu 37 8 12594270 12594270 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 12594270 12594270 T A SNP LONRF1 ENST00000398246 human ensembl 74_37 -1 known missense c.1391 p.Y464F 0.571 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 98 0 0 102 34 25 KIAA0196 0 genome.wustl.edu 37 8 126044624 126044624 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 126044624 126044624 C T SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.3194 p.R1065Q 0.994 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 89 0 0 79 21 21 MYC 0 genome.wustl.edu 37 8 128750777 128750777 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 128750777 128750777 G A SNP MYC ENST00000377970 human ensembl 74_37 +1 known missense c.314 p.G105D 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 38 0 0 33 12 26.6667 ADCY8 0 genome.wustl.edu 37 8 131792669 131792669 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 131792669 131792669 C A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.3723 p.Q1241H 0.723 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 106 0 0 97 30 23.622 DLC1 0 genome.wustl.edu 37 8 13357421 13357421 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 13357421 13357421 G A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.160 p.R54C 0.998 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 229 0 0 234 70 23.0263 ZFAT 0 genome.wustl.edu 37 8 135521887 135521887 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 135521887 135521887 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.3467 p.P1156L 0.992 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 87 0 0 110 36 24.6575 COL22A1 0 genome.wustl.edu 37 8 139703108 139703108 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 139703108 139703108 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.2764 p.G922R 1.000 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 29 0 0 27 12 30.7692 AGO2 0 genome.wustl.edu 37 8 141561492 141561492 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 141561492 141561492 C T SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1313 p.R438Q 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 121 1 0.819672 128 38 22.8916 PTK2 0 genome.wustl.edu 37 8 141889676 141889676 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 141889676 141889676 G A SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.256 p.R86C 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 273 0 0 327 111 25.3425 DENND3 0 genome.wustl.edu 37 8 142178549 142178549 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 142178549 142178549 A G SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.1960 p.M654V 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 79 0 0 90 28 23.7288 SLC45A4 0 genome.wustl.edu 37 8 142222398 142222398 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 142222398 142222398 C T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.2199 p.P733 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 32 0 0 31 9 22.5 SLC45A4 0 genome.wustl.edu 37 8 142222470 142222470 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 142222470 142222470 C T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.2127 p.T709 0.224 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 58 0 0 65 16 19.7531 JRK 0 genome.wustl.edu 37 8 143745980 143745980 + RNA SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 143745980 143745980 C T SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.194 - - - no_errors JRK HGNC ENSG00000234616 11 0 0 14 7 33.3333 CYP11B2 0 genome.wustl.edu 37 8 143996616 143996616 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 143996616 143996616 A T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.441 p.D147E 0.650 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 37 0 0 38 4 9.52381 TOP1MT 0 genome.wustl.edu 37 8 144397975 144397975 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 144397975 144397975 T C SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.1475 p.E492G 0.991 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 54 0 0 47 23 32.8571 RHPN1 0 genome.wustl.edu 37 8 144463997 144463997 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 144463997 144463997 C T SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known silent c.1656 p.G552 0.001 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 18 0 0 32 9 21.9512 SCRIB 0 genome.wustl.edu 37 8 144885638 144885638 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 144885638 144885638 G A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.3518 p.A1173V 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 18 0 0 22 5 18.5185 EPPK1 0 genome.wustl.edu 37 8 144945127 144945127 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 144945127 144945127 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.2295 p.K765 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 134 0 0 147 37 20.1087 PLEC 0 genome.wustl.edu 37 8 144991738 144991738 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 144991738 144991738 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.12662 p.S4221L 0.003 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 102 0 0 71 36 33.6449 PLEC 0 genome.wustl.edu 37 8 144998487 144998487 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 144998487 144998487 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.6021 p.A2007 0.062 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 26 0 0 23 8 25.8065 PARP10 0 genome.wustl.edu 37 8 145051982 145051982 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 145051982 145051982 C T SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known silent c.2748 p.K916 0.998 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 18 0 0 18 8 30.7692 PARP10 0 genome.wustl.edu 37 8 145059956 145059956 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 145059956 145059956 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known silent c.369 p.C123 0.345 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 69 0 0 46 13 22.0339 OPLAH 0 genome.wustl.edu 37 8 145113475 145113475 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 145113475 145113475 C A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.707 p.C236F 1.000 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 51 0 0 35 12 25.5319 CPSF1 0 genome.wustl.edu 37 8 145623706 145623706 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 145623706 145623706 C T SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.1880 p.R627H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 100 0 0 90 33 26.8293 SLC39A4 0 genome.wustl.edu 37 8 145640738 145640738 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 145640738 145640738 G A SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known silent c.540 p.G180 0.001 NULL pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 15 0 0 17 3 15 MFSD3 0 genome.wustl.edu 37 8 145735316 145735316 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 145735316 145735316 C A SNP MFSD3 ENST00000301327 human ensembl 74_37 +1 known silent c.600 p.P200 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD3 HGNC ENSG00000167700 14 0 0 12 4 25 ARHGAP39 0 genome.wustl.edu 37 8 145757727 145757727 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 145757727 145757727 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known nonsense c.2942 p.W981* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 36 0 0 44 19 30.1587 MTMR7 0 genome.wustl.edu 37 8 17198880 17198880 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 17198880 17198880 G A SNP MTMR7 ENST00000180173 human ensembl 74_37 -1 known missense c.724 p.R242W 0.984 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR7 HGNC ENSG00000003987 51 0 0 51 12 19.0476 PCM1 0 genome.wustl.edu 37 8 17810569 17810569 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 17810569 17810569 C T SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.1162 p.R388C 0.997 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 20 0 0 18 5 21.7391 ARHGEF10 0 genome.wustl.edu 37 8 1876637 1876637 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 1876637 1876637 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.2817 p.S939 0.054 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 155 0 0 163 63 27.8761 ARHGEF10 0 genome.wustl.edu 37 8 1900959 1900959 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 1900959 1900959 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.3561 p.P1187 0.255 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 70 0 0 83 28 25.2252 SLC18A1 0 genome.wustl.edu 37 8 20036930 20036930 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 20036930 20036930 C T SNP SLC18A1 ENST00000276373 human ensembl 74_37 -1 known missense c.190 p.G64S 0.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 73 0 0 71 21 22.8261 MYOM2 0 genome.wustl.edu 37 8 2017398 2017398 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 2017398 2017398 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.655 p.A219T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 30 0 0 24 18 42.8571 HR 0 genome.wustl.edu 37 8 21977305 21977305 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 21977305 21977305 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.2945 p.R982H 0.022 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 60 0 0 45 18 28.5714 LGI3 0 genome.wustl.edu 37 8 22006340 22006340 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 22006340 22006340 C T SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.980 p.R327H 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 47 0 0 33 16 32.6531 PHYHIP 0 genome.wustl.edu 37 8 22079224 22079224 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 22079224 22079224 C T SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known missense c.635 p.R212H 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 25 0 0 30 4 11.7647 PIWIL2 0 genome.wustl.edu 37 8 22175773 22175773 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 22175773 22175773 A T SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.2388 p.L796F 0.999 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 73 0 0 91 5 5.20833 SORBS3 0 genome.wustl.edu 37 8 22424653 22424653 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 22424653 22424653 G A SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.1270 p.G424S 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 92 0 0 77 35 31.25 SORBS3 0 genome.wustl.edu 37 8 22428603 22428603 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 22428603 22428603 C T SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.1612 p.R538C 0.006 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 57 0 0 56 24 30 EGR3 0 genome.wustl.edu 37 8 22548121 22548121 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 22548121 22548121 C T SNP EGR3 ENST00000317216 human ensembl 74_37 -1 known silent c.1029 p.A343 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 132 0 0 109 36 24.8276 RHOBTB2 0 genome.wustl.edu 37 8 22864803 22864803 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 22864803 22864803 G A SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1045 p.E349K 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 63 0 0 59 22 27.1605 CHMP7 0 genome.wustl.edu 37 8 23106740 23106740 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 23106740 23106740 G A SNP CHMP7 ENST00000313219 human ensembl 74_37 +1 known missense c.317 p.R106Q 1.000 NULL pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 65 0 0 83 30 26.5487 LOXL2 0 genome.wustl.edu 37 8 23159567 23159567 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 23159567 23159567 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known silent c.2106 p.D702 0.981 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 49 0 0 57 27 32.1429 PPP2R2A 0 genome.wustl.edu 37 8 26218507 26218507 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 26218507 26218507 T C SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known silent c.477 p.P159 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 82 0 0 97 27 21.7742 PTK2B 0 genome.wustl.edu 37 8 27301752 27301752 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 27301752 27301752 G A SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known silent c.2178 p.P726 0.968 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 68 0 0 62 25 28.7356 CSMD1 0 genome.wustl.edu 37 8 3081363 3081363 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 3081363 3081363 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4375 p.P1459T 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 CSMD1 HGNC ENSG00000183117 36 0 0 46 19 29.2308 CSMD1 0 genome.wustl.edu 37 8 3141845 3141845 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 3141845 3141845 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.3977 p.T1326M 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 CSMD1 HGNC ENSG00000183117 43 0 0 37 10 21.2766 CSMD1 0 genome.wustl.edu 37 8 3224649 3224649 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 3224649 3224649 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.3023 p.T1008M 0.821 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 CSMD1 HGNC ENSG00000183117 21 0 0 25 15 37.5 KCNU1 0 genome.wustl.edu 37 8 36691163 36691163 + Missense_Mutation SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 36691163 36691163 C G SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.1198 p.L400V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 49 0 0 49 7 12.5 KCNU1 0 genome.wustl.edu 37 8 36793082 36793082 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 36793082 36793082 C A SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.3094 p.L1032I 0.101 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 100 0 0 99 48 32.6531 BRF2 0 genome.wustl.edu 37 8 37702233 37702233 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 37702233 37702233 T C SNP BRF2 ENST00000220659 human ensembl 74_37 -1 known silent c.1035 p.L345 0.000 NULL pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 45 0 0 38 19 33.3333 BRF2 0 genome.wustl.edu 37 8 37702549 37702549 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 37702549 37702549 G A SNP BRF2 ENST00000220659 human ensembl 74_37 -1 known missense c.719 p.A240V 0.000 superfamily_Cyclin-like pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 47 0 0 32 15 31.9149 RAB11FIP1 0 genome.wustl.edu 37 8 37729779 37729779 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 37729779 37729779 G A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known silent c.2541 p.N847 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 63 0 0 79 29 26.8519 CSMD1 0 genome.wustl.edu 37 8 3855509 3855509 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 3855509 3855509 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.734 p.T245I 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 CSMD1 HGNC ENSG00000183117 18 0 0 11 4 26.6667 ANK1 0 genome.wustl.edu 37 8 41519420 41519420 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 41519420 41519420 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.5518 p.A1840T 0.002 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 68 0 0 74 22 22.9167 KAT6A 0 genome.wustl.edu 37 8 41792210 41792210 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 41792210 41792210 A T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.3528 p.S1176R 0.995 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 131 0 0 126 58 31.5217 KAT6A 0 genome.wustl.edu 37 8 41906068 41906068 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 41906068 41906068 A C SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.428 p.F143C 1.000 smart_Histone_H1/H5_H15 pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 47 0 0 39 25 39.0625 SLC20A2 0 genome.wustl.edu 37 8 42294547 42294547 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 42294547 42294547 C T SNP SLC20A2 ENST00000342228 human ensembl 74_37 -1 known missense c.1483 p.A495T 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 42 0 0 56 13 18.8406 RNF170 0 genome.wustl.edu 37 8 42716955 42716955 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 42716955 42716955 T C SNP RNF170 ENST00000527424 human ensembl 74_37 -1 known missense c.440 p.Q147R 1.000 NULL pfam_DUF1232,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF170 HGNC ENSG00000120925 50 0 0 52 26 33.3333 PRKDC 0 genome.wustl.edu 37 8 48776075 48776075 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 48776075 48776075 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.5632 p.V1878M 0.993 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 116 0 0 121 45 27.1084 PXDNL 0 genome.wustl.edu 37 8 52321350 52321350 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 52321350 52321350 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2834 p.A945V 0.373 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 28 0 0 17 4 19.0476 FAM110B 0 genome.wustl.edu 37 8 59059293 59059293 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 59059293 59059293 G A SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known silent c.504 p.T168 0.938 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 24 0 0 28 14 33.3333 CHD7 0 genome.wustl.edu 37 8 61734586 61734586 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 61734586 61734586 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known nonsense c.2839 p.R947* 1.000 superfamily_P-loop_NTPase,pfscan_Chromo_domain/shadow pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 24 0 0 43 9 17.3077 CHD7 0 genome.wustl.edu 37 8 61769311 61769311 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 61769311 61769311 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.7472 p.R2491H 0.997 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 154 0 0 141 52 26.943 CHD7 0 genome.wustl.edu 37 8 61777841 61777841 + Silent SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 61777841 61777841 A C SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.8343 p.T2781 0.990 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 21 0 0 12 2 14.2857 YTHDF3 0 genome.wustl.edu 37 8 64098806 64098806 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 64098806 64098806 T C SNP YTHDF3 ENST00000539294 human ensembl 74_37 +1 known silent c.234 p.A78 0.963 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF3 HGNC ENSG00000185728 28 0 0 39 13 25 BHLHE22 0 genome.wustl.edu 37 8 65493427 65493427 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 65493427 65493427 C T SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known missense c.80 p.T27I 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 10 0 0 11 3 21.4286 BHLHE22 0 genome.wustl.edu 37 8 65494354 65494354 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 65494354 65494354 C T SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known missense c.1007 p.P336L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 13 0 0 9 6 40 DNAJC5B 0 genome.wustl.edu 37 8 66989096 66989096 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 66989096 66989096 C A SNP DNAJC5B ENST00000276570 human ensembl 74_37 +1 known missense c.321 p.S107R 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5B HGNC ENSG00000147570 84 0 0 83 31 27.193 PRDM14 0 genome.wustl.edu 37 8 70981995 70981995 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 70981995 70981995 G A SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known missense c.101 p.P34L 0.003 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 15 0 0 23 3 11.5385 NCOA2 0 genome.wustl.edu 37 8 71074996 71074996 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 71074996 71074996 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.926 p.A309V 0.219 superfamily_PAS,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 112 0 0 108 42 28 TRAM1 0 genome.wustl.edu 37 8 71495950 71495950 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 71495950 71495950 G A SNP TRAM1 ENST00000262213 human ensembl 74_37 -1 known silent c.825 p.G275 0.999 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1 HGNC ENSG00000067167 118 0 0 139 39 21.9101 EYA1 0 genome.wustl.edu 37 8 72127878 72127878 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 72127878 72127878 G A SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known silent c.1446 p.A482 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 92 0 0 84 27 24.3243 TRPA1 0 genome.wustl.edu 37 8 72964968 72964968 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 72964968 72964968 G A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.1677 p.G559 0.990 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 106 0 0 106 33 23.741 ZFHX4 0 genome.wustl.edu 37 8 77767850 77767850 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 77767850 77767850 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8693 p.R2898H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 38 0 0 54 18 25 SGK223 0 genome.wustl.edu 37 8 8235431 8235431 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 8235431 8235431 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.488 p.G163D 0.941 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 108 0 0 112 32 22.2222 RALYL 0 genome.wustl.edu 37 8 85799864 85799864 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 85799864 85799864 G C SNP RALYL ENST00000521268 human ensembl 74_37 +1 known missense c.711 p.E237D 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 87 0 0 82 34 29.3103 LRRCC1 0 genome.wustl.edu 37 8 86021867 86021867 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 86021867 86021867 G A SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.142 p.V48I 0.996 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 23 0 0 21 6 22.2222 DCAF4L2 0 genome.wustl.edu 37 8 88886149 88886149 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 88886149 88886149 C A SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.51 p.K17N 0.019 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 63 0 0 51 18 26.087 OSGIN2 0 genome.wustl.edu 37 8 90937019 90937019 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 90937019 90937019 G A SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known silent c.909 p.A303 0.994 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 62 0 0 72 22 23.4043 FAM92A1 0 genome.wustl.edu 37 8 94713478 94713478 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 94713478 94713478 C T SNP FAM92A1 ENST00000518322 human ensembl 74_37 +1 known missense c.53 p.T18I 1.000 pfam_FAM92 pfam_FAM92 - no_errors FAM92A1 HGNC ENSG00000188343 22 0 0 14 9 39.1304 INTS8 0 genome.wustl.edu 37 8 95837126 95837126 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 95837126 95837126 G A SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.136 p.A46T 0.993 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 50 0 0 49 14 22.2222 TNKS 0 genome.wustl.edu 37 8 9627729 9627729 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 9627729 9627729 A G SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.3854 p.N1285S 1.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 50 0 0 53 15 22.0588 TNKS 0 genome.wustl.edu 37 8 9627753 9627753 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 9627753 9627753 T C SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.3878 p.V1293A 1.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 33 0 0 43 10 18.8679 SDC2 0 genome.wustl.edu 37 8 97614732 97614732 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 97614732 97614732 G T SNP SDC2 ENST00000302190 human ensembl 74_37 +1 known missense c.282 p.Q94H 0.973 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC2 HGNC ENSG00000169439 85 0 0 87 33 27.5 OR13C4 0 genome.wustl.edu 37 9 107289041 107289041 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 107289041 107289041 A G SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known silent c.450 p.L150 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 113 0 0 67 53 44.1667 ABCA1 0 genome.wustl.edu 37 9 107586833 107586833 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 107586833 107586833 A G SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.2569 p.Y857H 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 57 0 0 25 16 39.0244 ZNF462 0 genome.wustl.edu 37 9 109687846 109687846 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 109687846 109687846 A G SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.1653 p.P551 0.358 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 19 0 0 16 8 33.3333 ZNF462 0 genome.wustl.edu 37 9 109689202 109689202 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 109689202 109689202 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.3009 p.T1003 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 133 0 0 69 73 51.4085 ZNF462 0 genome.wustl.edu 37 9 109746636 109746636 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 109746636 109746636 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.7182 p.Y2394 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 87 0 0 53 23 30.2632 ACTL7A 0 genome.wustl.edu 37 9 111625268 111625268 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 111625268 111625268 C T SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known silent c.666 p.G222 0.118 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 61 0 0 34 32 48.4848 EPB41L4B 0 genome.wustl.edu 37 9 112017946 112017946 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 112017946 112017946 C T SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known silent c.1014 p.E338 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 110 0 0 72 36 33.3333 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899061 112899061 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 112899061 112899061 C T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.1237 p.R413C 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 63 0 0 36 25 40.9836 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899946 112899946 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 112899946 112899946 G A SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.2122 p.E708K 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 119 0 0 70 48 40.678 PALM2-AKAP2 0 genome.wustl.edu 37 9 112900545 112900545 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 112900545 112900545 C T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known silent c.2721 p.P907 0.015 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 31 0 0 19 13 40.625 SVEP1 0 genome.wustl.edu 37 9 113341715 113341715 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 113341715 113341715 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.109 p.E37K 0.926 NULL pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 12 0 0 10 3 23.0769 C9orf84 0 genome.wustl.edu 37 9 114490105 114490105 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 114490105 114490105 C T SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.1450 p.D484N 0.016 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 76 0 0 62 40 39.2157 SUSD1 0 genome.wustl.edu 37 9 114886564 114886564 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 114886564 114886564 A G SNP SUSD1 ENST00000374264 human ensembl 74_37 -1 known missense c.859 p.W287R 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 155 0 0 105 58 35.5828 ALAD 0 genome.wustl.edu 37 9 116152751 116152751 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 116152751 116152751 C T SNP ALAD ENST00000409155 human ensembl 74_37 -1 known silent c.504 p.S168 0.396 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 52 0 0 33 14 29.7872 ZNF618 0 genome.wustl.edu 37 9 116770651 116770651 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 116770651 116770651 A G SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.668 p.N223S 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 74 0 0 31 24 43.6364 ZNF618 0 genome.wustl.edu 37 9 116811914 116811914 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 116811914 116811914 G A SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.2332 p.A778T 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 98 0 0 49 29 37.1795 COL27A1 0 genome.wustl.edu 37 9 116930508 116930508 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 116930508 116930508 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.673 p.A225T 1.000 superfamily_ConA-like_lec_gl_sf pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 91 0 0 49 21 30 COL27A1 0 genome.wustl.edu 37 9 117068923 117068923 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 117068923 117068923 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.5062 p.R1688W 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 43 0 0 30 25 45.4545 CDK5RAP2 0 genome.wustl.edu 37 9 123199642 123199642 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 123199642 123199642 C T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.3886 p.E1296K 0.947 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 50 0 0 28 13 31.7073 DAB2IP 0 genome.wustl.edu 37 9 124461682 124461682 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 124461682 124461682 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.307 p.R103C 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 23 0 0 12 8 40 OR1N1 0 genome.wustl.edu 37 9 125289508 125289508 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 125289508 125289508 T G SNP OR1N1 ENST00000304880 human ensembl 74_37 -1 known missense c.65 p.Q22P 0.098 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N1 HGNC ENSG00000171505 45 0 0 29 14 32.5581 MAPKAP1 0 genome.wustl.edu 37 9 128206809 128206809 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 128206809 128206809 C T SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.1414 p.A472T 0.999 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 109 1 0.909091 62 35 36.0825 ZBTB34 0 genome.wustl.edu 37 9 129642094 129642094 + Missense_Mutation SNP A A C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 129642094 129642094 A C SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known missense c.416 p.D139A 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 92 0 0 63 31 32.9787 RALGPS1 0 genome.wustl.edu 37 9 129931041 129931041 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 129931041 129931041 G A SNP RALGPS1 ENST00000259351 human ensembl 74_37 +1 known missense c.832 p.D278N 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 121 0 0 75 43 36.4407 CDK9 0 genome.wustl.edu 37 9 130551706 130551706 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 130551706 130551706 A G SNP CDK9 ENST00000373265 human ensembl 74_37 +1 known missense c.1354 p.M452V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK9 HGNC ENSG00000136807 119 0 0 58 29 33.3333 CERCAM 0 genome.wustl.edu 37 9 131198171 131198171 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 131198171 131198171 G A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.1775 p.R592Q 0.010 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 20 0 0 10 6 37.5 NUP188 0 genome.wustl.edu 37 9 131731771 131731771 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 131731771 131731771 C T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.890 p.A297V 0.997 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 60 0 0 54 20 27.027 SH3GLB2 0 genome.wustl.edu 37 9 131771452 131771452 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 131771452 131771452 C T SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known missense c.1040 p.R347H 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 29 0 0 11 13 54.1667 NTMT1 0 genome.wustl.edu 37 9 132396542 132396542 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 132396542 132396542 G A SNP NTMT1 ENST00000372480 human ensembl 74_37 +1 known silent c.372 p.P124 0.006 pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 108 0 0 61 38 38.3838 TOR1B 0 genome.wustl.edu 37 9 132571734 132571734 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 132571734 132571734 C T SNP TOR1B ENST00000259339 human ensembl 74_37 +1 known missense c.883 p.R295C 1.000 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1B HGNC ENSG00000136816 75 0 0 48 32 40 LAMC3 0 genome.wustl.edu 37 9 133914603 133914603 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 133914603 133914603 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.1251 p.P417 0.682 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 44 0 0 25 15 37.5 POMT1 0 genome.wustl.edu 37 9 134379721 134379721 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 134379721 134379721 C T SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.116 p.A39V 1.000 pfam_Glyco_trans_39 pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 60 0 0 34 23 40.3509 NTNG2 0 genome.wustl.edu 37 9 135042352 135042352 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 135042352 135042352 G A SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.134 p.R45H 1.000 smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 81 0 0 53 24 31.1688 GTF3C4 0 genome.wustl.edu 37 9 135553865 135553865 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 135553865 135553865 G A SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known missense c.859 p.V287M 0.985 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 104 0 0 61 44 41.9048 TSC1 0 genome.wustl.edu 37 9 135786076 135786076 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 135786076 135786076 C T SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.1145 p.G382D 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 207 0 0 125 52 29.3785 SURF6 0 genome.wustl.edu 37 9 136199105 136199105 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 136199105 136199105 G A SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.686 p.T229M 0.994 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 75 0 0 71 11 13.4146 SURF2 0 genome.wustl.edu 37 9 136226922 136226922 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 136226922 136226922 G A SNP SURF2 ENST00000371964 human ensembl 74_37 +1 known missense c.434 p.R145H 0.000 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC ENSG00000148291 32 0 0 21 3 12.5 SARDH 0 genome.wustl.edu 37 9 136536724 136536724 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 136536724 136536724 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.2259 p.A753 0.004 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 22 0 0 12 3 20 WDR5 0 genome.wustl.edu 37 9 137005059 137005059 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 137005059 137005059 G A SNP WDR5 ENST00000358625 human ensembl 74_37 +1 known silent c.60 p.S20 0.529 NULL pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5 HGNC ENSG00000196363 84 0 0 41 29 41.4286 COL5A1 0 genome.wustl.edu 37 9 137710579 137710579 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 137710579 137710579 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.4308 p.P1436 0.059 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 30 0 0 15 9 37.5 OLFM1 0 genome.wustl.edu 37 9 137998693 137998693 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 137998693 137998693 G A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.775 p.D259N 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 25 0 0 8 3 27.2727 MRPS2 0 genome.wustl.edu 37 9 138395646 138395646 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 138395646 138395646 G A SNP MRPS2 ENST00000241600 human ensembl 74_37 +1 known silent c.558 p.T186 0.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 61 0 0 37 20 35.0877 CARD9 0 genome.wustl.edu 37 9 139264798 139264798 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 139264798 139264798 G A SNP CARD9 ENST00000371732 human ensembl 74_37 -1 known missense c.899 p.T300I 0.730 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 21 0 0 12 3 20 SEC16A 0 genome.wustl.edu 37 9 139370620 139370620 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 139370620 139370620 G A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.1448 p.P483L 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 41 0 0 27 26 49.0566 RABL6 0 genome.wustl.edu 37 9 139733726 139733726 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 139733726 139733726 G A SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.1549 p.A517T 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 17 0 0 6 8 57.1429 FUT7 0 genome.wustl.edu 37 9 139925737 139925737 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 139925737 139925737 G A SNP FUT7 ENST00000314412 human ensembl 74_37 -1 known missense c.454 p.P152S 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT7 HGNC ENSG00000180549 14 0 0 9 4 30.7692 C9orf139 0 genome.wustl.edu 37 9 139929343 139929343 + Missense_Mutation SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 139929343 139929343 C G SNP C9orf139 ENST00000314330 human ensembl 74_37 +1 known missense c.410 p.A137G 0.000 NULL NULL - no_errors C9orf139 HGNC ENSG00000180539 106 0 0 52 33 38.8235 NOXA1 0 genome.wustl.edu 37 9 140327956 140327956 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 140327956 140327956 G A SNP NOXA1 ENST00000341349 human ensembl 74_37 +1 known missense c.961 p.A321T 0.054 smart_OPR_PB1 pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_TPR_repeat,smart_OPR_PB1,smart_SH3_domain,pfscan_SH3_domain,pfscan_TPR-contain_dom - no_errors NOXA1 HGNC ENSG00000188747 17 0 0 7 5 41.6667 CACNA1B 0 genome.wustl.edu 37 9 140777198 140777198 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 140777198 140777198 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.393 p.D131 0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 100 0 0 51 22 30.137 ADAMTSL1 0 genome.wustl.edu 37 9 18777506 18777506 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 18777506 18777506 C T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel silent c.3279 p.R1093 0.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 29 0 0 7 7 50 HAUS6 0 genome.wustl.edu 37 9 19070224 19070224 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 19070224 19070224 C T SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known missense c.1369 p.A457T 0.002 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 28 0 0 14 9 39.1304 ACER2 0 genome.wustl.edu 37 9 19450475 19450475 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 19450475 19450475 C T SNP ACER2 ENST00000340967 human ensembl 74_37 +1 known silent c.669 p.Y223 1.000 pfam_Ceramidase pfam_Ceramidase - no_errors ACER2 HGNC ENSG00000177076 113 1 0.877193 66 47 41.5929 SMARCA2 0 genome.wustl.edu 37 9 2039812 2039812 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 2039812 2039812 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.702 p.Q234 0.014 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 30 0 0 15 4 21.0526 SMARCA2 0 genome.wustl.edu 37 9 2123753 2123753 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 2123753 2123753 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.3797 p.R1266Q 0.996 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 41 0 0 15 11 42.3077 ELAVL2 0 genome.wustl.edu 37 9 23692861 23692861 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 23692861 23692861 G A SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known silent c.774 p.D258 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 57 0 0 31 15 32.6087 CAAP1 0 genome.wustl.edu 37 9 26884837 26884837 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 26884837 26884837 A G SNP CAAP1 ENST00000333916 human ensembl 74_37 -1 known silent c.636 p.G212 1.000 NULL NULL - no_errors CAAP1 HGNC ENSG00000120159 177 0 0 115 60 34.2857 DDX58 0 genome.wustl.edu 37 9 32487537 32487537 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 32487537 32487537 G A SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.1307 p.A436V 0.050 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 78 0 0 51 25 32.8947 TOPORS 0 genome.wustl.edu 37 9 32541935 32541935 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 32541935 32541935 C T SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known missense c.2588 p.R863Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 156 1 0.636943 120 65 35.1351 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 23 0 0 20 10 33.3333 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 27 0 0 30 8 21.0526 ARID3C 0 genome.wustl.edu 37 9 34623962 34623962 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 34623962 34623962 G A SNP ARID3C ENST00000378909 human ensembl 74_37 -1 known silent c.474 p.G158 0.931 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3C HGNC ENSG00000205143 9 0 0 8 8 50 SPAG8 0 genome.wustl.edu 37 9 35810882 35810882 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 35810882 35810882 C T SNP SPAG8 ENST00000340291 human ensembl 74_37 -1 known missense c.1037 p.R346Q 0.850 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 96 0 0 38 24 38.7097 SPAG8 0 genome.wustl.edu 37 9 35811334 35811334 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 35811334 35811334 A G SNP SPAG8 ENST00000340291 human ensembl 74_37 -1 known missense c.709 p.W237R 0.001 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 255 0 0 132 76 36.5385 FRMPD1 0 genome.wustl.edu 37 9 37740863 37740863 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 37740863 37740863 C T SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.2338 p.P780S 0.988 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 45 0 0 27 17 38.6364 IGFBPL1 0 genome.wustl.edu 37 9 38411500 38411500 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 38411500 38411500 G A SNP IGFBPL1 ENST00000377694 human ensembl 74_37 -1 known missense c.734 p.A245V 0.727 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors IGFBPL1 HGNC ENSG00000137142 69 0 0 31 16 34.0426 CNTNAP3B 0 genome.wustl.edu 37 9 43737470 43737470 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 43737470 43737470 A G SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.340 p.S114G 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 114 0 0 64 50 43.8596 SPATA31A7 0 genome.wustl.edu 37 9 65506469 65506469 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 65506469 65506469 C T SNP SPATA31A7 ENST00000355045 human ensembl 74_37 -1 known missense c.1091 p.R364Q 0.003 NULL NULL - no_errors SPATA31A7 HGNC ENSG00000234734 146 0 0 37 129 77.7108 FOXD4L5 0 genome.wustl.edu 37 9 70177122 70177122 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 70177122 70177122 C T SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known missense c.862 p.A288T 0.367 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 109 0 0 83 21 20.1923 PGM5 0 genome.wustl.edu 37 9 70993152 70993152 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 70993152 70993152 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.299 p.S100L 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 83 0 0 83 15 15.3061 PRKACG 0 genome.wustl.edu 37 9 71628114 71628114 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 71628114 71628114 C T SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known missense c.895 p.A299T 0.957 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 110 0 0 66 42 38.8889 TRPM3 0 genome.wustl.edu 37 9 73205921 73205921 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 73205921 73205921 T C SNP TRPM3 ENST00000396285 human ensembl 74_37 -1 novel silent c.2754 p.T918 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 78 0 0 49 22 30.9859 ZFAND5 0 genome.wustl.edu 37 9 74975132 74975132 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 74975132 74975132 C T SNP ZFAND5 ENST00000237937 human ensembl 74_37 -1 known missense c.157 p.A53T 1.000 NULL pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND5 HGNC ENSG00000107372 61 0 0 60 29 32.5843 PRUNE2 0 genome.wustl.edu 37 9 79320991 79320991 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 79320991 79320991 C T SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.5122 p.A1708T 0.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 150 0 0 77 47 37.9032 PRUNE2 0 genome.wustl.edu 37 9 79328535 79328535 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 79328535 79328535 G C SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel missense c.859 p.Q287E 0.940 pfam_DHHA2 pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 14 0 0 12 6 33.3333 VPS13A 0 genome.wustl.edu 37 9 79985472 79985472 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 79985472 79985472 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.8885 p.R2962H 1.000 pfam_Autophagy-rel_C pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 76 0 0 50 37 42.5287 TLE4 0 genome.wustl.edu 37 9 82323523 82323523 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 82323523 82323523 C T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.1181 p.T394I 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 130 0 0 82 44 34.9206 DMRT1 0 genome.wustl.edu 37 9 847112 847112 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 847112 847112 G A SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known silent c.507 p.P169 0.317 pfam_DMRT1-like pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 60 0 0 32 23 41.8182 HNRNPK 0 genome.wustl.edu 37 9 86585140 86585140 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 86585140 86585140 C A SNP HNRNPK ENST00000376263 human ensembl 74_37 -1 known missense c.1298 p.R433L 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 77 0 0 58 37 38.9474 NTRK2 0 genome.wustl.edu 37 9 87342787 87342787 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 87342787 87342787 G T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.1072 p.D358Y 0.930 pfam_Ig_I-set,prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 79 0 0 53 33 38.3721 SHC3 0 genome.wustl.edu 37 9 91652963 91652963 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 91652963 91652963 G A SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known missense c.1601 p.T534M 0.999 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 131 0 0 92 53 36.5517 SEMA4D 0 genome.wustl.edu 37 9 92011709 92011709 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 92011709 92011709 G A SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known silent c.357 p.S119 0.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 26 0 0 17 8 32 SYK 0 genome.wustl.edu 37 9 93640023 93640023 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 93640023 93640023 C T SNP SYK ENST00000375746 human ensembl 74_37 +1 known missense c.1352 p.A451V 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,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 58 0 0 51 21 29.1667 NOL8 0 genome.wustl.edu 37 9 95077846 95077846 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 95077846 95077846 A G SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.1061 p.L354S 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 22 0 0 12 10 45.4545 FAM120A 0 genome.wustl.edu 37 9 96278450 96278450 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 96278450 96278450 G A SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known silent c.1317 p.P439 0.897 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 75 0 0 40 33 45.2055 ZNF169 0 genome.wustl.edu 37 9 97063255 97063255 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 97063255 97063255 C T SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.1415 p.T472I 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 67 0 0 49 18 26.8657 DRP2 0 genome.wustl.edu 37 X 100492712 100492712 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 100492712 100492712 T A SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.386 p.L129Q 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 150 0 0 147 9 5.76923 ARMCX2 0 genome.wustl.edu 37 X 100911088 100911088 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 100911088 100911088 A G SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known missense c.1487 p.M496T 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 173 0 0 97 82 45.8101 ARMCX2 0 genome.wustl.edu 37 X 100911473 100911473 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 100911473 100911473 C T SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known missense c.1102 p.V368I 0.003 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 92 0 0 63 38 37.6238 WWC3 0 genome.wustl.edu 37 X 10094192 10094192 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 10094192 10094192 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.1952 p.T651M 1.000 superfamily_C2_dom superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 370 0 0 227 129 36.236 ZMAT1 0 genome.wustl.edu 37 X 101138381 101138381 + RNA SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 101138381 101138381 T A SNP ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 10 0 0 9 7 43.75 TCEAL3 0 genome.wustl.edu 37 X 102864512 102864512 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 102864512 102864512 G A SNP TCEAL3 ENST00000243286 human ensembl 74_37 +1 known missense c.520 p.A174T 0.000 NULL pfam_TF_A-like/BEX-like - no_errors TCEAL3 HGNC ENSG00000196507 272 0 0 222 44 16.5414 RNF128 0 genome.wustl.edu 37 X 105970199 105970199 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 105970199 105970199 G T SNP RNF128 ENST00000255499 human ensembl 74_37 +1 known missense c.56 p.R19I 0.823 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 8 0 0 5 4 44.4444 TSC22D3 0 genome.wustl.edu 37 X 106957756 106957756 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 106957756 106957756 G A SNP TSC22D3 ENST00000315660 human ensembl 74_37 -1 known missense c.596 p.A199V 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 48 0 0 39 16 29.0909 DCX 0 genome.wustl.edu 37 X 110653323 110653323 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 110653323 110653323 G A SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.547 p.R183C 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 122 0 0 62 45 42.0561 TRPC5 0 genome.wustl.edu 37 X 111195335 111195335 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 111195335 111195335 C T SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.314 p.R105H 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 162 0 0 97 62 38.9937 SLC6A14 0 genome.wustl.edu 37 X 115572199 115572199 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 115572199 115572199 T G SNP SLC6A14 ENST00000371900 human ensembl 74_37 +1 known missense c.280 p.C94G 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 304 1 0.327869 182 115 38.7205 KLHL13 0 genome.wustl.edu 37 X 117043339 117043339 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 117043339 117043339 G A SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known missense c.1300 p.R434C 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 60 0 0 61 5 7.57576 RNF113A 0 genome.wustl.edu 37 X 119005267 119005267 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 119005267 119005267 G T SNP RNF113A ENST00000371442 human ensembl 74_37 -1 known missense c.310 p.R104S 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 349 0 0 225 125 35.7143 AKAP14 0 genome.wustl.edu 37 X 119037280 119037280 + Missense_Mutation SNP T T G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 119037280 119037280 T G SNP AKAP14 ENST00000371431 human ensembl 74_37 +1 known missense c.94 p.Y32D 0.002 NULL NULL - no_errors AKAP14 HGNC ENSG00000186471 98 0 0 61 41 40.1961 RHOXF2 0 genome.wustl.edu 37 X 119293304 119293304 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 119293304 119293304 C T SNP RHOXF2 ENST00000371388 human ensembl 74_37 +1 known missense c.463 p.R155C 0.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2 HGNC ENSG00000131721 31 0 0 18 17 48.5714 TMEM255A 0 genome.wustl.edu 37 X 119410901 119410901 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 119410901 119410901 G A SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known missense c.586 p.R196W 1.000 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 103 0 0 78 27 25.7143 CUL4B 0 genome.wustl.edu 37 X 119691798 119691798 + Missense_Mutation SNP T T A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 119691798 119691798 T A SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known missense c.707 p.N236I 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 32 0 0 18 12 40 CUL4B 0 genome.wustl.edu 37 X 119691804 119691804 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 119691804 119691804 T C SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known missense c.701 p.K234R 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 34 0 0 21 11 34.375 GLUD2 0 genome.wustl.edu 37 X 120182193 120182193 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 120182193 120182193 G A SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.655 p.V219I 0.999 pfam_Glu/Leu/Phe/Val_DH_dimer_dom pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 152 0 0 85 58 40.5594 TENM1 0 genome.wustl.edu 37 X 123539072 123539072 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 123539072 123539072 G A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5200 p.R1734C 0.727 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 85 0 0 57 36 38.7097 OCRL 0 genome.wustl.edu 37 X 128703273 128703273 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 128703273 128703273 G A SNP OCRL ENST00000371113 human ensembl 74_37 +1 known missense c.1499 p.R500Q 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 129 0 0 94 57 37.7483 OCRL 0 genome.wustl.edu 37 X 128723844 128723844 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 128723844 128723844 G A SNP OCRL ENST00000371113 human ensembl 74_37 +1 known missense c.2492 p.C831Y 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 103 0 0 60 44 42.3077 UTP14A 0 genome.wustl.edu 37 X 129055422 129055422 + Missense_Mutation SNP G G C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 129055422 129055422 G C SNP UTP14A ENST00000394422 human ensembl 74_37 +1 known missense c.1207 p.G403R 0.038 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 66 0 0 34 22 39.2857 RAB33A 0 genome.wustl.edu 37 X 129306239 129306239 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 129306239 129306239 C A SNP RAB33A ENST00000257017 human ensembl 74_37 +1 known missense c.203 p.T68N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 110 0 0 71 37 34.2593 GPR119 0 genome.wustl.edu 37 X 129518465 129518465 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 129518465 129518465 C A SNP GPR119 ENST00000276218 human ensembl 74_37 -1 known missense c.957 p.R319S 0.875 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR119 HGNC ENSG00000147262 134 0 0 67 41 37.963 ENSG00000229702 0 genome.wustl.edu 37 X 129629153 129629153 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 129629153 129629153 G A SNP ENSG00000229702 ENST00000458525 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP1-274L7.1 Clone_based_vega_gene ENSG00000229702 50 0 0 39 21 35 TMSB4X 0 genome.wustl.edu 37 X 12994449 12994449 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 12994449 12994449 G A SNP TMSB4X ENST00000380633 human ensembl 74_37 +1 known silent c.69 p.T23 1.000 pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa - no_errors TMSB4X HGNC ENSG00000205542 64 0 0 53 40 43.0108 OR13H1 0 genome.wustl.edu 37 X 130678359 130678359 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 130678359 130678359 C T SNP OR13H1 ENST00000338616 human ensembl 74_37 +1 known silent c.312 p.S104 0.045 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 OR13H1 HGNC ENSG00000171054 122 0 0 82 6 6.81818 RAP2C 0 genome.wustl.edu 37 X 131351264 131351264 + Missense_Mutation SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 131351264 131351264 A T SNP RAP2C ENST00000342983 human ensembl 74_37 -1 known missense c.33 p.S11R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 328 0 0 187 118 38.6885 GPC4 0 genome.wustl.edu 37 X 132439845 132439845 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 132439845 132439845 G A SNP GPC4 ENST00000370828 human ensembl 74_37 -1 known silent c.1110 p.P370 0.000 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 349 1 0.285714 212 112 34.5679 GPR112 0 genome.wustl.edu 37 X 135428783 135428783 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 135428783 135428783 T C SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.2918 p.I973T 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 183 0 0 134 86 39.0909 MCF2 0 genome.wustl.edu 37 X 138729031 138729031 + Silent SNP A A T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 138729031 138729031 A T SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known silent c.312 p.I104 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 8 0 0 8 8 50 FMR1 0 genome.wustl.edu 37 X 147026364 147026364 + RNA SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 147026364 147026364 G A SNP FMR1 ENST00000478848 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors FMR1 HGNC ENSG00000102081 18 0 0 15 7 31.8182 MAMLD1 0 genome.wustl.edu 37 X 149671777 149671777 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 149671777 149671777 C T SNP MAMLD1 ENST00000262858 human ensembl 74_37 +1 known silent c.2274 p.C758 0.984 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 14 0 0 11 6 35.2941 HMGB3 0 genome.wustl.edu 37 X 150154642 150154642 + Missense_Mutation SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 150154642 150154642 C A SNP HMGB3 ENST00000325307 human ensembl 74_37 +1 known missense c.269 p.P90H 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB3 HGNC ENSG00000029993 40 0 0 20 15 42.8571 GPR50 0 genome.wustl.edu 37 X 150349152 150349152 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 150349152 150349152 G A SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.1097 p.R366Q 0.975 prints_Mel_rcpt_1X pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 158 1 0.628931 77 78 50.3226 CETN2 0 genome.wustl.edu 37 X 151996414 151996414 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 151996414 151996414 G A SNP CETN2 ENST00000370277 human ensembl 74_37 -1 known missense c.490 p.R164C 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN2 HGNC ENSG00000147400 166 0 0 98 44 30.9859 ZNF275 0 genome.wustl.edu 37 X 152613122 152613122 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 152613122 152613122 G A SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known missense c.1069 p.G357S 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 ZNF275 HGNC ENSG00000063587 26 0 0 13 9 40.9091 HAUS7 0 genome.wustl.edu 37 X 152720451 152720451 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 152720451 152720451 C T SNP HAUS7 ENST00000370212 human ensembl 74_37 -1 known missense c.1021 p.A341T 0.000 NULL NULL - no_errors HAUS7 HGNC ENSG00000213397 100 1 0.990099 67 32 32.3232 L1CAM 0 genome.wustl.edu 37 X 153131206 153131206 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 153131206 153131206 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.2506 p.R836W 0.034 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 252 0 0 139 89 39.0351 HCFC1 0 genome.wustl.edu 37 X 153219633 153219633 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 153219633 153219633 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.4217 p.A1406V 0.001 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 62 0 0 31 19 38 HCFC1 0 genome.wustl.edu 37 X 153227748 153227748 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 153227748 153227748 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.722 p.T241M 1.000 pfam_Kelch_2 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 24 0 0 18 12 40 MECP2 0 genome.wustl.edu 37 X 153296753 153296753 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 153296753 153296753 G A SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known missense c.526 p.P176S 1.000 superfamily_DNA-bd_dom,pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 158 0 0 58 56 49.1228 OPN1LW 0 genome.wustl.edu 37 X 153420113 153420113 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 153420113 153420113 G A SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.643 p.G215R 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 144 0 0 152 60 28.3019 OPN1LW 0 genome.wustl.edu 37 X 153421957 153421957 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 153421957 153421957 C A SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known silent c.933 p.A311 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 326 0 0 308 114 27.0142 FLNA 0 genome.wustl.edu 37 X 153593797 153593797 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 153593797 153593797 C T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.1487 p.R496Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 68 0 0 43 21 32.8125 PLXNA3 0 genome.wustl.edu 37 X 153689624 153689624 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 153689624 153689624 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known silent c.780 p.S260 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 125 0 0 72 38 34.5455 SLC10A3 0 genome.wustl.edu 37 X 153715994 153715994 + Missense_Mutation SNP G G T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 153715994 153715994 G T SNP SLC10A3 ENST00000263512 human ensembl 74_37 -1 known missense c.1286 p.A429D 1.000 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 61 0 0 25 18 41.8605 TMLHE 0 genome.wustl.edu 37 X 154754197 154754197 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 154754197 154754197 C T SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known missense c.278 p.R93H 0.997 pfam_DUF971,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 231 0 0 110 71 39.2265 SPRY3 0 genome.wustl.edu 37 X 155004342 155004342 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 155004342 155004342 G A SNP SPRY3 ENST00000302805 human ensembl 74_37 +1 known missense c.809 p.C270Y 1.000 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 169 0 0 74 65 46.7626 TXLNG 0 genome.wustl.edu 37 X 16859880 16859880 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 16859880 16859880 G A SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known silent c.1578 p.S526 0.038 NULL pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 164 0 0 79 61 43.5714 RBBP7 0 genome.wustl.edu 37 X 16870926 16870926 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 16870926 16870926 G A SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known silent c.831 p.C277 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 184 0 0 116 83 41.7085 AKAP17A 0 genome.wustl.edu 37 X 1712694 1712694 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 1712694 1712694 C T SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known silent c.339 p.R113 0.937 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 220 0 0 129 79 37.9808 ZNF645 0 genome.wustl.edu 37 X 22291518 22291518 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 22291518 22291518 G A SNP ZNF645 ENST00000323684 human ensembl 74_37 +1 known missense c.410 p.R137H 0.000 pfscan_Znf_C2H2 pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 97 0 0 60 38 38.7755 POLA1 0 genome.wustl.edu 37 X 24750565 24750565 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 24750565 24750565 T C SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known missense c.1765 p.F589L 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 47 0 0 30 20 40 IL1RAPL1 0 genome.wustl.edu 37 X 29973787 29973787 + Silent SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 29973787 29973787 T C SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.1941 p.H647 1.000 NULL pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 38 0 0 27 16 37.2093 ARSF 0 genome.wustl.edu 37 X 3002316 3002316 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 3002316 3002316 C T SNP ARSF ENST00000359361 human ensembl 74_37 +1 known nonsense c.439 p.R147* 0.001 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 104 0 0 64 34 34.6939 PPP2R3B 0 genome.wustl.edu 37 X 306252 306252 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 306252 306252 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.1035 p.H345 0.999 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 55 0 0 21 17 44.7368 TAB3 0 genome.wustl.edu 37 X 30870981 30870981 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 30870981 30870981 G A SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known missense c.1624 p.R542W 0.931 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 66 0 0 50 24 32.4324 MXRA5 0 genome.wustl.edu 37 X 3235295 3235295 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 3235295 3235295 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.6427 p.A2143T 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 39 0 0 20 11 35.4839 MXRA5 0 genome.wustl.edu 37 X 3240108 3240108 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 3240108 3240108 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.3618 p.V1206 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 79 0 0 64 30 31.9149 CXorf22 0 genome.wustl.edu 37 X 35989784 35989784 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 35989784 35989784 G A SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known silent c.2052 p.A684 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 43 0 0 26 20 43.4783 FAM47C 0 genome.wustl.edu 37 X 37027114 37027114 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 37027114 37027114 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.631 p.R211C 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 77 0 0 37 25 40.3226 FAM47C 0 genome.wustl.edu 37 X 37027775 37027775 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 37027775 37027775 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1292 p.P431L 0.367 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 116 0 0 73 33 31.1321 USP9X 0 genome.wustl.edu 37 X 41025387 41025387 + Nonsense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 41025387 41025387 C T SNP USP9X ENST00000324545 human ensembl 74_37 +1 known nonsense c.2248 p.R750* 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 69 0 0 50 21 29.5775 USP9X 0 genome.wustl.edu 37 X 41075795 41075795 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 41075795 41075795 G A SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.5975 p.R1992Q 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 111 0 0 63 44 41.1215 NDUFB11 0 genome.wustl.edu 37 X 47003890 47003890 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 47003890 47003890 G A SNP NDUFB11 ENST00000276062 human ensembl 74_37 -1 known silent c.189 p.D63 0.753 pfam_NADH_UbQ_OxRdtase_ESSS_su pfam_NADH_UbQ_OxRdtase_ESSS_su - no_errors NDUFB11 HGNC ENSG00000147123 27 0 0 23 18 43.9024 GLOD5 0 genome.wustl.edu 37 X 48629416 48629416 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 48629416 48629416 A G SNP GLOD5 ENST00000303227 human ensembl 74_37 +1 known missense c.275 p.K92R 1.000 pfam_Glyas_Fos-R_dOase_dom pfam_Glyas_Fos-R_dOase_dom - no_errors GLOD5 HGNC ENSG00000171433 32 0 0 15 8 34.7826 GATA1 0 genome.wustl.edu 37 X 48649621 48649621 + Silent SNP C C A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 48649621 48649621 C A SNP GATA1 ENST00000376670 human ensembl 74_37 +1 known silent c.105 p.P35 0.995 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 13 0 0 10 5 33.3333 HDAC6 0 genome.wustl.edu 37 X 48678589 48678589 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 48678589 48678589 C T SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.2306 p.S769L 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 80 0 0 39 36 48 TFE3 0 genome.wustl.edu 37 X 48891050 48891050 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 48891050 48891050 G A SNP TFE3 ENST00000315869 human ensembl 74_37 -1 known missense c.1066 p.R356C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFE3 HGNC ENSG00000068323 58 0 0 22 29 56.8627 CCDC120 0 genome.wustl.edu 37 X 48925127 48925127 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 48925127 48925127 G A SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known missense c.1477 p.G493S 0.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 46 0 0 22 19 46.3415 GPKOW 0 genome.wustl.edu 37 X 48973476 48973476 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 48973476 48973476 C T SNP GPKOW ENST00000156109 human ensembl 74_37 -1 known missense c.821 p.R274H 0.839 superfamily_Translation_prot_SH3-like pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 61 0 0 36 25 40.9836 MAGIX 0 genome.wustl.edu 37 X 49021225 49021225 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 49021225 49021225 G A SNP MAGIX ENST00000412696 human ensembl 74_37 +1 known missense c.304 p.A102T 0.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 185 0 0 107 64 37.4269 CACNA1F 0 genome.wustl.edu 37 X 49078999 49078999 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 49078999 49078999 G A SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.2303 p.T768I 0.995 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 21 0 0 39 10 20.4082 CACNA1F 0 genome.wustl.edu 37 X 49079419 49079419 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 49079419 49079419 G A SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.2087 p.T696M 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 21 0 0 15 5 25 CCNB3 0 genome.wustl.edu 37 X 50052149 50052149 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 50052149 50052149 T C SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.980 p.F327S 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 189 1 0.526316 116 80 40.8163 CCNB3 0 genome.wustl.edu 37 X 50090755 50090755 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 50090755 50090755 T C SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.3941 p.M1314T 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 39 0 0 27 12 30.7692 SHROOM4 0 genome.wustl.edu 37 X 50378059 50378059 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 50378059 50378059 G A SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known silent c.1014 p.G338 0.255 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 69 0 0 47 3 6 HUWE1 0 genome.wustl.edu 37 X 53657955 53657955 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 53657955 53657955 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.794 p.H265R 1.000 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 79 0 0 60 36 37.5 FAM120C 0 genome.wustl.edu 37 X 54117833 54117833 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 54117833 54117833 C T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.2339 p.R780Q 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 42 0 0 37 14 27.451 TRO 0 genome.wustl.edu 37 X 54949891 54949891 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 54949891 54949891 G A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.926 p.G309D 0.015 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 12 0 0 6 7 53.8462 MAGEH1 0 genome.wustl.edu 37 X 55478849 55478849 + Silent SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 55478849 55478849 A G SNP MAGEH1 ENST00000342972 human ensembl 74_37 +1 known silent c.42 p.R14 0.016 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 28 0 0 11 7 38.8889 NLGN4X 0 genome.wustl.edu 37 X 5821129 5821129 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 5821129 5821129 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.1650 p.F550 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 69 0 0 44 34 43.5897 SHOX 0 genome.wustl.edu 37 X 601806 601806 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 601806 601806 G A SNP SHOX ENST00000381578 human ensembl 74_37 +1 known missense c.617 p.R206Q 0.994 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 98 0 0 31 36 53.7313 MTMR8 0 genome.wustl.edu 37 X 63444306 63444306 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 63444306 63444306 C T SNP MTMR8 ENST00000453546 human ensembl 74_37 -1 known missense c.1991 p.R664H 0.991 pfam_SOCS_C,smart_SOCS_C pfam_Myotubularin-like_Pase_dom,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors MTMR8 HGNC ENSG00000102043 53 0 0 40 13 24.5283 ZC3H12B 0 genome.wustl.edu 37 X 64722913 64722913 + Missense_Mutation SNP A A G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 64722913 64722913 A G SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known missense c.2335 p.M779V 0.994 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 101 0 0 50 36 41.8605 MSN 0 genome.wustl.edu 37 X 64949377 64949377 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 64949377 64949377 C T SNP MSN ENST00000360270 human ensembl 74_37 +1 known silent c.270 p.S90 0.063 pirsf_ERM,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 109 1 0.909091 66 38 36.5385 DLG3 0 genome.wustl.edu 37 X 69669611 69669611 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 69669611 69669611 C T SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known missense c.659 p.A220V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 18 0 0 20 11 35.4839 NLGN3 0 genome.wustl.edu 37 X 70384062 70384062 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 70384062 70384062 G A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.797 p.R266H 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 52 0 0 55 5 8.33333 RGAG4 0 genome.wustl.edu 37 X 71349920 71349920 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 71349920 71349920 C T SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.1471 p.E491K 0.789 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 60 0 0 52 6 10.3448 STS 0 genome.wustl.edu 37 X 7267953 7267953 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 7267953 7267953 T C SNP STS ENST00000217961 human ensembl 74_37 +1 known missense c.1403 p.F468S 0.986 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 172 0 0 186 11 5.58376 MAP2K4P1 0 genome.wustl.edu 37 X 72745431 72745431 + RNA SNP C C G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 72745431 72745431 C G SNP MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 34 0 0 13 11 45.8333 KIAA2022 0 genome.wustl.edu 37 X 73963005 73963005 + Missense_Mutation SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 73963005 73963005 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.1387 p.M463V 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 54 0 0 36 17 32.0755 MAGT1 0 genome.wustl.edu 37 X 77112909 77112909 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 77112909 77112909 C T SNP MAGT1 ENST00000358075 human ensembl 74_37 -1 known missense c.572 p.R191Q 0.997 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 184 0 0 126 68 35.0515 P2RY10 0 genome.wustl.edu 37 X 78216537 78216537 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 78216537 78216537 G A SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.520 p.D174N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 82 0 0 44 37 45.679 ZNF711 0 genome.wustl.edu 37 X 84510642 84510642 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 84510642 84510642 G A SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.391 p.D131N 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 79 0 0 68 43 38.7387 DACH2 0 genome.wustl.edu 37 X 85403798 85403798 + Silent SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 85403798 85403798 C T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known silent c.174 p.G58 0.699 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 61 0 0 43 40 48.1928 DIAPH2 0 genome.wustl.edu 37 X 96167391 96167391 + Missense_Mutation SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 96167391 96167391 G A SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.652 p.D218N 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 15 0 0 12 4 25 SHROOM2 0 genome.wustl.edu 37 X 9900722 9900722 + Silent SNP G G A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 9900722 9900722 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known silent c.3399 p.E1133 1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 83 0 0 44 28 38.8889 SYTL4 0 genome.wustl.edu 37 X 99934400 99934400 + Missense_Mutation SNP C C T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 99934400 99934400 C T SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known missense c.1574 p.G525E 0.991 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 60 0 0 31 8 20.5128 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037835 10037835 + RNA SNP T T C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a Y 10037835 10037835 T C SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 21 0 0 17 4 19.0476 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 94 0 0 78 20 20.4082 PRPF38B 0 genome.wustl.edu 37 1 109241188 109241188 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 109241188 109241188 T - DEL PRPF38B ENST00000485810 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRPF38B HGNC ENSG00000134186 25 0 0 14 10 41.6667 GPR61 0 genome.wustl.edu 37 1 110086776 110086778 + In_Frame_Del DEL GAG GAG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 110086776 110086778 GAG - DEL GPR61 ENST00000404129 human ensembl 74_37 +1 known in_frame_del c.1132_1134 p.E379in_frame_del 1.000:1.000:1.000 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 54 0 0 38 24 38.7097 GSTM5 0 genome.wustl.edu 37 1 110256213 110256213 + RNA DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 110256213 110256213 G - DEL GSTM5 ENST00000492718 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors GSTM5 HGNC ENSG00000134201 132 0 0 74 33 30.8411 MASP2 0 genome.wustl.edu 37 1 11097818 11097818 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 11097818 11097818 C - DEL MASP2 ENST00000400897 human ensembl 74_37 -1 known frame_shift_del c.940 p.V314fs 0.976 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 161 0 0 100 47 31.9728 TTLL10 0 genome.wustl.edu 37 1 1116222 1116223 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 1116222 1116223 - G INS TTLL10 ENST00000379289 human ensembl 74_37 +1 known frame_shift_ins c.737_738 p.V249fs 0.000:0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 14 0 0 5 2 28.5714 SYCP1 0 genome.wustl.edu 37 1 115537601 115537601 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 115537601 115537601 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2892 p.K967fs 1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 54 0 0 41 27 39.7059 SPAG17 0 genome.wustl.edu 37 1 118567980 118567980 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 118567980 118567980 G - DEL SPAG17 ENST00000336338 human ensembl 74_37 -1 known frame_shift_del c.3790 p.Q1264fs 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 132 0 0 53 68 56.1983 DVL1 0 genome.wustl.edu 37 1 1273434 1273434 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 1273434 1273434 G - DEL DVL1 ENST00000378888 human ensembl 74_37 -1 known frame_shift_del c.1637 p.P546fs 0.998 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 44 0 0 28 12 30 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 28 0 0 12 8 40 PDE4DIP 0 genome.wustl.edu 37 1 144877213 144877213 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 144877213 144877213 T - DEL PDE4DIP ENST00000369356 human ensembl 74_37 -1 known frame_shift_del c.4474 p.I1492fs 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 179 0 0 149 34 18.5792 GJA5 0 genome.wustl.edu 37 1 147230552 147230552 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 147230552 147230552 G - DEL GJA5 ENST00000271348 human ensembl 74_37 -1 known frame_shift_del c.795 p.D266fs 0.185 prints_Connexin40 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 98 0 0 82 36 30.5085 MTMR11 0 genome.wustl.edu 37 1 149902648 149902648 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 149902648 149902648 A - DEL MTMR11 ENST00000492824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 18 0 0 17 6 26.087 RPRD2 0 genome.wustl.edu 37 1 150445908 150445908 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 150445908 150445908 T - DEL RPRD2 ENST00000492220 human ensembl 74_37 +1 known rna NULL NULL 0.276 - - - no_errors RPRD2 HGNC ENSG00000163125 11 0 0 5 5 50 SETDB1 0 genome.wustl.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 150917623 150917624 - G INS SETDB1 ENST00000368962 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.T396fs 0.000:0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 18 0 0 15 5 25 ZNF687 0 genome.wustl.edu 37 1 151261988 151261988 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 151261988 151261988 A - DEL ZNF687 ENST00000324048 human ensembl 74_37 +1 known frame_shift_del c.2606 p.R871fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 99 0 0 53 33 38.3721 SLC27A3 0 genome.wustl.edu 37 1 153751860 153751860 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 153751860 153751860 C - DEL SLC27A3 ENST00000368661 human ensembl 74_37 +1 known frame_shift_del c.1927 p.H645fs 0.247 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 95 0 0 71 30 29.703 DENND4B 0 genome.wustl.edu 37 1 153906026 153906026 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 153906026 153906026 G - DEL DENND4B ENST00000361217 human ensembl 74_37 -1 known frame_shift_del c.3263 p.P1088fs 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 39 0 0 20 9 31.0345 DENND4B 0 genome.wustl.edu 37 1 153907279 153907281 + In_Frame_Del DEL CTG CTG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 153907279 153907281 CTG - DEL DENND4B ENST00000361217 human ensembl 74_37 -1 known in_frame_del c.2730_2728 p.Q910in_frame_del 0.792:0.815:0.846 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 30 0 0 25 15 37.5 RAB13 0 genome.wustl.edu 37 1 153955602 153955603 + RNA DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 153955602 153955603 AA - DEL RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.029:0.027 - - - no_errors RAB13 HGNC ENSG00000143545 53 0 0 35 19 35.1852 TPM3 0 genome.wustl.edu 37 1 154143243 154143243 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 154143243 154143243 C - DEL TPM3 ENST00000469717 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPM3 HGNC ENSG00000143549 24 0 0 21 14 40 UBE2Q1 0 genome.wustl.edu 37 1 154524457 154524458 + Splice_Site INS - - GA TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 154524457 154524458 - GA INS UBE2Q1 ENST00000292211 human ensembl 74_37 -1 known splice_site_ins c.967-3_967-2 e9-2 1.000:0.187 - - - no_errors UBE2Q1 HGNC ENSG00000160714 59 0 0 64 18 21.9512 DCST2 0 genome.wustl.edu 37 1 155006137 155006137 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155006137 155006137 C - DEL DCST2 ENST00000368424 human ensembl 74_37 -1 known frame_shift_del c.41 p.G14fs 0.000 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 72 0 0 54 21 28 THBS3 0 genome.wustl.edu 37 1 155172646 155172646 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155172646 155172646 G - DEL THBS3 ENST00000368378 human ensembl 74_37 -1 known frame_shift_del c.914 p.P305fs 0.150 smart_EG-like_dom pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 105 0 0 62 24 27.907 FAM189B 0 genome.wustl.edu 37 1 155224231 155224232 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155224231 155224232 - C INS FAM189B ENST00000361361 human ensembl 74_37 -1 known frame_shift_ins c.242_241 p.V81fs 1.000:1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 126 0 0 57 41 41.8367 RUSC1-AS1 0 genome.wustl.edu 37 1 155291076 155291076 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155291076 155291076 C - DEL RUSC1-AS1 ENST00000446880 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RUSC1-AS1 HGNC ENSG00000225855 22 0 0 25 7 21.875 RUSC1 0 genome.wustl.edu 37 1 155296883 155296883 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155296883 155296883 G - DEL RUSC1 ENST00000368352 human ensembl 74_37 +1 known frame_shift_del c.2374 p.G793fs 0.767 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 126 0 0 89 37 29.3651 KIAA0907 0 genome.wustl.edu 37 1 155891720 155891720 + RNA DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 155891720 155891720 G - DEL KIAA0907 ENST00000483237 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA0907 HGNC ENSG00000132680 30 0 0 17 6 26.087 NES 0 genome.wustl.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 156642804 156642804 G - DEL NES ENST00000368223 human ensembl 74_37 -1 known frame_shift_del c.1176 p.T393fs 0.087 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 217 0 0 147 72 32.8767 NCSTN 0 genome.wustl.edu 37 1 160313199 160313199 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 160313199 160313199 G - DEL NCSTN ENST00000294785 human ensembl 74_37 +1 known frame_shift_del c.13 p.G6fs 0.915 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 30 0 0 28 7 20 KLHDC9 0 genome.wustl.edu 37 1 161068706 161068706 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 161068706 161068706 C - DEL KLHDC9 ENST00000368011 human ensembl 74_37 +1 known frame_shift_del c.381 p.A130fs 0.998 superfamily_Gal_Oxase/kelch_b-propeller superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC9 HGNC ENSG00000162755 13 0 0 6 4 40 USP21 0 genome.wustl.edu 37 1 161134660 161134660 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 161134660 161134660 A - DEL USP21 ENST00000289865 human ensembl 74_37 +1 known frame_shift_del c.1420 p.S476fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 102 0 0 47 10 17.5439 ALDH9A1 0 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ENSG00000143149 34 0 0 11 18 62.069 TMCO1 0 genome.wustl.edu 37 1 165737430 165737430 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 165737430 165737430 T - DEL TMCO1 ENST00000367881 human ensembl 74_37 -1 known frame_shift_del c.300 p.K100fs 0.998 pfam_DUF106_TM pfam_DUF106_TM - no_errors TMCO1 HGNC ENSG00000143183 40 0 0 25 11 30.5556 CCDC181 0 genome.wustl.edu 37 1 169366580 169366580 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 169366580 169366580 T - DEL CCDC181 ENST00000367806 human ensembl 74_37 -1 known frame_shift_del c.1265 p.K422fs 1.000 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 32 0 0 30 18 37.5 SLC9C2 0 genome.wustl.edu 37 1 173551149 173551150 + Splice_Site INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 173551149 173551150 - A INS SLC9C2 ENST00000367714 human ensembl 74_37 -1 known splice_site_ins c.641-3_641-2 e6-2 0.657:0.060 - - - no_errors SLC9C2 HGNC ENSG00000162753 22 0 0 18 12 40 SOAT1 0 genome.wustl.edu 37 1 179304653 179304653 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 179304653 179304653 T - DEL SOAT1 ENST00000367619 human ensembl 74_37 +1 known frame_shift_del c.190 p.F65fs 0.997 NULL pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 46 0 0 49 18 26.8657 CFH 0 genome.wustl.edu 37 1 196642420 196642420 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 196642420 196642420 T - DEL CFH ENST00000496761 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CFH HGNC ENSG00000000971 9 0 0 2 6 75 RNPEP 0 genome.wustl.edu 37 1 201966518 201966518 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 201966518 201966518 C - DEL RNPEP ENST00000295640 human ensembl 74_37 +1 known frame_shift_del c.926 p.C311fs 0.999 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 154 0 0 99 44 30.7692 PTPN7 0 genome.wustl.edu 37 1 202128509 202128510 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 202128509 202128510 - C INS PTPN7 ENST00000309017 human ensembl 74_37 -1 known frame_shift_ins c.337_336 p.R112fs 0.041:0.040 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 85 0 0 50 25 33.3333 ZC3H11A 0 genome.wustl.edu 37 1 203816504 203816504 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 203816504 203816504 A - DEL ZC3H11A ENST00000332127 human ensembl 74_37 +1 known frame_shift_del c.1235 p.K414fs 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 56 0 0 43 22 33.8462 PLEKHA6 0 genome.wustl.edu 37 1 204210890 204210891 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 204210890 204210891 - G INS PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_ins c.2225_2224 p.L742fs 0.671:0.669 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 120 0 0 69 31 31 IKBKE 0 genome.wustl.edu 37 1 206652330 206652330 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 206652330 206652330 C - DEL IKBKE ENST00000367120 human ensembl 74_37 +1 known frame_shift_del c.1037 p.R348fs 0.936 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IKBKE HGNC ENSG00000143466 193 1 0.515464 142 32 18.3908 CD34 0 genome.wustl.edu 37 1 208063101 208063102 + Frame_Shift_Del DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 208063101 208063102 AA - DEL CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_del c.82_81 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 31 0 0 12 9 42.8571 CAMK2N1 0 genome.wustl.edu 37 1 20810079 20810079 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 20810079 20810079 T - DEL CAMK2N1 ENST00000489020 human ensembl 74_37 -1 known rna NULL NULL 0.949 - - - no_errors CAMK2N1 HGNC ENSG00000162545 39 0 0 21 17 44.7368 PLXNA2 0 genome.wustl.edu 37 1 208315786 208315787 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 208315786 208315787 - G INS PLXNA2 ENST00000367033 human ensembl 74_37 -1 known frame_shift_ins c.1394_1393 p.H465fs 1.000:1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 183 0 0 107 25 18.9394 KCTD3 0 genome.wustl.edu 37 1 215747171 215747171 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 215747171 215747171 T - DEL KCTD3 ENST00000259154 human ensembl 74_37 +1 known frame_shift_del c.126 p.S45fs 0.199 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 145 0 0 90 44 32.8358 ALPL 0 genome.wustl.edu 37 1 21902394 21902394 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 21902394 21902394 C - DEL ALPL ENST00000374832 human ensembl 74_37 +1 known frame_shift_del c.1166 p.R391fs 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 205 0 0 130 49 27.3743 USP48 0 genome.wustl.edu 37 1 22033386 22033388 + In_Frame_Del DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 22033386 22033388 AAA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel in_frame_del c.1975_1973 p.F658in_frame_del 0.000:0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 36 0 0 33 11 25 COG2 0 genome.wustl.edu 37 1 230798959 230798959 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 230798959 230798959 A - DEL COG2 ENST00000366669 human ensembl 74_37 +1 known frame_shift_del c.373 p.K127fs 0.935 pfam_COG_su2_N pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 66 0 0 43 16 27.1186 C1orf131 0 genome.wustl.edu 37 1 231362468 231362468 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 231362468 231362468 C - DEL C1orf131 ENST00000495795 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf131 HGNC ENSG00000143633 73 0 0 67 24 26.3736 TARBP1 0 genome.wustl.edu 37 1 234563382 234563382 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 234563382 234563382 T - DEL TARBP1 ENST00000040877 human ensembl 74_37 -1 novel frame_shift_del c.3191 p.N1064fs 0.715 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 43 0 0 28 10 26.3158 LYST 0 genome.wustl.edu 37 1 235922628 235922631 + Frame_Shift_Del DEL ACAA ACAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 235922628 235922631 ACAA - DEL LYST ENST00000389793 human ensembl 74_37 -1 known frame_shift_del c.6525_6522 p.C2175fs 1.000:1.000:0.999:0.857 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 131 0 0 93 32 25.6 HNRNPR 0 genome.wustl.edu 37 1 23636875 23636876 + RNA DEL TT TT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 23636875 23636876 TT - DEL HNRNPR ENST00000476660 human ensembl 74_37 -1 known rna NULL NULL 0.936:0.942 - - - no_errors HNRNPR HGNC ENSG00000125944 97 0 0 58 22 27.5 FMN2 0 genome.wustl.edu 37 1 240601362 240601362 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 240601362 240601362 T - DEL FMN2 ENST00000319653 human ensembl 74_37 +1 known frame_shift_del c.4912 p.L1639fs 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 127 0 0 111 27 19.5652 SCCPDH 0 genome.wustl.edu 37 1 246923498 246923499 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 246923498 246923499 - T INS SCCPDH ENST00000366510 human ensembl 74_37 +1 known frame_shift_ins c.959_960 p.S322fs 0.998:1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 55 0 0 41 15 26.7857 ZNF496 0 genome.wustl.edu 37 1 247486457 247486457 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 247486457 247486457 G - DEL ZNF496 ENST00000366498 human ensembl 74_37 -1 known frame_shift_del c.650 p.P217fs 0.998 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 69 0 0 57 27 32.1429 TMEM57 0 genome.wustl.edu 37 1 25775375 25775375 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 25775375 25775375 T - DEL TMEM57 ENST00000374343 human ensembl 74_37 +1 known frame_shift_del c.299 p.F102fs 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 52 0 0 47 17 26.5625 BAI2 0 genome.wustl.edu 37 1 32201169 32201169 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 32201169 32201169 C - DEL BAI2 ENST00000465256 human ensembl 74_37 -1 known rna NULL NULL 0.865 - - - no_errors BAI2 HGNC ENSG00000121753 35 0 0 14 12 46.1538 KIAA1522 0 genome.wustl.edu 37 1 33236735 33236735 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 33236735 33236735 C - DEL KIAA1522 ENST00000401073 human ensembl 74_37 +1 known frame_shift_del c.1955 p.L654fs 0.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 137 0 0 100 52 34.2105 YARS 0 genome.wustl.edu 37 1 33263483 33263483 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 33263483 33263483 T - DEL YARS ENST00000466052 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors YARS HGNC ENSG00000134684 19 0 0 19 11 36.6667 MEGF6 0 genome.wustl.edu 37 1 3410404 3410404 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 3410404 3410404 C - DEL MEGF6 ENST00000356575 human ensembl 74_37 -1 known frame_shift_del c.4318 p.A1440fs 0.000 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 14 0 0 4 3 42.8571 DLGAP3 0 genome.wustl.edu 37 1 35370731 35370731 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 35370731 35370731 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.254 p.G85fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 12 0 0 6 4 40 MAP7D1 0 genome.wustl.edu 37 1 36636626 36636626 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 36636626 36636626 C - DEL MAP7D1 ENST00000373151 human ensembl 74_37 +1 known frame_shift_del c.101 p.P36fs 0.090 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 94 0 0 71 21 22.8261 C1orf109 0 genome.wustl.edu 37 1 38148850 38148850 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 38148850 38148850 A - DEL C1orf109 ENST00000609516 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf109 HGNC ENSG00000116922 123 0 0 75 36 32.4324 CTPS1 0 genome.wustl.edu 37 1 41467918 41467919 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 41467918 41467919 - T INS CTPS1 ENST00000372616 human ensembl 74_37 +1 known frame_shift_ins c.1181_1182 p.L396fs 1.000:0.993 pfam_GATASE,pfam_Peptidase_C26,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 83 0 0 46 36 43.9024 MAST2 0 genome.wustl.edu 37 1 46494559 46494559 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 46494559 46494559 T - DEL MAST2 ENST00000361297 human ensembl 74_37 +1 known frame_shift_del c.2172 p.F726fs 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 276 1 0.361011 184 69 27.2727 FAAH 0 genome.wustl.edu 37 1 46871370 46871370 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 46871370 46871370 C - DEL FAAH ENST00000243167 human ensembl 74_37 +1 known frame_shift_del c.689 p.L232fs 1.000 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 157 0 0 84 46 35.3846 HOOK1 0 genome.wustl.edu 37 1 60314140 60314140 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 60314140 60314140 A - DEL HOOK1 ENST00000371208 human ensembl 74_37 +1 known frame_shift_del c.1083 p.A364fs 0.150 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 106 0 0 82 25 23.3645 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 44 0 0 30 18 37.5 KANK4 0 genome.wustl.edu 37 1 62740426 62740427 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 62740426 62740427 - G INS KANK4 ENST00000371153 human ensembl 74_37 -1 known frame_shift_ins c.350_349 p.Q117fs 0.000:0.001 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 83 0 0 63 24 27.5862 DOCK7 0 genome.wustl.edu 37 1 62941104 62941104 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 62941104 62941104 A - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DOCK7 HGNC ENSG00000116641 24 0 0 18 8 30.7692 ALG6 0 genome.wustl.edu 37 1 63836751 63836751 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 63836751 63836751 A - DEL ALG6 ENST00000487136 human ensembl 74_37 +1 known frame_shift_del c.103 p.T38fs 0.000 NULL NULL - no_errors ALG6 HGNC ENSG00000088035 50 0 0 33 14 29.7872 RAVER2 0 genome.wustl.edu 37 1 65296646 65296647 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 65296646 65296647 - A INS RAVER2 ENST00000294428 human ensembl 74_37 +1 known frame_shift_ins c.2054_2055 p.K688fs 0.998:0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 158 0 0 114 48 29.6296 NOL9 0 genome.wustl.edu 37 1 6605171 6605171 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 6605171 6605171 T - DEL NOL9 ENST00000377705 human ensembl 74_37 -1 known frame_shift_del c.814 p.R272fs 0.002 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 105 0 0 76 41 35.0427 LRRC7 0 genome.wustl.edu 37 1 70504693 70504693 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 70504693 70504693 A - DEL LRRC7 ENST00000035383 human ensembl 74_37 +1 known frame_shift_del c.3072 p.V1027fs 0.001 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 37 0 0 21 13 38.2353 ZRANB2 0 genome.wustl.edu 37 1 71544212 71544212 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 71544212 71544212 C - DEL ZRANB2 ENST00000370920 human ensembl 74_37 -1 known frame_shift_del c.146 p.G49fs 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 136 0 0 115 42 26.7516 USP33 0 genome.wustl.edu 37 1 78189100 78189100 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 78189100 78189100 T - DEL USP33 ENST00000357428 human ensembl 74_37 -1 known frame_shift_del c.1398 p.K466fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 17 0 0 21 6 22.2222 PKN2 0 genome.wustl.edu 37 1 89206848 89206848 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 89206848 89206848 A - DEL PKN2 ENST00000370521 human ensembl 74_37 +1 known frame_shift_del c.226 p.S78fs 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 30 0 0 15 21 58.3333 TGFBR3 0 genome.wustl.edu 37 1 92177814 92177814 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 92177814 92177814 G - DEL TGFBR3 ENST00000212355 human ensembl 74_37 -1 known frame_shift_del c.2152 p.Q718fs 0.274 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 43 0 0 23 11 32.3529 EVI5 0 genome.wustl.edu 37 1 93073081 93073081 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 93073081 93073081 A - DEL EVI5 ENST00000492513 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EVI5 HGNC ENSG00000067208 24 0 0 5 4 44.4444 MTF2 0 genome.wustl.edu 37 1 93594818 93594818 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 93594818 93594818 T - DEL MTF2 ENST00000489480 human ensembl 74_37 +1 known rna NULL NULL 0.815 - - - no_errors MTF2 HGNC ENSG00000143033 31 0 0 33 17 34 ABCD3 0 genome.wustl.edu 37 1 94982785 94982785 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 1 94982785 94982785 A - DEL ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ABCD3 HGNC ENSG00000117528 22 0 0 16 5 23.8095 CNNM1 0 genome.wustl.edu 37 10 101089318 101089318 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 101089318 101089318 G - DEL CNNM1 ENST00000356713 human ensembl 74_37 +1 known frame_shift_del c.174 p.G60fs 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 11 0 0 5 6 54.5455 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992926 + RNA DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 101992924 101992926 AAA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180:0.200 - - - no_errors CWF19L1 HGNC ENSG00000095485 59 0 0 27 24 47.0588 PDZD7 0 genome.wustl.edu 37 10 102789811 102789811 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 102789811 102789811 G - DEL PDZD7 ENST00000370215 human ensembl 74_37 -1 known frame_shift_del c.166 p.R56fs 0.998 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 156 0 0 95 31 24.6032 HPS6 0 genome.wustl.edu 37 10 103827533 103827533 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 103827533 103827533 C - DEL HPS6 ENST00000299238 human ensembl 74_37 +1 known frame_shift_del c.2302 p.P769fs 1.000 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 115 0 0 64 20 23.8095 VTI1A 0 genome.wustl.edu 37 10 114428018 114428019 + Frame_Shift_Del DEL AG AG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 114428018 114428019 AG - DEL VTI1A ENST00000393077 human ensembl 74_37 +1 known frame_shift_del c.469_470 p.E158fs 1.000:1.000 smart_T_SNARE_dom pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1A HGNC ENSG00000151532 50 0 0 36 13 26.5306 NHLRC2 0 genome.wustl.edu 37 10 115662308 115662308 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 115662308 115662308 A - DEL NHLRC2 ENST00000369301 human ensembl 74_37 +1 known frame_shift_del c.1450 p.R486fs 0.833 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 114 0 0 106 40 27.3973 KIAA1598 0 genome.wustl.edu 37 10 118708437 118708437 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 118708437 118708437 T - DEL KIAA1598 ENST00000392903 human ensembl 74_37 -1 known frame_shift_del c.606 p.K202fs 1.000 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 23 0 0 15 9 37.5 CHST15 0 genome.wustl.edu 37 10 125780753 125780755 + In_Frame_Del DEL GGG GGG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GGG GGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 125780753 125780755 GGG - DEL CHST15 ENST00000421115 human ensembl 74_37 -1 known in_frame_del c.1366_1364 p.P455in_frame_del 0.985:0.982:0.979 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 19 0 0 11 11 50 ZRANB1 0 genome.wustl.edu 37 10 126673561 126673561 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 126673561 126673561 A - DEL ZRANB1 ENST00000359653 human ensembl 74_37 +1 known frame_shift_del c.2127 p.*709fs 0.994 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 16 0 0 20 5 20 NKX6-2 0 genome.wustl.edu 37 10 134598431 134598431 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 134598431 134598431 C - DEL NKX6-2 ENST00000368592 human ensembl 74_37 -1 known frame_shift_del c.823 p.D275fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-2 HGNC ENSG00000148826 36 0 0 19 10 34.4828 CUBN 0 genome.wustl.edu 37 10 17107573 17107574 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 17107573 17107574 - A INS CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_ins c.3073_3072 p.V1024fs 1.000:0.870 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 186 0 0 128 53 29.2818 PTPLA 0 genome.wustl.edu 37 10 17636370 17636370 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 17636370 17636370 A - DEL PTPLA ENST00000361271 human ensembl 74_37 -1 known frame_shift_del c.618 p.F206fs 1.000 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA - no_errors PTPLA HGNC ENSG00000165996 66 0 0 49 17 25.7576 101928757 0 genome.wustl.edu 37 10 17908612 17908612 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 17908612 17908612 G - DEL 101928757 ENST00000331429 human ensembl 74_37 +1 novel frame_shift_del c.1825 p.G610fs 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 184 0 0 158 11 6.50888 PTCHD3 0 genome.wustl.edu 37 10 27687763 27687763 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 27687763 27687763 A - DEL PTCHD3 ENST00000438700 human ensembl 74_37 -1 known frame_shift_del c.1764 p.F588fs 0.992 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 52 0 0 31 23 42.5926 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 20 0 0 16 6 27.2727 C10orf68 0 genome.wustl.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 33018277 33018277 A - DEL C10orf68 ENST00000375025 human ensembl 74_37 +1 known frame_shift_del c.718 p.K242fs 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 65 0 0 41 20 32.7869 ANK3 0 genome.wustl.edu 37 10 61823946 61823946 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 61823946 61823946 T - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.12420 p.K4140fs 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 78 0 0 106 7 6.19469 CDK1 0 genome.wustl.edu 37 10 62551805 62551805 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 62551805 62551805 T - DEL CDK1 ENST00000395284 human ensembl 74_37 +1 known frame_shift_del c.647 p.F217fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK1 HGNC ENSG00000170312 43 0 0 53 10 15.873 TET1 0 genome.wustl.edu 37 10 70332153 70332153 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 70332153 70332153 A - DEL TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_del c.58 p.K22fs 0.855 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 30 0 0 17 7 29.1667 CCAR1 0 genome.wustl.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 70509285 70509286 GA - DEL CCAR1 ENST00000265872 human ensembl 74_37 +1 known frame_shift_del c.961_962 p.R324fs 1.000:1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 30 0 0 19 16 45.7143 ADAMTS14 0 genome.wustl.edu 37 10 72520485 72520485 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 72520485 72520485 C - DEL ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known frame_shift_del c.3557 p.1190fs 0.109 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 70 0 0 55 15 21.4286 KCNMA1 0 genome.wustl.edu 37 10 78729786 78729786 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 78729786 78729786 T - DEL KCNMA1 ENST00000406533 human ensembl 74_37 -1 known frame_shift_del c.2318 p.K773fs 1.000 prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 67 0 0 40 17 29.8246 ZMIZ1 0 genome.wustl.edu 37 10 81067262 81067262 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 81067262 81067262 C - DEL ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known frame_shift_del c.2769 p.P925fs 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 69 0 0 60 18 23.0769 ZMIZ1 0 genome.wustl.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 81072446 81072446 C - DEL ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known frame_shift_del c.3144 p.D1051fs 0.963 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 269 0 0 182 73 28.6275 SH2D4B 0 genome.wustl.edu 37 10 82403842 82403842 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 82403842 82403842 T - DEL SH2D4B ENST00000372150 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SH2D4B HGNC ENSG00000178217 38 0 0 32 10 23.8095 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 92 0 0 61 34 35.7895 KIF20B 0 genome.wustl.edu 37 10 91514406 91514406 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 91514406 91514406 T - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.4569 p.F1525fs 0.322 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 86 0 0 52 32 38.0952 HECTD2 0 genome.wustl.edu 37 10 93247481 93247481 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 93247481 93247481 A - DEL HECTD2 ENST00000446394 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 132 0 0 106 39 26.8966 IDE 0 genome.wustl.edu 37 10 94243044 94243045 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 94243044 94243045 - A INS IDE ENST00000265986 human ensembl 74_37 -1 known frame_shift_ins c.1707_1706 p.L569fs 1.000:1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 33 0 0 36 6 14.2857 ZNF518A 0 genome.wustl.edu 37 10 97920218 97920218 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 97920218 97920218 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.630 - - - no_errors ZNF518A HGNC ENSG00000177853 83 0 0 61 28 31.4607 TM9SF3 0 genome.wustl.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 98336475 98336475 T - DEL TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 132 1 0.75188 91 30 24.7934 C10orf12 0 genome.wustl.edu 37 10 98742785 98742785 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 10 98742785 98742785 A - DEL C10orf12 ENST00000286067 human ensembl 74_37 +1 known frame_shift_del c.1638 p.E549fs 1.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 95 0 0 59 31 34.4444 MMP10 0 genome.wustl.edu 37 11 102647146 102647146 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 102647146 102647146 G - DEL MMP10 ENST00000279441 human ensembl 74_37 -1 known frame_shift_del c.797 p.P266fs 0.002 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP10 HGNC ENSG00000166670 62 0 0 40 27 40.2985 LOC643733 0 genome.wustl.edu 37 11 104776330 104776330 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 104776330 104776330 T - DEL LOC643733 ENST00000532510 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-693N9.2 Clone_based_vega_gene ENSG00000235505 20 0 0 8 7 46.6667 C11orf87 0 genome.wustl.edu 37 11 109294696 109294696 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 109294696 109294696 G - DEL C11orf87 ENST00000327419 human ensembl 74_37 +1 known frame_shift_del c.337 p.L115fs 1.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors C11orf87 HGNC ENSG00000185742 115 0 0 69 32 31.6832 ARHGAP20 0 genome.wustl.edu 37 11 110582936 110582936 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 110582936 110582936 G - DEL ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known frame_shift_del c.19 p.Q7fs 1.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 16 0 0 8 3 27.2727 C11orf57 0 genome.wustl.edu 37 11 111953459 111953460 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 111953459 111953460 - A INS C11orf57 ENST00000393047 human ensembl 74_37 +1 known frame_shift_ins c.645_646 p.P217fs 0.987:0.988 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 81 0 0 53 28 34.5679 PCSK7 0 genome.wustl.edu 37 11 117095431 117095431 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 117095431 117095431 G - DEL PCSK7 ENST00000320934 human ensembl 74_37 -1 known frame_shift_del c.901 p.H301fs 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 391 0 0 265 92 25.7703 FOXR1 0 genome.wustl.edu 37 11 118850287 118850287 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 118850287 118850287 C - DEL FOXR1 ENST00000317011 human ensembl 74_37 +1 known frame_shift_del c.520 p.P175fs 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR1 HGNC ENSG00000176302 104 0 0 94 40 29.8507 MFRP 0 genome.wustl.edu 37 11 119213688 119213688 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 119213688 119213688 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.1150 p.H384fs 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 20 0 0 7 4 36.3636 C11orf63 0 genome.wustl.edu 37 11 122775058 122775058 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 122775058 122775058 A - DEL C11orf63 ENST00000227349 human ensembl 74_37 +1 known frame_shift_del c.770 p.N259fs 1.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 271 0 0 153 86 35.9833 MUC5B 0 genome.wustl.edu 37 11 1251778 1251780 + In_Frame_Del DEL ACA ACA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 1251778 1251780 ACA - DEL MUC5B ENST00000447027 human ensembl 74_37 +1 known in_frame_del c.1427_1429 p.N477in_frame_del 0.971:0.891:0.458 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 38 0 0 28 8 22.2222 SRPR 0 genome.wustl.edu 37 11 126136150 126136150 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 126136150 126136150 C - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.864 p.Q289fs 0.993 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 158 1 0.628931 118 39 24.8408 NCAPD3 0 genome.wustl.edu 37 11 134048586 134048586 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 134048586 134048586 G - DEL NCAPD3 ENST00000534548 human ensembl 74_37 -1 known frame_shift_del c.2725 p.Q909fs 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 102 0 0 61 21 25.6098 USH1C 0 genome.wustl.edu 37 11 17531251 17531251 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 17531251 17531251 G - DEL USH1C ENST00000005226 human ensembl 74_37 -1 known frame_shift_del c.1665 p.K556fs 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 27 0 0 17 9 34.6154 SAAL1 0 genome.wustl.edu 37 11 18105214 18105214 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 18105214 18105214 T - DEL SAAL1 ENST00000524803 human ensembl 74_37 -1 known frame_shift_del c.1107 p.K369fs 0.999 NULL superfamily_ARM-type_fold - no_errors SAAL1 HGNC ENSG00000166788 54 0 0 38 29 43.2836 NAV2 0 genome.wustl.edu 37 11 19955389 19955389 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 19955389 19955389 A - DEL NAV2 ENST00000396087 human ensembl 74_37 +1 known frame_shift_del c.1668 p.K558fs 0.723 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 149 0 0 90 34 27.4194 QSER1 0 genome.wustl.edu 37 11 32990615 32990615 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 32990615 32990615 A - DEL QSER1 ENST00000399302 human ensembl 74_37 +1 known frame_shift_del c.4744 p.I1584fs 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 86 0 0 94 42 30.8824 QSER1 0 genome.wustl.edu 37 11 32997895 32997895 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 32997895 32997895 A - DEL QSER1 ENST00000399302 human ensembl 74_37 +1 known frame_shift_del c.5083 p.N1697fs 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 32 0 0 30 16 34.7826 APIP 0 genome.wustl.edu 37 11 34904191 34904191 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 34904191 34904191 A - DEL APIP ENST00000527830 human ensembl 74_37 -1 known rna NULL NULL 0.918 - - - no_errors APIP HGNC ENSG00000149089 18 0 0 17 7 29.1667 LRP4 0 genome.wustl.edu 37 11 46921056 46921057 + Splice_Site INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 46921056 46921057 - G INS LRP4 ENST00000378623 human ensembl 74_37 -1 known splice_site_ins c.431-3_431-2 e5-2 1.000:0.994 - - - no_errors LRP4 HGNC ENSG00000134569 134 0 0 71 33 31.7308 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 96 0 0 59 17 22.3684 OR52A5 0 genome.wustl.edu 37 11 5153679 5153679 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 5153679 5153679 A - DEL OR52A5 ENST00000307388 human ensembl 74_37 -1 known frame_shift_del c.194 p.L65fs 0.870 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 OR52A5 HGNC ENSG00000171944 70 0 0 58 24 29.2683 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 43 0 0 42 10 19.2308 ENSG00000254815 0 genome.wustl.edu 37 11 558069 558069 + RNA DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 558069 558069 G - DEL ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 59 0 0 39 13 25 OR5AR1 0 genome.wustl.edu 37 11 56431466 56431467 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 56431466 56431467 - T INS OR5AR1 ENST00000302969 human ensembl 74_37 +1 known frame_shift_ins c.305_306 p.V105fs 0.829:0.634 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 OR5AR1 HGNC ENSG00000172459 228 0 0 165 77 31.8182 TNKS1BP1 0 genome.wustl.edu 37 11 57070218 57070219 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 57070218 57070219 - T INS TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known frame_shift_ins c.4398_4397 p.A1467fs 0.006:0.001 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 9 0 0 7 4 36.3636 OR5B12 0 genome.wustl.edu 37 11 58207126 58207128 + In_Frame_Del DEL AGA AGA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 58207126 58207128 AGA - DEL OR5B12 ENST00000302572 human ensembl 74_37 -1 known in_frame_del c.499_497 p.F166in_frame_del 0.998:0.883:0.848 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 61 0 0 39 29 42.6471 ROM1 0 genome.wustl.edu 37 11 62381084 62381084 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 62381084 62381084 G - DEL ROM1 ENST00000278833 human ensembl 74_37 +1 known frame_shift_del c.331 p.L114fs 0.023 pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 41 0 0 37 13 26 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 72 0 0 62 20 24.3902 NRXN2 0 genome.wustl.edu 37 11 64375286 64375286 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 64375286 64375286 G - DEL NRXN2 ENST00000265459 human ensembl 74_37 -1 known frame_shift_del c.4521 p.T1508fs 0.926 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 16 0 0 7 8 53.3333 MEN1 0 genome.wustl.edu 37 11 64573118 64573118 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 64573118 64573118 C - DEL MEN1 ENST00000337652 human ensembl 74_37 -1 known frame_shift_del c.1189 p.E397fs 0.997 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 44 0 0 33 14 29.7872 SLC22A20 0 genome.wustl.edu 37 11 64981481 64981481 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 64981481 64981481 C - DEL SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors SLC22A20 HGNC ENSG00000197847 20 0 0 14 2 12.5 RRP8 0 genome.wustl.edu 37 11 6623374 6623374 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 6623374 6623374 G - DEL RRP8 ENST00000254605 human ensembl 74_37 -1 known frame_shift_del c.171 p.S58fs 0.000 NULL pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 113 0 0 81 26 24.2991 ILK 0 genome.wustl.edu 37 11 6629392 6629392 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 6629392 6629392 C - DEL ILK ENST00000299421 human ensembl 74_37 +1 known frame_shift_del c.206 p.L71fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 92 0 0 58 28 32.5581 ADRBK1 0 genome.wustl.edu 37 11 67051287 67051287 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 67051287 67051287 C - DEL ADRBK1 ENST00000532611 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ADRBK1 HGNC ENSG00000173020 43 0 0 22 15 40.5405 PPP1CA 0 genome.wustl.edu 37 11 67165933 67165933 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 67165933 67165933 C - DEL PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.080 - - - no_errors PPP1CA HGNC ENSG00000172531 16 0 0 5 6 54.5455 CORO1B 0 genome.wustl.edu 37 11 67209168 67209169 + Frame_Shift_Del DEL GG GG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 67209168 67209169 GG - DEL CORO1B ENST00000545016 human ensembl 74_37 -1 known frame_shift_del c.490_489 p.H164fs 0.000:0.000 NULL pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 22 0 0 19 11 36.6667 TBX10 0 genome.wustl.edu 37 11 67402373 67402373 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 67402373 67402373 G - DEL TBX10 ENST00000335385 human ensembl 74_37 -1 known frame_shift_del c.291 p.F98fs 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 69 0 0 42 14 25 KRTAP5-10 0 genome.wustl.edu 37 11 71277026 71277026 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 71277026 71277026 G - DEL KRTAP5-10 ENST00000398531 human ensembl 74_37 +1 known frame_shift_del c.393 p.G133fs 0.007 NULL NULL - no_errors KRTAP5-10 HGNC ENSG00000204572 269 0 0 196 56 22.2222 ARAP1 0 genome.wustl.edu 37 11 72396612 72396612 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 72396612 72396612 C - DEL ARAP1 ENST00000495878 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors ARAP1 HGNC ENSG00000186635 29 0 0 16 7 30.4348 ARAP1 0 genome.wustl.edu 37 11 72423617 72423617 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 72423617 72423617 C - DEL ARAP1 ENST00000393605 human ensembl 74_37 -1 known frame_shift_del c.24 p.Q9fs 0.005 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 239 0 0 145 47 24.4792 EPS8L2 0 genome.wustl.edu 37 11 726965 726965 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 726965 726965 G - DEL EPS8L2 ENST00000318562 human ensembl 74_37 +1 known frame_shift_del c.2132 p.E713fs 0.028 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 32 0 0 21 5 19.2308 POLD3 0 genome.wustl.edu 37 11 74331113 74331113 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 74331113 74331113 T - DEL POLD3 ENST00000263681 human ensembl 74_37 +1 known frame_shift_del c.712 p.F239fs 1.000 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 219 0 0 190 34 15.1786 UVRAG 0 genome.wustl.edu 37 11 75694431 75694433 + In_Frame_Del DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 75694431 75694433 AAA - DEL UVRAG ENST00000356136 human ensembl 74_37 +1 known in_frame_del c.700_702 p.K236in_frame_del 1.000:1.000:1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 20 0 0 23 14 37.8378 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 24 0 0 31 11 26.1905 TMEM41B 0 genome.wustl.edu 37 11 9308018 9308018 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 9308018 9308018 A - DEL TMEM41B ENST00000299596 human ensembl 74_37 -1 known frame_shift_del c.690 p.F230fs 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41B HGNC ENSG00000166471 104 0 0 82 40 32.7869 SCARNA9 0 genome.wustl.edu 37 11 93454921 93454921 + RNA DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 93454921 93454921 G - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 21 0 0 21 12 36.3636 AP2A2 0 genome.wustl.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 11 970195 970195 A - DEL AP2A2 ENST00000332231 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 131 1 0.757576 141 16 10.1911 KLRK1 0 genome.wustl.edu 37 12 10532376 10532376 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 10532376 10532376 A - DEL KLRK1 ENST00000240618 human ensembl 74_37 -1 known frame_shift_del c.164 p.F55fs 0.002 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 42 0 0 51 7 12.069 ALDH2 0 genome.wustl.edu 37 12 112229927 112229927 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 112229927 112229927 G - DEL ALDH2 ENST00000261733 human ensembl 74_37 +1 known frame_shift_del c.858 p.K289fs 0.991 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 107 1 0.925926 41 24 36.9231 TMEM116 0 genome.wustl.edu 37 12 112369427 112369427 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 112369427 112369427 A - DEL TMEM116 ENST00000552374 human ensembl 74_37 -1 known frame_shift_del c.1012 p.*338fs 0.999 NULL prints_GCR1-cAMP_receptor - no_errors TMEM116 HGNC ENSG00000198270 88 0 0 44 35 44.3038 RNF10 0 genome.wustl.edu 37 12 121014514 121014514 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 121014514 121014514 T - DEL RNF10 ENST00000535470 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RNF10 HGNC ENSG00000022840 106 0 0 87 32 26.8908 VPS37B 0 genome.wustl.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 123351892 123351892 G - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629 p.P210fs 0.609 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 19 0 0 16 8 33.3333 TMEM132D 0 genome.wustl.edu 37 12 130184704 130184705 + Frame_Shift_Ins INS - - GG TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 130184704 130184705 - GG INS TMEM132D ENST00000422113 human ensembl 74_37 -1 known frame_shift_ins c.619_618 p.T206fs 0.073:0.027 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 48 0 0 36 13 26.5306 TMEM132D 0 genome.wustl.edu 37 12 130184705 130184705 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 130184705 130184705 G - DEL TMEM132D ENST00000422113 human ensembl 74_37 -1 known frame_shift_del c.618 p.T207fs 0.027 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 48 0 0 36 13 26.5306 EMP1 0 genome.wustl.edu 37 12 13364427 13364429 + RNA DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 13364427 13364429 AAA - DEL EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors EMP1 HGNC ENSG00000134531 106 0 0 70 39 35.7798 HIST4H4 0 genome.wustl.edu 37 12 14923723 14923724 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 14923723 14923724 - A INS HIST4H4 ENST00000358064 human ensembl 74_37 -1 known frame_shift_ins c.296_295 p.Y99fs 1.000:0.991 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST4H4 HGNC ENSG00000197837 101 0 0 47 23 32.8571 PLEKHA5 0 genome.wustl.edu 37 12 19460407 19460408 + RNA INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 19460407 19460408 - A INS PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.923:0.931 - - - no_errors PLEKHA5 HGNC ENSG00000052126 22 0 0 16 6 27.2727 RECQL 0 genome.wustl.edu 37 12 21644547 21644547 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 21644547 21644547 T - DEL RECQL ENST00000421138 human ensembl 74_37 -1 known frame_shift_del c.120 p.V41fs 0.001 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 54 0 0 30 13 30.2326 FAM60A 0 genome.wustl.edu 37 12 31448177 31448178 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 31448177 31448178 - T INS FAM60A ENST00000337682 human ensembl 74_37 -1 known frame_shift_ins c.219_218 p.N73fs 1.000:1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 46 0 0 29 19 39.5833 PLEKHA8P1 0 genome.wustl.edu 37 12 45566878 45566878 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 45566878 45566878 T - DEL PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 8 0 0 3 6 66.6667 KMT2D 0 genome.wustl.edu 37 12 49448408 49448408 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 49448408 49448408 C - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.303 p.S102fs 0.952 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 20 0 0 15 8 34.7826 ACVR1B 0 genome.wustl.edu 37 12 52345607 52345607 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 52345607 52345607 G - DEL ACVR1B ENST00000257963 human ensembl 74_37 +1 known frame_shift_del c.80 p.V29fs 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 15 0 0 13 5 27.7778 MAP3K12 0 genome.wustl.edu 37 12 53877706 53877708 + In_Frame_Del DEL CCT CCT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 53877706 53877708 CCT - DEL MAP3K12 ENST00000267079 human ensembl 74_37 -1 known in_frame_del c.1248_1246 p.R416in_frame_del 1.000:1.000:0.990 pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 225 1 0.442478 171 54 24 OR6C76 0 genome.wustl.edu 37 12 55820959 55820960 + Frame_Shift_Del DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 55820959 55820960 AA - DEL OR6C76 ENST00000328314 human ensembl 74_37 +1 known frame_shift_del c.922_923 p.K311fs 0.016:0.019 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 31 0 0 22 16 42.1053 RPL41 0 genome.wustl.edu 37 12 56510435 56510435 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 56510435 56510435 T - DEL RPL41 ENST00000358888 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL41 HGNC ENSG00000229117 33 0 0 20 10 33.3333 SMARCC2 0 genome.wustl.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 56559113 56559113 G - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_del c.3128 p.P1043fs 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 109 0 0 98 32 24.6154 TIMELESS 0 genome.wustl.edu 37 12 56818901 56818903 + In_Frame_Del DEL CTT CTT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 56818901 56818903 CTT - DEL TIMELESS ENST00000553532 human ensembl 74_37 -1 known in_frame_del c.1614_1612 p.K538in_frame_del 0.826:0.902:0.955 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 81 0 0 59 21 26.25 NAB2 0 genome.wustl.edu 37 12 57485461 57485461 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 57485461 57485461 G - DEL NAB2 ENST00000300131 human ensembl 74_37 +1 known frame_shift_del c.637 p.G214fs 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 48 0 0 14 21 60 MBD6 0 genome.wustl.edu 37 12 57920756 57920758 + In_Frame_Del DEL CTT CTT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 57920756 57920758 CTT - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known in_frame_del c.1828_1830 p.L611in_frame_del 0.994:0.894:0.707 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 208 0 0 142 51 26.4249 DCTN2 0 genome.wustl.edu 37 12 57927805 57927806 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 57927805 57927806 - G INS DCTN2 ENST00000434715 human ensembl 74_37 -1 known frame_shift_ins c.615_614 p.D206fs 0.994:0.993 NULL NULL - no_errors DCTN2 HGNC ENSG00000175203 90 0 0 47 22 31.8841 AVPR1A 0 genome.wustl.edu 37 12 63544421 63544421 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 63544421 63544421 C - DEL AVPR1A ENST00000299178 human ensembl 74_37 -1 known frame_shift_del c.196 p.V66fs 0.996 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 60 0 0 33 21 38.8889 WIF1 0 genome.wustl.edu 37 12 65514287 65514287 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 65514287 65514287 A - DEL WIF1 ENST00000286574 human ensembl 74_37 -1 known frame_shift_del c.198 p.F66fs 0.997 pfam_WIF,smart_WIF,pfscan_WIF,prints_Wnt-inh pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 103 0 0 59 26 30.5882 COPS7A 0 genome.wustl.edu 37 12 6839847 6839847 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 6839847 6839847 A - DEL COPS7A ENST00000229251 human ensembl 74_37 +1 known frame_shift_del c.649 p.T219fs 0.969 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS7A HGNC ENSG00000111652 74 0 0 51 20 28.169 ATN1 0 genome.wustl.edu 37 12 7045390 7045390 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 7045390 7045390 G - DEL ATN1 ENST00000356654 human ensembl 74_37 +1 known frame_shift_del c.960 p.A322fs 1.000 NULL pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 97 0 0 79 35 30.7018 LUM 0 genome.wustl.edu 37 12 91502682 91502682 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 91502682 91502682 A - DEL LUM ENST00000266718 human ensembl 74_37 -1 known frame_shift_del c.75 p.L27fs 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 66 0 0 49 16 24.6154 EEA1 0 genome.wustl.edu 37 12 93213103 93213103 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 93213103 93213103 T - DEL EEA1 ENST00000322349 human ensembl 74_37 -1 known frame_shift_del c.1709 p.N570fs 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 70 0 0 63 27 30 PLXNC1 0 genome.wustl.edu 37 12 94620983 94620984 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 94620983 94620984 - G INS PLXNC1 ENST00000258526 human ensembl 74_37 +1 known frame_shift_ins c.1952_1953 p.N653fs 0.000:0.001 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 65 0 0 62 22 26.1905 TMPO 0 genome.wustl.edu 37 12 98921672 98921672 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 12 98921672 98921672 A - DEL TMPO ENST00000266732 human ensembl 74_37 +1 known frame_shift_del c.288 p.T99fs 1.000 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 84 0 0 73 33 31.1321 GAS6 0 genome.wustl.edu 37 13 114523857 114523858 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 114523857 114523858 - G INS GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_ins c.2146_2145 p.V715fs 0.007:0.008 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 60 0 0 53 16 23.1884 ZMYM2 0 genome.wustl.edu 37 13 20657094 20657094 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 20657094 20657094 A - DEL ZMYM2 ENST00000382869 human ensembl 74_37 +1 known frame_shift_del c.3742 p.N1250fs 1.000 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 62 0 0 41 15 26.7857 SLC46A3 0 genome.wustl.edu 37 13 29278265 29278265 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 29278265 29278265 A - DEL SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC46A3 HGNC ENSG00000139508 19 0 0 20 30 60 HMGB1 0 genome.wustl.edu 37 13 31037600 31037600 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 31037600 31037600 T - DEL HMGB1 ENST00000468384 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HMGB1 HGNC ENSG00000189403 56 0 0 30 21 41.1765 MEDAG 0 genome.wustl.edu 37 13 31480852 31480852 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 31480852 31480852 G - DEL MEDAG ENST00000380482 human ensembl 74_37 +1 known frame_shift_del c.200 p.G69fs 0.590 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 8 0 0 10 6 37.5 RFC3 0 genome.wustl.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 34398063 34398063 A - DEL RFC3 ENST00000380071 human ensembl 74_37 +1 known frame_shift_del c.235 p.I82fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 17 0 0 22 5 18.5185 FREM2 0 genome.wustl.edu 37 13 39450287 39450290 + Splice_Site DEL GTAA GTAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 39450287 39450290 GTAA - DEL FREM2 ENST00000280481 human ensembl 74_37 +1 known splice_site_del c.8409+1_8409+1 e19+1 1.000:1.000:1.000:1.000 - - - no_errors FREM2 HGNC ENSG00000150893 242 0 0 207 11 5.04587 COG6 0 genome.wustl.edu 37 13 40273702 40273702 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 40273702 40273702 A - DEL COG6 ENST00000455146 human ensembl 74_37 +1 known frame_shift_del c.1231 p.I413fs 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 25 0 0 24 11 31.4286 NAA16 0 genome.wustl.edu 37 13 41941577 41941577 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 41941577 41941577 T - DEL NAA16 ENST00000379406 human ensembl 74_37 +1 known frame_shift_del c.1542 p.F516fs 1.000 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 49 0 0 30 17 36.1702 HTR2A 0 genome.wustl.edu 37 13 47469818 47469818 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 47469818 47469818 T - DEL HTR2A ENST00000378688 human ensembl 74_37 -1 known frame_shift_del c.224 p.N75fs 1.000 prints_5HT2A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 72 0 0 46 29 38.6667 RCBTB2 0 genome.wustl.edu 37 13 49089392 49089392 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 49089392 49089392 T - DEL RCBTB2 ENST00000430805 human ensembl 74_37 -1 known frame_shift_del c.313 p.I105fs 1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 157 0 0 111 60 35.0877 CAB39L 0 genome.wustl.edu 37 13 49933960 49933960 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 49933960 49933960 T - DEL CAB39L ENST00000347776 human ensembl 74_37 -1 known frame_shift_del c.285 p.D96fs 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 68 0 0 36 15 29.4118 RCBTB1 0 genome.wustl.edu 37 13 50140831 50140831 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 50140831 50140831 T - DEL RCBTB1 ENST00000258646 human ensembl 74_37 -1 known frame_shift_del c.200 p.K67fs 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 90 0 0 78 24 23.5294 ALG11 0 genome.wustl.edu 37 13 52593050 52593050 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 52593050 52593050 T - DEL ALG11 ENST00000521508 human ensembl 74_37 +1 known frame_shift_del c.46 p.Y18fs 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 56 0 0 45 24 34.7826 CKAP2 0 genome.wustl.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 53049034 53049034 A - DEL CKAP2 ENST00000378037 human ensembl 74_37 +1 known frame_shift_del c.1810 p.K606fs 0.999 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 35 0 0 36 17 32.0755 TBC1D4 0 genome.wustl.edu 37 13 75884248 75884248 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 75884248 75884248 A - DEL TBC1D4 ENST00000377636 human ensembl 74_37 -1 known frame_shift_del c.2423 p.L808fs 0.996 pfam_DUF3350 pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 42 0 0 27 15 35.7143 EDNRB 0 genome.wustl.edu 37 13 78475266 78475267 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 78475266 78475267 - A INS EDNRB ENST00000334286 human ensembl 74_37 -1 known frame_shift_ins c.878_877 p.Y293fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 64 0 0 49 26 34.6667 PTMAP5 0 genome.wustl.edu 37 13 82264950 82264950 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 82264950 82264950 A - DEL PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors PTMAP5 HGNC ENSG00000214182 31 0 0 23 8 25.8065 DZIP1 0 genome.wustl.edu 37 13 96293910 96293910 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 96293910 96293910 T - DEL DZIP1 ENST00000347108 human ensembl 74_37 -1 known frame_shift_del c.236 p.K79fs 0.988 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 140 0 0 104 41 28.2759 UGGT2 0 genome.wustl.edu 37 13 96511867 96511867 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 96511867 96511867 T - DEL UGGT2 ENST00000376747 human ensembl 74_37 -1 known frame_shift_del c.3803 p.N1268fs 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 56 0 0 50 21 29.5775 GPR18 0 genome.wustl.edu 37 13 99908125 99908126 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 13 99908125 99908126 - T INS GPR18 ENST00000340807 human ensembl 74_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR18 HGNC ENSG00000125245 162 0 0 117 42 26.4151 MOK 0 genome.wustl.edu 37 14 102718303 102718303 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 102718303 102718303 T - DEL MOK ENST00000361847 human ensembl 74_37 -1 known frame_shift_del c.313 p.I105fs 0.007 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOK HGNC ENSG00000080823 82 0 0 63 19 23.1707 TEP1 0 genome.wustl.edu 37 14 20852773 20852773 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 20852773 20852773 C - DEL TEP1 ENST00000262715 human ensembl 74_37 -1 known frame_shift_del c.3207 p.I1070fs 0.000 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 245 0 0 178 59 24.8945 METTL17 0 genome.wustl.edu 37 14 21462740 21462740 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 21462740 21462740 T - DEL METTL17 ENST00000382985 human ensembl 74_37 +1 known frame_shift_del c.736 p.F247fs 1.000 pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 136 0 0 99 50 33.557 ZNF219 0 genome.wustl.edu 37 14 21561074 21561075 + Frame_Shift_Del DEL GC GC - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 21561074 21561075 GC - DEL ZNF219 ENST00000360947 human ensembl 74_37 -1 known frame_shift_del c.382_381 p.L128fs 0.016:0.016 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt - no_errors ZNF219 HGNC ENSG00000165804 70 0 0 30 17 36.1702 SALL2 0 genome.wustl.edu 37 14 21992276 21992276 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 21992276 21992276 G - DEL SALL2 ENST00000327430 human ensembl 74_37 -1 known frame_shift_del c.1586 p.P529fs 0.948 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 68 0 0 36 20 35.7143 CBLN3 0 genome.wustl.edu 37 14 24898086 24898087 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 24898086 24898087 - C INS CBLN3 ENST00000267406 human ensembl 74_37 -1 known frame_shift_ins c.175_174 p.P58fs 0.405:0.018 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN3 HGNC ENSG00000139899 9 0 0 6 3 33.3333 AKAP6 0 genome.wustl.edu 37 14 33015029 33015029 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 33015029 33015029 A - DEL AKAP6 ENST00000280979 human ensembl 74_37 +1 known frame_shift_del c.1170 p.R392fs 0.987 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 76 0 0 74 38 33.9286 AKAP6 0 genome.wustl.edu 37 14 33292703 33292703 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 33292703 33292703 A - DEL AKAP6 ENST00000280979 human ensembl 74_37 +1 known frame_shift_del c.5684 p.N1896fs 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 48 0 0 41 22 34.9206 NEMF 0 genome.wustl.edu 37 14 50272836 50272836 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 50272836 50272836 G - DEL NEMF ENST00000298310 human ensembl 74_37 -1 known frame_shift_del c.1760 p.P587fs 1.000 pfam_DUF814 pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 52 0 0 49 10 16.9492 ATL1 0 genome.wustl.edu 37 14 51089952 51089952 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 51089952 51089952 A - DEL ATL1 ENST00000357032 human ensembl 74_37 +1 known frame_shift_del c.1105 p.M371fs 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 36 0 0 32 14 30.4348 FERMT2 0 genome.wustl.edu 37 14 53360082 53360082 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 53360082 53360082 T - DEL FERMT2 ENST00000343279 human ensembl 74_37 -1 known frame_shift_del c.455 p.K152fs 1.000 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 84 0 0 79 38 32.4786 OTX2 0 genome.wustl.edu 37 14 57268921 57268921 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 57268921 57268921 G - DEL OTX2 ENST00000339475 human ensembl 74_37 -1 known frame_shift_del c.426 p.S143fs 1.000 NULL pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 52 0 0 39 15 27.7778 KIAA0586 0 genome.wustl.edu 37 14 58934608 58934609 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 58934608 58934609 - A INS KIAA0586 ENST00000556134 human ensembl 74_37 +1 known frame_shift_ins c.2365_2366 p.D792fs 1.000:1.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 92 0 0 65 34 34.3434 DAAM1 0 genome.wustl.edu 37 14 59835592 59835592 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 59835592 59835592 T - DEL DAAM1 ENST00000553966 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors DAAM1 HGNC ENSG00000100592 26 0 0 19 8 29.6296 PLEKHG3 0 genome.wustl.edu 37 14 65207900 65207900 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 65207900 65207900 C - DEL PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known frame_shift_del c.1665 p.P557fs 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 232 0 0 113 44 28.0255 GALNT16 0 genome.wustl.edu 37 14 69800300 69800300 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 69800300 69800300 G - DEL GALNT16 ENST00000337827 human ensembl 74_37 +1 known frame_shift_del c.950 p.G319fs 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 104 0 0 66 22 25 SIPA1L1 0 genome.wustl.edu 37 14 72090950 72090951 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 72090950 72090951 - G INS SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_ins c.1815_1816 p.L606fs 1.000:1.000 pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 56 0 0 53 21 28.3784 ELMSAN1 0 genome.wustl.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 74205773 74205773 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.939 p.N314fs 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 40 0 0 19 7 26.9231 LTBP2 0 genome.wustl.edu 37 14 74967607 74967607 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 74967607 74967607 G - DEL LTBP2 ENST00000261978 human ensembl 74_37 -1 known frame_shift_del c.5446 p.H1816fs 0.817 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 84 0 0 56 24 30 AHSA1 0 genome.wustl.edu 37 14 77935587 77935587 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 77935587 77935587 T - DEL AHSA1 ENST00000216479 human ensembl 74_37 +1 known frame_shift_del c.1012 p.*339fs 0.998 NULL pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC ENSG00000100591 160 0 0 106 50 32.0513 PTPN21 0 genome.wustl.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 88940113 88940113 T - DEL PTPN21 ENST00000328736 human ensembl 74_37 -1 known frame_shift_del c.2545 p.I849fs 0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 99 0 0 66 28 29.7872 SERPINA11 0 genome.wustl.edu 37 14 94915004 94915004 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 14 94915004 94915004 G - DEL SERPINA11 ENST00000334708 human ensembl 74_37 -1 known frame_shift_del c.108 p.R37fs 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 181 0 0 134 57 29.8429 SNORD116-6 0 genome.wustl.edu 37 15 25310192 25310193 + RNA INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 25310192 25310193 - A INS SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 150 0 0 100 37 27.0073 FAN1 0 genome.wustl.edu 37 15 31196885 31196887 + In_Frame_Del DEL CCT CCT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 31196885 31196887 CCT - DEL FAN1 ENST00000362065 human ensembl 74_37 +1 known in_frame_del c.19_21 p.P8in_frame_del 0.006:0.019:0.002 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 139 0 0 83 44 34.6457 BAHD1 0 genome.wustl.edu 37 15 40750958 40750958 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 40750958 40750958 C - DEL BAHD1 ENST00000416165 human ensembl 74_37 +1 known frame_shift_del c.295 p.S101fs 0.991 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 90 0 0 62 20 24.3902 B2M 0 genome.wustl.edu 37 15 45007689 45007690 + Frame_Shift_Del DEL TA TA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 45007689 45007690 TA - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.136_137 p.Y46fs 1.000:1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 146 0 0 94 59 38.5621 B2M 0 genome.wustl.edu 37 15 45007824 45007825 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 45007824 45007825 - C INS B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_ins c.271_272 p.T93fs 0.816:0.591 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 129 0 0 65 40 38.0952 SLC24A5 0 genome.wustl.edu 37 15 48431210 48431211 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 48431210 48431211 - T INS SLC24A5 ENST00000341459 human ensembl 74_37 +1 known frame_shift_ins c.916_917 p.W308fs 1.000:1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 63 0 0 48 27 36 WDR72 0 genome.wustl.edu 37 15 53908071 53908071 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 53908071 53908071 T - DEL WDR72 ENST00000360509 human ensembl 74_37 -1 known frame_shift_del c.2332 p.M778fs 0.082 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 198 0 0 131 66 33.5025 RFX7 0 genome.wustl.edu 37 15 56386180 56386181 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 56386180 56386181 - T INS RFX7 ENST00000423270 human ensembl 74_37 -1 known frame_shift_ins c.3746_3745 p.I1249fs 1.000:1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 75 0 0 52 26 33.3333 SLTM 0 genome.wustl.edu 37 15 59186129 59186129 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 59186129 59186129 T - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.1539 p.E514fs 0.997 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 52 0 0 58 19 24.6753 GCNT3 0 genome.wustl.edu 37 15 59911278 59911280 + In_Frame_Del DEL AAG AAG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 59911278 59911280 AAG - DEL GCNT3 ENST00000396065 human ensembl 74_37 +1 known in_frame_del c.841_843 p.K283in_frame_del 0.000:0.001:0.044 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 270 0 0 143 68 32.2275 NARG2 0 genome.wustl.edu 37 15 60741266 60741267 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 60741266 60741267 - T INS NARG2 ENST00000261520 human ensembl 74_37 -1 known frame_shift_ins c.1900_1899 p.P633fs 1.000:1.000 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 65 0 0 43 36 45.5696 NOX5 0 genome.wustl.edu 37 15 69331226 69331226 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 69331226 69331226 T - DEL NOX5 ENST00000388866 human ensembl 74_37 +1 known frame_shift_del c.1401 p.H470fs 0.970 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 169 1 0.588235 88 75 46.0123 MYO9A 0 genome.wustl.edu 37 15 72190580 72190580 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 72190580 72190580 A - DEL MYO9A ENST00000424560 human ensembl 74_37 -1 known frame_shift_del c.4264 p.Y1422fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 74 0 0 51 15 22.7273 MESDC2 0 genome.wustl.edu 37 15 81281974 81281976 + In_Frame_Del DEL CTT CTT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 81281974 81281976 CTT - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known in_frame_del c.159_157 p.K53in_frame_del 1.000:1.000:1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 103 0 0 72 34 32.0755 IL16 0 genome.wustl.edu 37 15 81593804 81593805 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 15 81593804 81593805 - A INS IL16 ENST00000302987 human ensembl 74_37 +1 known frame_shift_ins c.3269_3270 p.L1093fs 0.045:0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 98 0 0 68 22 24.4444 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 10867203 10867203 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 61 0 0 41 25 37.8788 CACNA1H 0 genome.wustl.edu 37 16 1258148 1258148 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 1258148 1258148 C - DEL CACNA1H ENST00000348261 human ensembl 74_37 +1 known frame_shift_del c.3290 p.S1099fs 0.028 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 11 0 0 3 4 57.1429 PDXDC1 0 genome.wustl.edu 37 16 15122839 15122840 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 15122839 15122840 - C INS PDXDC1 ENST00000455313 human ensembl 74_37 +1 known frame_shift_ins c.1240_1241 p.L416fs 0.000:0.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors PDXDC1 HGNC ENSG00000179889 34 0 0 33 6 15.3846 BRICD5 0 genome.wustl.edu 37 16 2260064 2260064 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 2260064 2260064 G - DEL BRICD5 ENST00000566018 human ensembl 74_37 -1 putative frame_shift_del c.399 p.C134fs 0.859 NULL NULL - no_errors BRICD5 HGNC ENSG00000182685 12 0 0 9 7 43.75 PALB2 0 genome.wustl.edu 37 16 23647028 23647028 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 23647028 23647028 T - DEL PALB2 ENST00000261584 human ensembl 74_37 -1 known frame_shift_del c.839 p.N280fs 0.001 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 129 0 0 97 49 33.5616 KIAA0556 0 genome.wustl.edu 37 16 27761168 27761168 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 27761168 27761168 G - DEL KIAA0556 ENST00000261588 human ensembl 74_37 +1 known frame_shift_del c.2887 p.G964fs 0.003 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 50 0 0 26 12 31.5789 SPN 0 genome.wustl.edu 37 16 29675364 29675365 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 29675364 29675365 - C INS SPN ENST00000360121 human ensembl 74_37 +1 known frame_shift_ins c.315_316 p.Q106fs 0.000:0.000 NULL NULL - no_errors SPN HGNC ENSG00000197471 88 0 0 71 26 26.8041 MAZ 0 genome.wustl.edu 37 16 29818054 29818054 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 29818054 29818054 C - DEL MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_del c.32 p.F14fs 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 27 0 0 24 8 25 INO80E 0 genome.wustl.edu 37 16 30007665 30007665 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 30007665 30007665 A - DEL INO80E ENST00000563197 human ensembl 74_37 +1 known frame_shift_del c.34 p.K14fs 1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 22 0 0 5 6 54.5455 FAM57B 0 genome.wustl.edu 37 16 30041821 30041821 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 30041821 30041821 C - DEL FAM57B ENST00000380495 human ensembl 74_37 -1 known frame_shift_del c.28 p.V10fs 1.000 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors FAM57B HGNC ENSG00000149926 18 0 0 14 6 30 CORO1A 0 genome.wustl.edu 37 16 30198155 30198155 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 30198155 30198155 G - DEL CORO1A ENST00000219150 human ensembl 74_37 +1 known frame_shift_del c.340 p.G115fs 0.965 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC ENSG00000102879 51 0 0 34 11 24.4444 CLDN6 0 genome.wustl.edu 37 16 3065572 3065572 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 3065572 3065572 G - DEL CLDN6 ENST00000328796 human ensembl 74_37 -1 known frame_shift_del c.451 p.L151fs 0.945 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 38 0 0 19 11 36.6667 SETD1A 0 genome.wustl.edu 37 16 30977317 30977317 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 30977317 30977317 C - DEL SETD1A ENST00000262519 human ensembl 74_37 +1 known frame_shift_del c.2115 p.G708fs 0.729 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 135 0 0 97 27 21.7742 STX4 0 genome.wustl.edu 37 16 31050861 31050861 + Splice_Site DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 31050861 31050861 G - DEL STX4 ENST00000313843 human ensembl 74_37 +1 known splice_site_del c.703-1 e9-1 1.000 - - - no_errors STX4 HGNC ENSG00000103496 119 0 0 93 29 23.7705 ZNF200 0 genome.wustl.edu 37 16 3273976 3273976 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 3273976 3273976 T - DEL ZNF200 ENST00000414144 human ensembl 74_37 -1 known frame_shift_del c.1104 p.K368fs 0.874 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ENSG00000010539 393 0 0 301 114 27.4699 AXIN1 0 genome.wustl.edu 37 16 347982 347983 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 347982 347983 - C INS AXIN1 ENST00000262320 human ensembl 74_37 -1 known frame_shift_ins c.1524_1523 p.A509fs 0.000:0.021 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 21 0 0 13 4 23.5294 VPS35 0 genome.wustl.edu 37 16 46695735 46695735 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 46695735 46695735 T - DEL VPS35 ENST00000299138 human ensembl 74_37 -1 known frame_shift_del c.2106 p.A703fs 0.998 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 119 0 0 134 21 13.5484 ENSG00000261270 0 genome.wustl.edu 37 16 56974223 56974223 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 56974223 56974223 T - DEL ENSG00000261270 ENST00000565861 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors RP11-325K4.3 Clone_based_vega_gene ENSG00000261270 20 0 0 17 5 22.7273 CDH16 0 genome.wustl.edu 37 16 66945906 66945906 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 66945906 66945906 G - DEL CDH16 ENST00000299752 human ensembl 74_37 -1 known frame_shift_del c.1686 p.K563fs 0.250 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 111 0 0 119 8 6.29921 MIR328 0 genome.wustl.edu 37 16 67236285 67236286 + RNA INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 67236285 67236286 - C INS MIR328 ENST00000385213 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR328 HGNC ENSG00000207948 119 0 0 84 35 29.4118 FHOD1 0 genome.wustl.edu 37 16 67267852 67267853 + Frame_Shift_Del DEL GG GG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 67267852 67267853 GG - DEL FHOD1 ENST00000258201 human ensembl 74_37 -1 known frame_shift_del c.1754_1753 p.P585fs 1.000:1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 28 0 0 12 7 36.8421 ENSG00000263126 0 genome.wustl.edu 37 16 67917844 67917844 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 67917844 67917844 C - DEL ENSG00000263126 ENST00000572067 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000263126 64 0 0 43 15 25.8621 ESRP2 0 genome.wustl.edu 37 16 68264452 68264452 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 68264452 68264452 G - DEL ESRP2 ENST00000565858 human ensembl 74_37 -1 known frame_shift_del c.1934 p.P645fs 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 45 0 0 35 19 35.1852 MTSS1L 0 genome.wustl.edu 37 16 70698147 70698147 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 70698147 70698147 G - DEL MTSS1L ENST00000338779 human ensembl 74_37 -1 known frame_shift_del c.1677 p.G560fs 0.001 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 20 0 0 23 5 17.8571 CHST4 0 genome.wustl.edu 37 16 71570593 71570593 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 71570593 71570593 A - DEL CHST4 ENST00000338482 human ensembl 74_37 +1 known frame_shift_del c.13 p.M7fs 0.000 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 112 0 0 92 44 32.3529 MARVELD3 0 genome.wustl.edu 37 16 71668442 71668442 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 71668442 71668442 G - DEL MARVELD3 ENST00000268485 human ensembl 74_37 +1 known frame_shift_del c.942 p.Y317fs 0.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 65 0 0 47 12 20.339 ZFHX3 0 genome.wustl.edu 37 16 72831391 72831392 + In_Frame_Ins INS - - TGC TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 16 72831391 72831392 - TGC INS ZFHX3 ENST00000268489 human ensembl 74_37 -1 known in_frame_ins c.5190_5189 p.1734in_frame_insQ 0.993:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 31 0 0 22 14 38.8889 MYOCD 0 genome.wustl.edu 37 17 12656041 12656041 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 12656041 12656041 C - DEL MYOCD ENST00000425538 human ensembl 74_37 +1 known frame_shift_del c.1436 p.S481fs 0.879 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 83 0 0 63 22 25.8824 CRK 0 genome.wustl.edu 37 17 1326755 1326757 + RNA DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 1326755 1326757 AAA - DEL CRK ENST00000572145 human ensembl 74_37 -1 known rna NULL NULL 0.352:0.023:0.010 - - - no_errors CRK HGNC ENSG00000167193 49 0 0 14 32 69.5652 MPRIP 0 genome.wustl.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 17046886 17046886 C - DEL MPRIP ENST00000395811 human ensembl 74_37 +1 known frame_shift_del c.1052 p.P353fs 0.999 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 44 0 0 24 11 31.4286 NT5M 0 genome.wustl.edu 37 17 17250189 17250190 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 17250189 17250190 - C INS NT5M ENST00000389022 human ensembl 74_37 +1 known frame_shift_ins c.615_616 p.R207fs 0.998:1.000 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 98 0 0 49 12 19.6721 SLC47A1 0 genome.wustl.edu 37 17 19459098 19459098 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 19459098 19459098 C - DEL SLC47A1 ENST00000571335 human ensembl 74_37 +1 novel frame_shift_del c.144 p.T51fs 0.000 NULL pfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 46 0 0 25 17 40.4762 ALDH3A2 0 genome.wustl.edu 37 17 19566732 19566732 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 19566732 19566732 A - DEL ALDH3A2 ENST00000339618 human ensembl 74_37 +1 known frame_shift_del c.1027 p.N344fs 0.980 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 81 0 0 58 35 37.6344 PHF12 0 genome.wustl.edu 37 17 27233246 27233247 + Frame_Shift_Del DEL GA GA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27233246 27233247 GA - DEL PHF12 ENST00000332830 human ensembl 74_37 -1 known frame_shift_del c.2970_2969 p.L990fs 1.000:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 66 0 0 38 15 28.3019 SEZ6 0 genome.wustl.edu 37 17 27284080 27284080 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27284080 27284080 G - DEL SEZ6 ENST00000317338 human ensembl 74_37 -1 known frame_shift_del c.2675 p.P892fs 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 20 0 0 17 7 29.1667 MYO18A 0 genome.wustl.edu 37 17 27493332 27493332 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27493332 27493332 G - DEL MYO18A ENST00000354329 human ensembl 74_37 -1 known frame_shift_del c.627 p.V210fs 0.000 superfamily_PDZ pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 108 0 0 64 32 33.3333 SSH2 0 genome.wustl.edu 37 17 27959374 27959375 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 27959374 27959375 - G INS SSH2 ENST00000269033 human ensembl 74_37 -1 known frame_shift_ins c.2757_2756 p.E920fs 0.164:0.003 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 320 0 0 210 90 30 ZNF207 0 genome.wustl.edu 37 17 30687623 30687623 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 30687623 30687623 A - DEL ZNF207 ENST00000394670 human ensembl 74_37 +1 known frame_shift_del c.314 p.K107fs 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 44 0 0 26 11 29.7297 OR1A2 0 genome.wustl.edu 37 17 3101552 3101552 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 3101552 3101552 T - DEL OR1A2 ENST00000381951 human ensembl 74_37 +1 known frame_shift_del c.740 p.L249fs 0.029 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 91 0 0 84 48 36.3636 LHX1 0 genome.wustl.edu 37 17 35300395 35300395 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 35300395 35300395 C - DEL LHX1 ENST00000254457 human ensembl 74_37 +1 known frame_shift_del c.1188 p.E399fs 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 28 0 0 23 9 28.125 HNF1B 0 genome.wustl.edu 37 17 36059174 36059174 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 36059174 36059174 G - DEL HNF1B ENST00000225893 human ensembl 74_37 -1 known frame_shift_del c.1561 p.Q521fs 1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 85 0 0 36 18 33.3333 ZZEF1 0 genome.wustl.edu 37 17 3947659 3947660 + Frame_Shift_Del DEL CT CT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 3947659 3947660 CT - DEL ZZEF1 ENST00000381638 human ensembl 74_37 -1 known frame_shift_del c.6025_6024 p.R2008fs 0.001:0.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 44 0 0 25 5 16.6667 KCNH4 0 genome.wustl.edu 37 17 40328259 40328259 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 40328259 40328259 C - DEL KCNH4 ENST00000264661 human ensembl 74_37 -1 known frame_shift_del c.642 p.S215fs 0.999 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 216 0 0 138 56 28.866 WNK4 0 genome.wustl.edu 37 17 40939869 40939870 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 40939869 40939870 - G INS WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_ins c.1815_1816 p.V607fs 0.144:0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 98 0 0 44 35 44.3038 AOC3 0 genome.wustl.edu 37 17 41004674 41004674 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 41004674 41004674 C - DEL AOC3 ENST00000308423 human ensembl 74_37 +1 known frame_shift_del c.1314 p.L440fs 0.019 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 85 0 0 57 22 27.8481 PELP1 0 genome.wustl.edu 37 17 4575894 4575894 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 4575894 4575894 G - DEL PELP1 ENST00000301396 human ensembl 74_37 -1 known frame_shift_del c.2824 p.L942fs 0.989 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 27 0 0 27 19 41.3043 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 4875738 4875738 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.2666 p.P889fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 29 0 0 17 7 29.1667 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 152 1 0.653595 75 96 56.1404 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 75 0 0 44 20 31.25 TBX4 0 genome.wustl.edu 37 17 59560345 59560345 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 59560345 59560345 C - DEL TBX4 ENST00000393853 human ensembl 74_37 +1 known frame_shift_del c.1109 p.P372fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 25 0 0 27 14 34.1463 ENSG00000263887 0 genome.wustl.edu 37 17 60362751 60362752 + RNA INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 60362751 60362752 - T INS ENSG00000263887 ENST00000602493 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors RP11-51L5.5 Clone_based_vega_gene ENSG00000263887 157 0 0 143 42 22.7027 LRRC37A3 0 genome.wustl.edu 37 17 62856650 62856651 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 62856650 62856651 - T INS LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known frame_shift_ins c.3614_3613 p.R1205fs 0.016:0.008 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 179 0 0 112 55 32.9341 AXIN2 0 genome.wustl.edu 37 17 63532585 63532585 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 63532585 63532585 C - DEL AXIN2 ENST00000307078 human ensembl 74_37 -1 known frame_shift_del c.1994 p.G665fs 0.436 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 67 0 0 42 26 38.2353 BPTF 0 genome.wustl.edu 37 17 65899951 65899951 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 65899951 65899951 A - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known frame_shift_del c.2968 p.E993fs 0.993 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 25 0 0 16 13 44.8276 C17orf58 0 genome.wustl.edu 37 17 65989061 65989061 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 65989061 65989061 A - DEL C17orf58 ENST00000334461 human ensembl 74_37 -1 known frame_shift_del c.202 p.W68fs 0.000 NULL NULL - no_errors C17orf58 HGNC ENSG00000186665 85 0 0 54 25 31.6456 C17orf80 0 genome.wustl.edu 37 17 71233115 71233115 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 71233115 71233115 G - DEL C17orf80 ENST00000359042 human ensembl 74_37 +1 known frame_shift_del c.1494 p.E500fs 0.425 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 57 0 0 33 18 35.2941 PHF23 0 genome.wustl.edu 37 17 7139520 7139520 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 7139520 7139520 G - DEL PHF23 ENST00000320316 human ensembl 74_37 -1 known frame_shift_del c.726 p.S243fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 163 0 0 108 47 30.3226 YBX2 0 genome.wustl.edu 37 17 7193758 7193758 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 7193758 7193758 G - DEL YBX2 ENST00000007699 human ensembl 74_37 -1 known frame_shift_del c.556 p.R186fs 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 101 0 0 68 32 32 GPS2 0 genome.wustl.edu 37 17 7217257 7217258 + Frame_Shift_Del DEL CT CT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 7217257 7217258 CT - DEL GPS2 ENST00000380728 human ensembl 74_37 -1 known frame_shift_del c.448_447 p.R149fs 1.000:1.000 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 156 0 0 121 52 30.0578 NEURL4 0 genome.wustl.edu 37 17 7231005 7231005 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 7231005 7231005 C - DEL NEURL4 ENST00000399464 human ensembl 74_37 -1 known frame_shift_del c.481 p.V161fs 1.000 superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 185 0 0 124 13 9.48905 GALR2 0 genome.wustl.edu 37 17 74072797 74072797 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 74072797 74072797 G - DEL GALR2 ENST00000329003 human ensembl 74_37 +1 known frame_shift_del c.449 p.L152fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 51 0 0 30 14 31.8182 POLR2A 0 genome.wustl.edu 37 17 7417102 7417102 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 7417102 7417102 C - DEL POLR2A ENST00000322644 human ensembl 74_37 +1 known frame_shift_del c.5519 p.P1841fs 1.000 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 181 0 0 169 18 9.62567 PRPSAP1 0 genome.wustl.edu 37 17 74328436 74328437 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 74328436 74328437 - C INS PRPSAP1 ENST00000446526 human ensembl 74_37 -1 known frame_shift_ins c.371_370 p.V124fs 1.000:1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 114 0 0 87 45 34.0909 TNRC6C 0 genome.wustl.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 76046980 76046980 A - DEL TNRC6C ENST00000335749 human ensembl 74_37 +1 known frame_shift_del c.1837 p.N615fs 0.960 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 109 0 0 35 56 61.5385 USP36 0 genome.wustl.edu 37 17 76799940 76799942 + In_Frame_Del DEL GGA GGA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 76799940 76799942 GGA - DEL USP36 ENST00000312010 human ensembl 74_37 -1 known in_frame_del c.2337_2335 p.S779in_frame_del 0.000:0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 103 0 0 76 31 28.972 TBC1D16 0 genome.wustl.edu 37 17 77922699 77922699 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 77922699 77922699 C - DEL TBC1D16 ENST00000310924 human ensembl 74_37 -1 known frame_shift_del c.1513 p.E505fs 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 113 0 0 89 42 32.0611 RNF213 0 genome.wustl.edu 37 17 78314019 78314019 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 78314019 78314019 C - DEL RNF213 ENST00000582970 human ensembl 74_37 +1 known frame_shift_del c.5852 p.Q1953fs 0.052 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 61 0 0 45 14 23.7288 BAHCC1 0 genome.wustl.edu 37 17 79411577 79411578 + Frame_Shift_Ins INS - - GG TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 79411577 79411578 - GG INS BAHCC1 ENST00000307745 human ensembl 74_37 +1 known frame_shift_ins c.2495_2496 p.H835fs 1.000:1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 13 0 0 7 3 30 TSPAN10 0 genome.wustl.edu 37 17 79612444 79612445 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 79612444 79612445 - T INS TSPAN10 ENST00000328585 human ensembl 74_37 +1 known frame_shift_ins c.463_464 p.G155fs 0.221:0.216 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 22 0 0 11 4 26.6667 VAMP2 0 genome.wustl.edu 37 17 8065661 8065661 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 17 8065661 8065661 G - DEL VAMP2 ENST00000316509 human ensembl 74_37 -1 known frame_shift_del c.29 p.P10fs 0.998 pirsf_Synaptobrevin_met/fun pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP2 HGNC ENSG00000220205 38 0 0 34 14 29.1667 SPIRE1 0 genome.wustl.edu 37 18 12453139 12453140 + Splice_Site INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 12453139 12453140 - A INS SPIRE1 ENST00000409402 human ensembl 74_37 -1 known splice_site_ins c.1777-3_1777-2 e14-2 1.000:0.843 - - - no_errors SPIRE1 HGNC ENSG00000134278 45 0 0 16 10 38.4615 FAM210A 0 genome.wustl.edu 37 18 13681751 13681751 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 13681751 13681751 T - DEL FAM210A ENST00000322247 human ensembl 74_37 -1 known frame_shift_del c.326 p.K109fs 0.991 NULL pfam_DUF1279 - no_errors FAM210A HGNC ENSG00000177150 170 1 0.584795 106 64 37.6471 ANKRD20A5P 0 genome.wustl.edu 37 18 14225639 14225639 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 14225639 14225639 A - DEL ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.184 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 16 0 0 16 8 33.3333 RBBP8 0 genome.wustl.edu 37 18 20572853 20572853 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 20572853 20572853 A - DEL RBBP8 ENST00000327155 human ensembl 74_37 +1 known frame_shift_del c.1063 p.K357fs 0.002 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 96 0 0 57 40 41.2371 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 35 0 0 31 14 31.1111 WBP11P1 0 genome.wustl.edu 37 18 30092428 30092428 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 30092428 30092428 C - DEL WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WBP11P1 HGNC ENSG00000260389 96 0 0 48 27 36 MYOM1 0 genome.wustl.edu 37 18 3083990 3083990 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 3083990 3083990 T - DEL MYOM1 ENST00000356443 human ensembl 74_37 -1 known frame_shift_del c.4375 p.I1459fs 0.998 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 14 0 0 12 4 25 CCDC178 0 genome.wustl.edu 37 18 30926269 30926270 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 30926269 30926270 - A INS CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_ins c.564_563 p.L188fs 0.196:0.868 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 73 0 0 46 38 45.2381 ZBTB7C 0 genome.wustl.edu 37 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 45567085 45567085 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.394 p.D132fs 0.050 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 38 0 0 17 8 32 ENSG00000267040 0 genome.wustl.edu 37 18 55335787 55335789 + RNA DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 55335787 55335789 AAA - DEL ENSG00000267040 ENST00000592201 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors RP11-35G9.3 Clone_based_vega_gene ENSG00000267040 30 0 0 28 14 33.3333 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 119 0 0 69 31 31 CDH7 0 genome.wustl.edu 37 18 63526952 63526953 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 63526952 63526953 - A INS CDH7 ENST00000323011 human ensembl 74_37 +1 known frame_shift_ins c.1503_1504 p.I502fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 38 0 0 12 12 50 RTTN 0 genome.wustl.edu 37 18 67869206 67869207 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 18 67869206 67869207 - T INS RTTN ENST00000255674 human ensembl 74_37 -1 known frame_shift_ins c.411_410 p.N137fs 0.098:0.103 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 34 0 0 40 12 23.0769 SLC44A2 0 genome.wustl.edu 37 19 10753993 10753994 + Frame_Shift_Ins INS - - TAAG TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 10753993 10753994 - TAAG INS SLC44A2 ENST00000335757 human ensembl 74_37 +1 known frame_shift_ins c.2053_2054 p.P685fs 1.000:1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 33 0 0 14 25 64.1026 ELAVL3 0 genome.wustl.edu 37 19 11577605 11577605 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 11577605 11577605 C - DEL ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_del c.47 p.G16fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 16 0 0 11 11 50 ZNF799 0 genome.wustl.edu 37 19 12502590 12502590 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 12502590 12502590 A - DEL ZNF799 ENST00000430385 human ensembl 74_37 -1 known frame_shift_del c.622 p.W208fs 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 127 1 0.78125 55 64 53.7815 NACC1 0 genome.wustl.edu 37 19 13248179 13248181 + In_Frame_Del DEL CTT CTT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 13248179 13248181 CTT - DEL NACC1 ENST00000292431 human ensembl 74_37 +1 known in_frame_del c.1215_1217 p.F407in_frame_del 1.000:1.000:1.000 pfam_BEN_domain pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 107 0 0 36 38 51.3514 CACNA1A 0 genome.wustl.edu 37 19 13395983 13395983 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 13395983 13395983 T - DEL CACNA1A ENST00000360228 human ensembl 74_37 -1 known frame_shift_del c.3591 p.E1198fs 1.000 prints_VDCC_P/Q_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 64 0 0 28 50 64.1026 PKN1 0 genome.wustl.edu 37 19 14562741 14562741 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 14562741 14562741 C - DEL PKN1 ENST00000342216 human ensembl 74_37 +1 known frame_shift_del c.1089 p.F366fs 0.060 superfamily_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 38 0 0 31 6 16.2162 CPAMD8 0 genome.wustl.edu 37 19 17100545 17100545 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 17100545 17100545 C - DEL CPAMD8 ENST00000443236 human ensembl 74_37 -1 known frame_shift_del c.1444 p.A482fs 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 53 0 0 33 14 29.7872 CRTC1 0 genome.wustl.edu 37 19 18879554 18879554 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 18879554 18879554 C - DEL CRTC1 ENST00000338797 human ensembl 74_37 +1 known frame_shift_del c.1319 p.P442fs 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 21 0 0 17 3 15 NR2C2AP 0 genome.wustl.edu 37 19 19312842 19312842 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 19312842 19312842 G - DEL NR2C2AP ENST00000331552 human ensembl 74_37 -1 known frame_shift_del c.312 p.I105fs 0.037 superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors NR2C2AP HGNC ENSG00000184162 121 0 0 87 23 20.9091 TLE2 0 genome.wustl.edu 37 19 3028803 3028804 + Splice_Site INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 3028803 3028804 - G INS TLE2 ENST00000262953 human ensembl 74_37 -1 known splice_site_ins c.25-3_25-2 e2-2 1.000:0.958 - - - no_errors TLE2 HGNC ENSG00000065717 143 0 0 77 33 30 KIAA0355 0 genome.wustl.edu 37 19 34833075 34833075 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 34833075 34833075 C - DEL KIAA0355 ENST00000299505 human ensembl 74_37 +1 known frame_shift_del c.2236 p.P747fs 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 281 0 0 184 59 24.2798 ATP4A 0 genome.wustl.edu 37 19 36050958 36050958 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 36050958 36050958 C - DEL ATP4A ENST00000262623 human ensembl 74_37 -1 known frame_shift_del c.805 p.V269fs 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 80 0 0 48 7 12.7273 SIPA1L3 0 genome.wustl.edu 37 19 38609984 38609985 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 38609984 38609985 - C INS SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_ins c.2330_2331 p.I780fs 1.000:0.898 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 160 1 0.621118 102 31 23.3083 POU2F2 0 genome.wustl.edu 37 19 42596302 42596302 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 42596302 42596302 G - DEL POU2F2 ENST00000342301 human ensembl 74_37 -1 known frame_shift_del c.1319 p.P440fs 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 28 0 0 19 5 20.8333 CIC 0 genome.wustl.edu 37 19 42794441 42794441 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 42794441 42794441 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.1521 p.P509fs 0.126 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 134 0 0 61 41 40.1961 ZNF180 0 genome.wustl.edu 37 19 45004419 45004419 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 45004419 45004419 C - DEL ZNF180 ENST00000585514 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF180 HGNC ENSG00000167384 21 0 0 6 3 33.3333 PPP1R13L 0 genome.wustl.edu 37 19 45900258 45900259 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 45900258 45900259 - G INS PPP1R13L ENST00000360957 human ensembl 74_37 -1 known frame_shift_ins c.257_256 p.R86fs 0.999:0.997 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 17 0 0 11 5 31.25 ZNF114 0 genome.wustl.edu 37 19 48789818 48789818 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 48789818 48789818 T - DEL ZNF114 ENST00000315849 human ensembl 74_37 +1 known frame_shift_del c.937 p.Y315fs 0.070 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 60 0 0 49 33 40.2439 CYTH2 0 genome.wustl.edu 37 19 48981555 48981555 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 48981555 48981555 C - DEL CYTH2 ENST00000427476 human ensembl 74_37 +1 known frame_shift_del c.912 p.L306fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH2 HGNC ENSG00000105443 87 0 0 51 39 43.3333 FAM83E 0 genome.wustl.edu 37 19 49104392 49104392 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49104392 49104392 G - DEL FAM83E ENST00000263266 human ensembl 74_37 -1 known frame_shift_del c.1411 p.R471fs 0.000 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 79 0 0 48 14 22.5806 SPHK2 0 genome.wustl.edu 37 19 49131530 49131530 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49131530 49131530 G - DEL SPHK2 ENST00000443164 human ensembl 74_37 +1 known frame_shift_del c.1054 p.G353fs 0.998 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 88 0 0 43 20 31.746 PPP1R15A 0 genome.wustl.edu 37 19 49377242 49377242 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49377242 49377242 G - DEL PPP1R15A ENST00000200453 human ensembl 74_37 +1 known frame_shift_del c.752 p.R251fs 0.001 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 52 0 0 50 28 35.8974 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 92 0 0 21 48 69.5652 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 317 1 0.314465 202 65 24.3446 SLC17A7 0 genome.wustl.edu 37 19 49933806 49933806 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 49933806 49933806 G - DEL SLC17A7 ENST00000221485 human ensembl 74_37 -1 known frame_shift_del c.1653 p.R552fs 0.428 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 39 0 0 21 9 30 SIGLEC16 0 genome.wustl.edu 37 19 50475183 50475183 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 50475183 50475183 C - DEL SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.279 - - - no_errors SIGLEC16 HGNC ENSG00000161643 40 0 0 23 17 42.5 SHANK1 0 genome.wustl.edu 37 19 51171804 51171804 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 51171804 51171804 G - DEL SHANK1 ENST00000391814 human ensembl 74_37 -1 known frame_shift_del c.3437 p.P1146fs 0.816 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 23 0 0 28 6 17.6471 LILRB1 0 genome.wustl.edu 37 19 55148385 55148385 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 55148385 55148385 C - DEL LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LILRB1 HGNC ENSG00000104972 24 0 0 25 5 16.6667 TMEM86B 0 genome.wustl.edu 37 19 55739642 55739642 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 55739642 55739642 C - DEL TMEM86B ENST00000327042 human ensembl 74_37 -1 known frame_shift_del c.215 p.G72fs 0.017 pfam_YhhN pfam_YhhN - no_errors TMEM86B HGNC ENSG00000180089 18 0 0 13 8 38.0952 SAFB2 0 genome.wustl.edu 37 19 5587282 5587282 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 5587282 5587282 G - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.2834 p.P945fs 0.100 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 22 0 0 11 11 50 SAFB2 0 genome.wustl.edu 37 19 5590343 5590343 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 5590343 5590343 C - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.2471 p.G824fs 0.985 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 19 0 0 11 11 50 ZNF524 0 genome.wustl.edu 37 19 56113646 56113646 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 56113646 56113646 C - DEL ZNF524 ENST00000301073 human ensembl 74_37 +1 known frame_shift_del c.168 p.K59fs 0.040 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF524 HGNC ENSG00000171443 10 0 0 3 5 62.5 U2AF2 0 genome.wustl.edu 37 19 56173905 56173906 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 56173905 56173906 - G INS U2AF2 ENST00000308924 human ensembl 74_37 +1 known frame_shift_ins c.524_525 p.L178fs 0.991:0.923 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 78 0 0 63 22 25.8824 NLRP9 0 genome.wustl.edu 37 19 56249722 56249722 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 56249722 56249722 A - DEL NLRP9 ENST00000332836 human ensembl 74_37 -1 known frame_shift_del c.19 p.S7fs 0.009 superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 126 0 0 94 24 20.339 HSD11B1L 0 genome.wustl.edu 37 19 5687962 5687962 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 19 5687962 5687962 G - DEL HSD11B1L ENST00000423665 human ensembl 74_37 +1 known frame_shift_del c.704 p.V237fs 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1L HGNC ENSG00000167733 9 0 0 3 3 50 NMS 0 genome.wustl.edu 37 2 101090003 101090004 + Splice_Site INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 101090003 101090004 - A INS NMS ENST00000376865 human ensembl 74_37 +1 known splice_site_ins c.183+2_183+1 e3+2 0.059:0.033 - - - no_errors NMS HGNC ENSG00000204640 29 0 0 25 7 21.875 SLC20A1 0 genome.wustl.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 113416607 113416608 AG - DEL SLC20A1 ENST00000272542 human ensembl 74_37 +1 known frame_shift_del c.984_985 p.R332fs 0.023:0.531 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 81 0 0 53 27 33.75 RABL2A 0 genome.wustl.edu 37 2 114398869 114398869 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 114398869 114398869 C - DEL RABL2A ENST00000477218 human ensembl 74_37 +1 known rna NULL NULL 0.058 - - - no_errors RABL2A HGNC ENSG00000144134 56 0 0 25 29 53.7037 SLC35F5 0 genome.wustl.edu 37 2 114500277 114500278 + Frame_Shift_Del DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 114500277 114500278 AA - DEL SLC35F5 ENST00000245680 human ensembl 74_37 -1 known frame_shift_del c.742_741 p.F247fs 1.000:1.000 pfam_DMT pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 85 0 0 85 44 34.1085 PTPN4 0 genome.wustl.edu 37 2 120672766 120672767 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 120672766 120672767 - A INS PTPN4 ENST00000263708 human ensembl 74_37 +1 known frame_shift_ins c.776_777 p.I261fs 1.000:1.000 pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 62 0 0 41 15 26.7857 TSN 0 genome.wustl.edu 37 2 122522936 122522936 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 122522936 122522936 A - DEL TSN ENST00000389682 human ensembl 74_37 +1 known frame_shift_del c.680 p.K228fs 0.998 NULL pfam_Translin,superfamily_Translin - no_errors TSN HGNC ENSG00000211460 70 0 0 48 20 29.4118 NCKAP5 0 genome.wustl.edu 37 2 133751755 133751755 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 133751755 133751755 T - DEL NCKAP5 ENST00000317721 human ensembl 74_37 -1 known frame_shift_del c.399 p.E134fs 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 12 0 0 5 4 44.4444 FAM84A 0 genome.wustl.edu 37 2 14774272 14774273 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 14774272 14774273 - C INS FAM84A ENST00000295092 human ensembl 74_37 +1 known frame_shift_ins c.169_170 p.G61fs 0.981:0.532 NULL pfam_LRAT-like_dom - no_errors FAM84A HGNC ENSG00000162981 47 0 0 27 14 34.1463 ACVR2A 0 genome.wustl.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 148657041 148657041 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.278 p.D96fs 1.000 pfam_Activin_rcpt,prints_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 93 0 0 68 31 31.3131 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 105 0 0 72 36 33.3333 EPC2 0 genome.wustl.edu 37 2 149447829 149447829 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 149447829 149447829 A - DEL EPC2 ENST00000258484 human ensembl 74_37 +1 known frame_shift_del c.200 p.E70fs 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 55 0 0 46 30 39.4737 RIF1 0 genome.wustl.edu 37 2 152324641 152324643 + In_Frame_Del DEL CTC CTC - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 152324641 152324643 CTC - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known in_frame_del c.6728_6730 p.P2244in_frame_del 0.984:0.977:0.994 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 54 0 0 43 13 23.2143 RIF1 0 genome.wustl.edu 37 2 152326345 152326345 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 152326345 152326345 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.7062 p.K2356fs 0.991 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 79 0 0 91 7 7.14286 MYCN 0 genome.wustl.edu 37 2 16082314 16082314 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 16082314 16082314 C - DEL MYCN ENST00000281043 human ensembl 74_37 +1 known frame_shift_del c.128 p.P45fs 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 46 0 0 54 9 14.2857 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 43 0 0 30 18 37.5 NOSTRIN 0 genome.wustl.edu 37 2 169699563 169699563 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 169699563 169699563 A - DEL NOSTRIN ENST00000444448 human ensembl 74_37 +1 known frame_shift_del c.566 p.N191fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 39 0 0 27 16 37.2093 FKBP7 0 genome.wustl.edu 37 2 179330469 179330472 + RNA DEL AAAA AAAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 179330469 179330472 AAAA - DEL FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 25 0 0 14 12 46.1538 TTN-AS1 0 genome.wustl.edu 37 2 179392052 179392052 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 179392052 179392052 A - DEL TTN-AS1 ENST00000587576 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 16 0 0 18 6 25 TTN 0 genome.wustl.edu 37 2 179518593 179518593 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 179518593 179518593 T - DEL TTN ENST00000589042 human ensembl 74_37 -1 putative frame_shift_del c.38496 p.E12833fs 0.469 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 124 0 0 92 14 13.2075 FSIP2 0 genome.wustl.edu 37 2 186678578 186678578 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 186678578 186678578 T - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_del c.20401 p.L6802fs 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 81 0 0 69 36 34.2857 SGOL2 0 genome.wustl.edu 37 2 201436992 201436992 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 201436992 201436992 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1923 p.G644fs 0.002 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 134 1 0.740741 95 7 6.86275 INO80D 0 genome.wustl.edu 37 2 206869880 206869883 + Frame_Shift_Del DEL AAGT AAGT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 206869880 206869883 AAGT - DEL INO80D ENST00000403263 human ensembl 74_37 -1 known frame_shift_del c.2296_2293 p.T765fs 1.000:1.000:1.000:1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 69 0 0 51 19 27.1429 ADAM23 0 genome.wustl.edu 37 2 207460861 207460861 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 207460861 207460861 C - DEL ADAM23 ENST00000264377 human ensembl 74_37 +1 known frame_shift_del c.2334 p.K781fs 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 48 0 0 40 6 13.0435 APOB 0 genome.wustl.edu 37 2 21247750 21247751 + Splice_Site INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 21247750 21247751 - A INS APOB ENST00000399256 human ensembl 74_37 -1 putative splice_site_ins c.2405-3_2405-2 e17-2 0.000:0.002 - - - no_errors APOB HGNC ENSG00000084674 76 0 0 45 19 29.6875 BARD1 0 genome.wustl.edu 37 2 215645975 215645975 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 215645975 215645975 T - DEL BARD1 ENST00000260947 human ensembl 74_37 -1 known frame_shift_del c.623 p.K208fs 0.996 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 58 0 0 41 27 39.7059 ARPC2 0 genome.wustl.edu 37 2 219110150 219110152 + In_Frame_Del DEL AAG AAG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 219110150 219110152 AAG - DEL ARPC2 ENST00000295685 human ensembl 74_37 +1 known in_frame_del c.557_559 p.E187in_frame_del 1.000:1.000:1.000 pfam_P34-arc pfam_P34-arc - no_errors ARPC2 HGNC ENSG00000163466 151 0 0 86 52 37.6812 ZNF142 0 genome.wustl.edu 37 2 219508052 219508052 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 219508052 219508052 G - DEL ZNF142 ENST00000411696 human ensembl 74_37 -1 known frame_shift_del c.3187 p.Q1063fs 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 64 0 0 37 15 28.8462 TMEM198 0 genome.wustl.edu 37 2 220412523 220412523 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 220412523 220412523 G - DEL TMEM198 ENST00000344458 human ensembl 74_37 +1 known frame_shift_del c.462 p.G156fs 1.000 NULL NULL - no_errors TMEM198 HGNC ENSG00000188760 56 0 0 30 10 25 SLC4A3 0 genome.wustl.edu 37 2 220494118 220494118 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 220494118 220494118 A - DEL SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_del c.470 p.H157fs 0.001 prints_Anion_exchange_3 pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 23 0 0 11 7 38.8889 IRS1 0 genome.wustl.edu 37 2 227660270 227660270 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 227660270 227660270 C - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_del c.3185 p.G1062fs 0.033 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 73 0 0 37 26 41.2698 ASXL2 0 genome.wustl.edu 37 2 25982513 25982513 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 25982513 25982513 T - DEL ASXL2 ENST00000435504 human ensembl 74_37 -1 known frame_shift_del c.777 p.R259fs 0.995 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 81 0 0 57 38 40 MAPRE3 0 genome.wustl.edu 37 2 27248517 27248517 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 27248517 27248517 C - DEL MAPRE3 ENST00000233121 human ensembl 74_37 +1 known frame_shift_del c.536 p.C182fs 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 105 0 0 43 33 43.4211 EMILIN1 0 genome.wustl.edu 37 2 27302078 27302079 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 27302078 27302079 - C INS EMILIN1 ENST00000380320 human ensembl 74_37 +1 known frame_shift_ins c.145_146 p.R51fs 0.126:0.118 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 32 0 0 23 9 28.125 FNDC4 0 genome.wustl.edu 37 2 27717517 27717517 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 27717517 27717517 G - DEL FNDC4 ENST00000264703 human ensembl 74_37 -1 known frame_shift_del c.30 p.S11fs 0.915 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC4 HGNC ENSG00000115226 12 0 0 10 5 33.3333 SIX3 0 genome.wustl.edu 37 2 45169458 45169458 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 45169458 45169458 C - DEL SIX3 ENST00000260653 human ensembl 74_37 +1 known frame_shift_del c.215 p.P74fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 30 0 0 14 7 33.3333 MSH6 0 genome.wustl.edu 37 2 48030639 48030640 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 48030639 48030640 - C INS MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_ins c.3253_3254 p.F1088fs 0.001:0.003 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 62 0 0 51 7 12.069 FBXO11 0 genome.wustl.edu 37 2 48059584 48059585 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 48059584 48059585 - G INS FBXO11 ENST00000403359 human ensembl 74_37 -1 known frame_shift_ins c.1302_1301 p.G435fs 1.000:1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 35 0 0 26 25 49.0196 BCL11A 0 genome.wustl.edu 37 2 60688969 60688969 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 60688969 60688969 G - DEL BCL11A ENST00000335712 human ensembl 74_37 -1 known frame_shift_del c.1078 p.L360fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 84 0 0 63 29 31.5217 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 52 0 0 47 23 32.8571 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 107 0 0 62 24 27.907 TPRKB 0 genome.wustl.edu 37 2 73961623 73961623 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 73961623 73961623 T - DEL TPRKB ENST00000272424 human ensembl 74_37 -1 known frame_shift_del c.74 p.N25fs 1.000 pfam_CGI121/TPRKB pfam_CGI121/TPRKB - no_errors TPRKB HGNC ENSG00000144034 110 0 0 86 26 23.2143 WBP1 0 genome.wustl.edu 37 2 74687410 74687410 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 74687410 74687410 C - DEL WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_del c.412 p.P140fs 0.993 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 169 1 0.588235 131 45 25.5682 DOK1 0 genome.wustl.edu 37 2 74781910 74781910 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 74781910 74781910 T - DEL DOK1 ENST00000233668 human ensembl 74_37 +1 known frame_shift_del c.29 p.L12fs 0.996 smart_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK1 HGNC ENSG00000115325 43 0 0 27 16 37.2093 CTNNA2 0 genome.wustl.edu 37 2 80646692 80646693 + Frame_Shift_Del DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 80646692 80646693 AA - DEL CTNNA2 ENST00000361291 human ensembl 74_37 +1 known frame_shift_del c.1358_1359 p.Q453fs 1.000:0.997 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 65 0 0 53 22 29.3333 IMMT 0 genome.wustl.edu 37 2 86400804 86400804 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 86400804 86400804 T - DEL IMMT ENST00000410111 human ensembl 74_37 -1 known frame_shift_del c.390 p.K130fs 0.530 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 29 0 0 17 6 26.087 ANKRD20A8P 0 genome.wustl.edu 37 2 95483039 95483039 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 95483039 95483039 T - DEL ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.232 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 59 0 0 33 7 17.5 ADRA2B 0 genome.wustl.edu 37 2 96781111 96781111 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 96781111 96781111 C - DEL ADRA2B ENST00000409345 human ensembl 74_37 -1 known frame_shift_del c.778 p.E260fs 0.023 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 48 0 0 22 15 40.5405 TAF1B 0 genome.wustl.edu 37 2 9989571 9989573 + In_Frame_Del DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 2 9989571 9989573 AAA - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known in_frame_del c.187_189 p.K65in_frame_del 0.991:0.950:0.834 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 12 0 0 18 4 18.1818 SIRPB1 0 genome.wustl.edu 37 20 1559235 1559235 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 1559235 1559235 G - DEL SIRPB1 ENST00000381605 human ensembl 74_37 -1 known frame_shift_del c.182 p.P61fs 0.010 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 79 0 0 25 29 53.7037 DSTN 0 genome.wustl.edu 37 20 17581420 17581420 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 17581420 17581420 T - DEL DSTN ENST00000246069 human ensembl 74_37 +1 known frame_shift_del c.41 p.Y16fs 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 44 0 0 40 21 34.4262 DSTN 0 genome.wustl.edu 37 20 17581679 17581680 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 17581679 17581680 - T INS DSTN ENST00000246069 human ensembl 74_37 +1 known frame_shift_ins c.300_301 p.L102fs 1.000:1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 65 0 0 74 24 24.4898 DSTN 0 genome.wustl.edu 37 20 17581680 17581680 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 17581680 17581680 T - DEL DSTN ENST00000246069 human ensembl 74_37 +1 known frame_shift_del c.301 p.L103fs 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 65 0 0 70 28 28.5714 DZANK1 0 genome.wustl.edu 37 20 18414186 18414187 + RNA DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 18414186 18414187 AA - DEL DZANK1 ENST00000460891 human ensembl 74_37 -1 known rna NULL NULL 0.014:0.025 - - - no_errors DZANK1 HGNC ENSG00000089091 8 0 0 4 4 50 CD93 0 genome.wustl.edu 37 20 23066469 23066469 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 23066469 23066469 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.361 p.E121fs 0.689 pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 9 0 0 7 4 36.3636 GZF1 0 genome.wustl.edu 37 20 23346169 23346171 + In_Frame_Del DEL GAA GAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 23346169 23346171 GAA - DEL GZF1 ENST00000338121 human ensembl 74_37 +1 known in_frame_del c.1149_1151 p.K385in_frame_del 0.058:0.997:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 148 0 0 93 40 30.0752 TGM6 0 genome.wustl.edu 37 20 2384126 2384126 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 2384126 2384126 C - DEL TGM6 ENST00000202625 human ensembl 74_37 +1 known frame_shift_del c.1073 p.Q360fs 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 87 0 0 66 26 28.2609 ENTPD6 0 genome.wustl.edu 37 20 25187894 25187894 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 25187894 25187894 G - DEL ENTPD6 ENST00000376652 human ensembl 74_37 +1 known frame_shift_del c.237 p.A81fs 0.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD6 HGNC ENSG00000197586 69 0 0 47 18 27.6923 DEFB124 0 genome.wustl.edu 37 20 30060721 30060722 + RNA DEL CA CA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 30060721 30060722 CA - DEL DEFB124 ENST00000481595 human ensembl 74_37 -1 known rna NULL NULL 0.435:0.465 - - - no_errors DEFB124 HGNC ENSG00000180383 23 0 0 15 14 48.2759 HM13 0 genome.wustl.edu 37 20 30142485 30142487 + RNA DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 30142485 30142487 AAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155 - - - no_errors HM13 HGNC ENSG00000101294 11 0 0 10 12 54.5455 MYLK2 0 genome.wustl.edu 37 20 30419541 30419542 + Frame_Shift_Del DEL AC AC - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 30419541 30419542 AC - DEL MYLK2 ENST00000375985 human ensembl 74_37 +1 known frame_shift_del c.1460_1461 p.T488fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 131 0 0 112 6 5.08475 BPIFA3 0 genome.wustl.edu 37 20 31805219 31805219 + RNA DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 31805219 31805219 G - DEL BPIFA3 ENST00000471233 human ensembl 74_37 +1 known rna NULL NULL 0.742 - - - no_errors BPIFA3 HGNC ENSG00000131059 11 0 0 9 8 47.0588 ZNF335 0 genome.wustl.edu 37 20 44598221 44598221 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 44598221 44598221 G - DEL ZNF335 ENST00000322927 human ensembl 74_37 -1 known frame_shift_del c.311 p.P104fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 103 0 0 63 23 26.7442 DDX27 0 genome.wustl.edu 37 20 47858504 47858505 + Frame_Shift_Del DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 47858504 47858505 AA - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065_2066 p.K691fs 1.000:1.000 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 DDX27 HGNC ENSG00000124228 102 1 0.970874 68 34 33.3333 DDX27 0 genome.wustl.edu 37 20 47860464 47860465 + RNA INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 47860464 47860465 - A INS DDX27 ENST00000471144 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors DDX27 HGNC ENSG00000124228 12 0 0 12 6 33.3333 ADNP 0 genome.wustl.edu 37 20 49520470 49520470 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 49520470 49520470 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.64 p.I22fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 31 0 0 39 14 26.4151 ZFP64 0 genome.wustl.edu 37 20 50769075 50769076 + Frame_Shift_Ins INS - - GG TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 50769075 50769076 - GG INS ZFP64 ENST00000216923 human ensembl 74_37 -1 known frame_shift_ins c.1656_1655 p.Q553fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 52 0 0 42 10 19.2308 ZNF831 0 genome.wustl.edu 37 20 57769140 57769140 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 57769140 57769140 G - DEL ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_del c.3066 p.D1025fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 25 0 0 29 9 23.6842 TAF4 0 genome.wustl.edu 37 20 60575303 60575303 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 60575303 60575303 T - DEL TAF4 ENST00000252996 human ensembl 74_37 -1 known frame_shift_del c.2664 p.K888fs 1.000 pfam_TAF4,superfamily_Histone-fold pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 103 0 0 79 38 32.4786 OSBPL2 0 genome.wustl.edu 37 20 60854258 60854258 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 60854258 60854258 C - DEL OSBPL2 ENST00000313733 human ensembl 74_37 +1 known frame_shift_del c.537 p.I182fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 99 0 0 85 21 19.8113 DIDO1 0 genome.wustl.edu 37 20 61512527 61512528 + Frame_Shift_Del DEL TC TC - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 20 61512527 61512528 TC - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.4781_4780 p.D1594fs 0.171:0.244 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 35 0 0 24 14 36.8421 TPTE 0 genome.wustl.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 10944697 10944697 A - DEL TPTE ENST00000361285 human ensembl 74_37 -1 known frame_shift_del c.537 p.F179fs 0.335 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 244 0 0 233 34 12.7341 SCAF4 0 genome.wustl.edu 37 21 33074655 33074655 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 33074655 33074655 T - DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.359 p.N120fs 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 60 0 0 53 29 35.3659 PIGP 0 genome.wustl.edu 37 21 38444815 38444815 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 38444815 38444815 T - DEL PIGP ENST00000464265 human ensembl 74_37 -1 known frame_shift_del c.73 p.M25fs 1.000 pirsf_PIG-P_GPI19 pfam_PIG-P,pirsf_PIG-P_GPI19 - no_errors PIGP HGNC ENSG00000185808 253 0 0 159 95 37.4016 FLJ45139 0 genome.wustl.edu 37 21 40250362 40250363 + RNA DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 40250362 40250363 AA - DEL FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 13 0 0 11 5 31.25 MX1 0 genome.wustl.edu 37 21 42824678 42824680 + In_Frame_Del DEL AGA AGA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 42824678 42824680 AGA - DEL MX1 ENST00000398598 human ensembl 74_37 +1 known in_frame_del c.1640_1642 p.K548in_frame_del 0.905:0.907:0.894 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 225 0 0 140 67 32.3671 ZBTB21 0 genome.wustl.edu 37 21 43413803 43413803 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 43413803 43413803 T - DEL ZBTB21 ENST00000310826 human ensembl 74_37 -1 known frame_shift_del c.402 p.V135fs 0.002 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 66 0 0 35 22 38.5965 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662900 47662902 + RNA DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 21 47662900 47662902 AAA - DEL MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 38 0 0 22 17 43.5897 ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17140438 17140438 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 17140438 17140438 T - DEL ANKRD62P1-PARP4P3 ENST00000456726 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 53 0 0 31 17 35.4167 GNAZ 0 genome.wustl.edu 37 22 23438487 23438488 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 23438487 23438488 - G INS GNAZ ENST00000248996 human ensembl 74_37 +1 known frame_shift_ins c.605_606 p.Q205fs 1.000:1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 154 0 0 109 53 32.716 CABIN1 0 genome.wustl.edu 37 22 24573647 24573647 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 24573647 24573647 C - DEL CABIN1 ENST00000263119 human ensembl 74_37 +1 known frame_shift_del c.6381 p.L2129fs 0.995 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 68 0 0 39 16 29.0909 RFPL1S 0 genome.wustl.edu 37 22 29835329 29835329 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 29835329 29835329 A - DEL RFPL1S ENST00000461286 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RFPL1S HGNC ENSG00000225465 10 0 0 2 6 75 OSBP2 0 genome.wustl.edu 37 22 31289120 31289120 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 31289120 31289120 C - DEL OSBP2 ENST00000332585 human ensembl 74_37 +1 known frame_shift_del c.1881 p.S630fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 53 0 0 16 25 60.9756 CBX6 0 genome.wustl.edu 37 22 39262729 39262729 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 39262729 39262729 G - DEL CBX6 ENST00000407418 human ensembl 74_37 -1 known frame_shift_del c.724 p.L242fs 0.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 72 0 0 54 22 28.9474 POLDIP3 0 genome.wustl.edu 37 22 42988010 42988011 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 42988010 42988011 - T INS POLDIP3 ENST00000252115 human ensembl 74_37 -1 known frame_shift_ins c.972_971 p.D325fs 0.993:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors POLDIP3 HGNC ENSG00000100227 145 0 0 60 95 61.2903 EFCAB6 0 genome.wustl.edu 37 22 44004420 44004420 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 44004420 44004420 C - DEL EFCAB6 ENST00000262726 human ensembl 74_37 -1 known frame_shift_del c.2623 p.A875fs 0.012 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 72 0 0 53 26 32.9114 CERK 0 genome.wustl.edu 37 22 47086002 47086002 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 47086002 47086002 C - DEL CERK ENST00000216264 human ensembl 74_37 -1 known frame_shift_del c.1428 p.K477fs 0.009 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 68 0 0 76 11 12.6437 TTLL8 0 genome.wustl.edu 37 22 50469119 50469120 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 22 50469119 50469120 - G INS TTLL8 ENST00000266182 human ensembl 74_37 -1 known frame_shift_ins c.1943_1942 p.L648fs 0.000:0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 10 0 0 4 5 55.5556 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 68 0 0 38 24 38.7097 EAF2 0 genome.wustl.edu 37 3 121573658 121573659 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 121573658 121573659 - A INS EAF2 ENST00000273668 human ensembl 74_37 +1 known frame_shift_ins c.326_327 p.T112fs 1.000:0.970 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 83 0 0 68 35 33.9806 PLXNA1 0 genome.wustl.edu 37 3 126735391 126735391 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 126735391 126735391 C - DEL PLXNA1 ENST00000393409 human ensembl 74_37 +1 known frame_shift_del c.3046 p.Q1019fs 0.981 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 132 0 0 71 27 27.551 SLC35G2 0 genome.wustl.edu 37 3 136573486 136573486 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 136573486 136573486 A - DEL SLC35G2 ENST00000393079 human ensembl 74_37 +1 known frame_shift_del c.184 p.66fs 1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 135 1 0.735294 97 51 34.4595 ESYT3 0 genome.wustl.edu 37 3 138195072 138195072 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 138195072 138195072 T - DEL ESYT3 ENST00000389567 human ensembl 74_37 +1 known frame_shift_del c.2476 p.F827fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 64 0 0 53 31 36.9048 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184165 + RNA DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 142184164 142184165 AA - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 13 0 0 13 7 35 DHX36 0 genome.wustl.edu 37 3 154042078 154042080 + In_Frame_Del DEL CCG CCG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 154042078 154042080 CCG - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known in_frame_del c.128_126 p.G46in_frame_del 0.510:0.499:0.398 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 83 0 0 51 25 32.8947 EAF1-AS1 0 genome.wustl.edu 37 3 15480599 15480599 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 15480599 15480599 T - DEL EAF1-AS1 ENST00000494875 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors EAF1-AS1 HGNC ENSG00000249786 20 0 0 15 5 25 TRIM59 0 genome.wustl.edu 37 3 160155773 160155774 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 160155773 160155774 - G INS TRIM59 ENST00000309784 human ensembl 74_37 -1 known frame_shift_ins c.1199_1198 p.I400fs 0.001:0.001 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM59 HGNC ENSG00000213186 48 0 0 30 16 34.7826 PLD1 0 genome.wustl.edu 37 3 171455827 171455828 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 171455827 171455828 - T INS PLD1 ENST00000351298 human ensembl 74_37 -1 known frame_shift_ins c.15_14 p.N5fs 0.097:0.075 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 83 0 0 57 19 25 LAMP3 0 genome.wustl.edu 37 3 182872079 182872079 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 182872079 182872079 T - DEL LAMP3 ENST00000265598 human ensembl 74_37 -1 known frame_shift_del c.150 p.K50fs 0.064 NULL pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP3 HGNC ENSG00000078081 122 0 0 85 39 31.4516 EHHADH 0 genome.wustl.edu 37 3 184910086 184910086 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 184910086 184910086 T - DEL EHHADH ENST00000231887 human ensembl 74_37 -1 known frame_shift_del c.2100 p.K700fs 0.998 pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 80 0 0 64 22 25.5814 PCYT1A 0 genome.wustl.edu 37 3 195966504 195966504 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 195966504 195966504 T - DEL PCYT1A ENST00000292823 human ensembl 74_37 -1 known frame_shift_del c.811 p.S271fs 1.000 superfamily_NA-bd_OB-fold pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 48 0 0 35 21 37.5 HMGB1P5 0 genome.wustl.edu 37 3 22423968 22423968 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 22423968 22423968 T - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 50 0 0 31 18 36.7347 ZNF619 0 genome.wustl.edu 37 3 40528461 40528461 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 40528461 40528461 A - DEL ZNF619 ENST00000447116 human ensembl 74_37 +1 known frame_shift_del c.580 p.T195fs 0.056 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 ZNF619 HGNC ENSG00000177873 74 0 0 56 37 39.7849 TRAK1 0 genome.wustl.edu 37 3 42265237 42265238 + RNA INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 42265237 42265238 - T INS TRAK1 ENST00000487159 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors TRAK1 HGNC ENSG00000182606 55 0 0 36 9 20 SUMF1 0 genome.wustl.edu 37 3 4494631 4494631 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 4494631 4494631 A - DEL SUMF1 ENST00000448413 human ensembl 74_37 -1 known frame_shift_del c.373 p.Y125fs 1.000 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC ENSG00000144455 83 0 0 58 32 35.5556 NBEAL2 0 genome.wustl.edu 37 3 47042816 47042816 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 47042816 47042816 C - DEL NBEAL2 ENST00000450053 human ensembl 74_37 +1 known frame_shift_del c.4532 p.V1513fs 0.994 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 106 0 0 57 19 25 CELSR3 0 genome.wustl.edu 37 3 48699541 48699543 + In_Frame_Del DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 48699541 48699543 AAA - DEL CELSR3 ENST00000544264 human ensembl 74_37 -1 known in_frame_del c.527_525 p.F175in_frame_del 0.003:0.009:0.097 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 140 0 0 92 35 27.5591 IP6K2 0 genome.wustl.edu 37 3 48726979 48726980 + Frame_Shift_Del DEL CA CA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 48726979 48726980 CA - DEL IP6K2 ENST00000328631 human ensembl 74_37 -1 known frame_shift_del c.772_771 p.C257fs 1.000:0.995 pfam_IPK pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 85 0 0 56 27 32.5301 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 69 0 0 17 18 51.4286 PRKCD 0 genome.wustl.edu 37 3 53215749 53215752 + Splice_Site DEL GTAA GTAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 53215749 53215752 GTAA - DEL PRKCD ENST00000330452 human ensembl 74_37 +1 known splice_site_del c.571+1_571+1 e5+1 1.000:1.000:1.000:1.000 - - - no_errors PRKCD HGNC ENSG00000163932 43 0 0 40 17 29.8246 FLNB 0 genome.wustl.edu 37 3 58089787 58089788 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 58089787 58089788 - G INS FLNB ENST00000295956 human ensembl 74_37 +1 known frame_shift_ins c.1585_1586 p.H532fs 1.000:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 83 0 0 45 31 40.7895 ATXN7 0 genome.wustl.edu 37 3 63938154 63938156 + In_Frame_Del DEL ATT ATT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 ATT ATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 63938154 63938156 ATT - DEL ATXN7 ENST00000398590 human ensembl 74_37 +1 known in_frame_del c.494_496 p.Y166in_frame_del 1.000:1.000:1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 62 0 0 51 14 21.5385 PSMD6 0 genome.wustl.edu 37 3 64005085 64005086 + Frame_Shift_Del DEL AT AT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 64005085 64005086 AT - DEL PSMD6 ENST00000295901 human ensembl 74_37 -1 known frame_shift_del c.384_383 p.Y128fs 0.994:1.000 pfam_26S_proteasome_reg_su-Rpn7 pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 82 0 0 80 7 8.04598 SUCLG2 0 genome.wustl.edu 37 3 67570955 67570955 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 67570955 67570955 C - DEL SUCLG2 ENST00000307227 human ensembl 74_37 -1 known frame_shift_del c.521 p.G174fs 1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 136 0 0 91 36 28.3465 UBA3 0 genome.wustl.edu 37 3 69129290 69129292 + In_Frame_Del DEL CTT CTT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 69129290 69129292 CTT - DEL UBA3 ENST00000361055 human ensembl 74_37 -1 known in_frame_del c.35_33 p.R13in_frame_del 1.000:1.000:1.000 NULL pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA3 HGNC ENSG00000144744 75 0 0 54 14 20.5882 ARL13B 0 genome.wustl.edu 37 3 93761893 93761893 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 93761893 93761893 A - DEL ARL13B ENST00000394222 human ensembl 74_37 +1 known frame_shift_del c.833 p.M280fs 0.983 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 36 0 0 21 10 32.2581 SETD5 0 genome.wustl.edu 37 3 9517295 9517295 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 9517295 9517295 C - DEL SETD5 ENST00000402198 human ensembl 74_37 +1 known frame_shift_del c.3849 p.S1286fs 0.997 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 92 0 0 76 30 28.3019 FILIP1L 0 genome.wustl.edu 37 3 99568272 99568273 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 99568272 99568273 - T INS FILIP1L ENST00000354552 human ensembl 74_37 -1 known frame_shift_ins c.2248_2247 p.L749fs 1.000:1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 142 1 0.699301 106 48 31.1688 IL17RC 0 genome.wustl.edu 37 3 9965696 9965696 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 3 9965696 9965696 A - DEL IL17RC ENST00000295981 human ensembl 74_37 +1 known frame_shift_del c.967 p.N324fs 0.083 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 96 0 0 63 32 33.6842 DAPP1 0 genome.wustl.edu 37 4 100789277 100789278 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 100789277 100789278 - A INS DAPP1 ENST00000512369 human ensembl 74_37 +1 known frame_shift_ins c.778_779 p.I261fs 1.000:1.000 smart_Pleckstrin_homology pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC ENSG00000070190 80 0 0 74 28 27.451 BANK1 0 genome.wustl.edu 37 4 102951317 102951317 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 102951317 102951317 A - DEL BANK1 ENST00000322953 human ensembl 74_37 +1 known frame_shift_del c.1795 p.T601fs 0.978 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 83 0 0 77 29 27.3585 SLC39A8 0 genome.wustl.edu 37 4 103189225 103189225 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 103189225 103189225 T - DEL SLC39A8 ENST00000356736 human ensembl 74_37 -1 known frame_shift_del c.852 p.E285fs 0.000 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 108 0 0 45 29 39.1892 SLC9B1 0 genome.wustl.edu 37 4 103870465 103870465 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 103870465 103870465 T - DEL SLC9B1 ENST00000296422 human ensembl 74_37 -1 known frame_shift_del c.331 p.I111fs 0.045 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 168 0 0 151 44 22.5641 SLC9B1 0 genome.wustl.edu 37 4 103870488 103870489 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 103870488 103870489 - A INS SLC9B1 ENST00000296422 human ensembl 74_37 -1 known frame_shift_ins c.308_307 p.Y103fs 0.935:0.989 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 108 0 0 100 25 20 TACR3 0 genome.wustl.edu 37 4 104640638 104640638 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 104640638 104640638 G - DEL TACR3 ENST00000304883 human ensembl 74_37 -1 known frame_shift_del c.195 p.A66fs 0.059 prints_NK3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 71 0 0 49 16 24.6154 INTS12 0 genome.wustl.edu 37 4 106621122 106621122 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 106621122 106621122 A - DEL INTS12 ENST00000340139 human ensembl 74_37 -1 known frame_shift_del c.41 p.L14fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 152 0 0 138 50 26.5957 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 29 0 0 27 12 30.7692 NDST4 0 genome.wustl.edu 37 4 115773883 115773884 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 115773883 115773884 - T INS NDST4 ENST00000264363 human ensembl 74_37 -1 known frame_shift_ins c.1814_1813 p.T605fs 1.000:1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 50 0 0 26 20 43.4783 SCLT1 0 genome.wustl.edu 37 4 129869675 129869675 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 129869675 129869675 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.1269 p.A424fs 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 55 0 0 30 12 28.5714 PCDH18 0 genome.wustl.edu 37 4 138452697 138452697 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 138452697 138452697 A - DEL PCDH18 ENST00000344876 human ensembl 74_37 -1 known frame_shift_del c.546 p.F182fs 0.005 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 PCDH18 HGNC ENSG00000189184 53 0 0 33 20 37.7358 FNIP2 0 genome.wustl.edu 37 4 159782570 159782571 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 159782570 159782571 - A INS FNIP2 ENST00000379346 human ensembl 74_37 +1 known frame_shift_ins c.1294_1295 p.N434fs 1.000:1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 46 0 0 30 20 40 NEK1 0 genome.wustl.edu 37 4 170428203 170428203 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 170428203 170428203 T - DEL NEK1 ENST00000507142 human ensembl 74_37 -1 known frame_shift_del c.1992 p.V665fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 10 0 0 23 5 17.8571 ADAM29 0 genome.wustl.edu 37 4 175898771 175898771 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 175898771 175898771 A - DEL ADAM29 ENST00000359240 human ensembl 74_37 +1 known frame_shift_del c.2095 p.S701fs 0.005 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 39 0 0 23 14 37.8378 CCDC110 0 genome.wustl.edu 37 4 186379967 186379967 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 186379967 186379967 T - DEL CCDC110 ENST00000307588 human ensembl 74_37 -1 known frame_shift_del c.1774 p.T592fs 0.049 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 43 0 0 29 16 35.5556 GRK4 0 genome.wustl.edu 37 4 3040280 3040282 + RNA DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 3040280 3040282 AAA - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003:0.005 - - - no_errors GRK4 HGNC ENSG00000125388 35 0 0 21 13 38.2353 KLF3 0 genome.wustl.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 38691476 38691476 C - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.671 p.P226fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 137 0 0 93 46 33.0935 UGDH 0 genome.wustl.edu 37 4 39505574 39505575 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 39505574 39505575 - T INS UGDH ENST00000316423 human ensembl 74_37 -1 known frame_shift_ins c.1295_1294 p.M432fs 1.000:1.000 pfam_UDP-Glc/GDP-Man_DH_C,superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 32 0 0 35 7 16.6667 LIMCH1 0 genome.wustl.edu 37 4 41605923 41605926 + Splice_Site DEL GTAA GTAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 41605923 41605926 GTAA - DEL LIMCH1 ENST00000503057 human ensembl 74_37 +1 known splice_site_del c.1+1_4 e0+1 1.000:1.000:1.000:1.000 - - - no_errors LIMCH1 HGNC ENSG00000064042 52 0 0 34 9 20.9302 KIAA1211 0 genome.wustl.edu 37 4 57179502 57179503 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 57179502 57179503 - A INS KIAA1211 ENST00000504228 human ensembl 74_37 +1 known frame_shift_ins c.494_495 p.Q168fs 1.000:0.997 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 121 0 0 66 26 28.2609 REST 0 genome.wustl.edu 37 4 57798156 57798156 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 57798156 57798156 A - DEL REST ENST00000309042 human ensembl 74_37 +1 known frame_shift_del c.3132 p.N1046fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 38 0 0 42 10 19.2308 EPHA5 0 genome.wustl.edu 37 4 66467573 66467573 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 66467573 66467573 T - DEL EPHA5 ENST00000273854 human ensembl 74_37 -1 known frame_shift_del c.696 p.K232fs 0.986 pfam_Ephrin_rcpt_lig-bd_dom,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 39 0 0 34 22 39.2857 TMPRSS11A 0 genome.wustl.edu 37 4 68810346 68810346 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 68810346 68810346 T - DEL TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known frame_shift_del c.143 p.K48fs 0.055 pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 30 0 0 26 18 40.9091 MUC7 0 genome.wustl.edu 37 4 71346700 71346701 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 71346700 71346701 - C INS MUC7 ENST00000304887 human ensembl 74_37 +1 known frame_shift_ins c.239_240 p.K83fs 0.000:0.000 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 119 0 0 72 37 33.945 AMTN 0 genome.wustl.edu 37 4 71394929 71394930 + Splice_Site INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 71394929 71394930 - A INS AMTN ENST00000339336 human ensembl 74_37 +1 known splice_site_ins c.357+2_357+1 e6+2 1.000:0.995 - - - no_errors AMTN HGNC ENSG00000187689 11 0 0 13 5 27.7778 PCGF3 0 genome.wustl.edu 37 4 728799 728799 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 728799 728799 C - DEL PCGF3 ENST00000362003 human ensembl 74_37 +1 known frame_shift_del c.189 p.L65fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 40 0 0 23 8 25.8065 CNOT6L 0 genome.wustl.edu 37 4 78697453 78697453 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 78697453 78697453 T - DEL CNOT6L ENST00000264903 human ensembl 74_37 -1 known frame_shift_del c.99 p.K33fs 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC ENSG00000138767 115 0 0 105 48 31.3725 FRAS1 0 genome.wustl.edu 37 4 79410048 79410049 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 79410048 79410049 - A INS FRAS1 ENST00000264895 human ensembl 74_37 +1 known frame_shift_ins c.8772_8773 p.D2925fs 0.999:1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 28 0 0 18 13 41.9355 PRDM8 0 genome.wustl.edu 37 4 81123249 81123250 + In_Frame_Ins INS - - CAG TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 81123249 81123250 - CAG INS PRDM8 ENST00000339711 human ensembl 74_37 +1 known in_frame_ins c.633_634 p.215in_frame_insQ 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 58 0 0 45 16 26.2295 THAP9 0 genome.wustl.edu 37 4 83838382 83838382 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 83838382 83838382 T - DEL THAP9 ENST00000302236 human ensembl 74_37 +1 known frame_shift_del c.1017 p.F341fs 0.996 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 137 0 0 108 40 27.027 CDS1 0 genome.wustl.edu 37 4 85530586 85530586 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 85530586 85530586 A - DEL CDS1 ENST00000295887 human ensembl 74_37 +1 known frame_shift_del c.250 p.N85fs 1.000 pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 95 0 0 109 13 10.6557 ENSG00000273389 0 genome.wustl.edu 37 4 86921603 86921603 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 86921603 86921603 C - DEL ENSG00000273389 ENST00000610225 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP13-514E23.2 Clone_based_vega_gene ENSG00000273389 58 0 0 47 16 25.3968 GRID2 0 genome.wustl.edu 37 4 93225753 93225753 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 93225753 93225753 A - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 23 0 0 5 12 70.5882 HPGDS 0 genome.wustl.edu 37 4 95239029 95239029 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 4 95239029 95239029 T - DEL HPGDS ENST00000295256 human ensembl 74_37 -1 known frame_shift_del c.221 p.N74fs 0.997 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 39 0 0 36 14 28 ZNF608 0 genome.wustl.edu 37 5 123983920 123983920 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 123983920 123983920 T - DEL ZNF608 ENST00000306315 human ensembl 74_37 -1 known frame_shift_del c.2157 p.A720fs 0.999 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 46 0 0 30 21 41.1765 RAPGEF6 0 genome.wustl.edu 37 5 130831315 130831315 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 130831315 130831315 A - DEL RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known frame_shift_del c.1458 p.F486fs 0.999 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 55 0 0 37 10 21.2766 RAD50 0 genome.wustl.edu 37 5 131931451 131931452 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 131931451 131931452 - A INS RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_ins c.2156_2157 p.K723fs 1.000:0.997 superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 93 0 0 64 24 27.2727 CTNNA1 0 genome.wustl.edu 37 5 138266535 138266535 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 138266535 138266535 A - DEL CTNNA1 ENST00000302763 human ensembl 74_37 +1 known frame_shift_del c.2209 p.N738fs 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 117 0 0 63 23 26.7442 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 31 0 0 19 5 20.8333 PCDHB12 0 genome.wustl.edu 37 5 140588924 140588924 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140588924 140588924 G - DEL PCDHB12 ENST00000239450 human ensembl 74_37 +1 known frame_shift_del c.445 p.G149fs 0.449 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 99 0 0 108 7 6.08696 PCDHGC3 0 genome.wustl.edu 37 5 140857742 140857742 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 140857742 140857742 A - DEL PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known frame_shift_del c.2059 p.N689fs 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 268 0 0 172 77 30.9237 RBM27 0 genome.wustl.edu 37 5 145647320 145647321 + Frame_Shift_Del DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 145647320 145647321 AA - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440_2441 p.K816fs 1.000:1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 63 0 0 61 28 31.4607 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 105 0 0 68 26 27.6596 GLRA1 0 genome.wustl.edu 37 5 151304199 151304199 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 151304199 151304199 A - DEL GLRA1 ENST00000471351 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors GLRA1 HGNC ENSG00000145888 25 0 0 17 10 37.037 SPDL1 0 genome.wustl.edu 37 5 169015404 169015404 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 169015404 169015404 A - DEL SPDL1 ENST00000510751 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPDL1 HGNC ENSG00000040275 33 0 0 36 14 28 SH3PXD2B 0 genome.wustl.edu 37 5 171785810 171785810 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 171785810 171785810 C - DEL SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known frame_shift_del c.634 p.V212fs 0.909 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 38 0 0 13 6 31.5789 ZNF354B 0 genome.wustl.edu 37 5 178309869 178309869 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 178309869 178309869 A - DEL ZNF354B ENST00000322434 human ensembl 74_37 +1 known frame_shift_del c.416 p.N140fs 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354B HGNC ENSG00000178338 41 0 0 26 25 49.0196 IL7R 0 genome.wustl.edu 37 5 35874637 35874637 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 35874637 35874637 A - DEL IL7R ENST00000303115 human ensembl 74_37 +1 known frame_shift_del c.793 p.R267fs 0.967 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 93 0 0 76 25 24.7525 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 62 0 0 50 25 33.3333 EGFLAM 0 genome.wustl.edu 37 5 38407192 38407192 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 38407192 38407192 G - DEL EGFLAM ENST00000354891 human ensembl 74_37 +1 known frame_shift_del c.1091 p.G366fs 0.996 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 65 0 0 47 14 22.9508 PLK2 0 genome.wustl.edu 37 5 57753011 57753012 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 57753011 57753012 - A INS PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_ins c.1005_1004 p.L335fs 1.000:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 42 0 0 32 17 34.6939 MAST4 0 genome.wustl.edu 37 5 66459717 66459718 + Frame_Shift_Del DEL AG AG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 66459717 66459718 AG - DEL MAST4 ENST00000404260 human ensembl 74_37 +1 known frame_shift_del c.4719_4720 p.K1577fs 0.189:0.652 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 37 0 0 27 6 18.1818 MRPS27 0 genome.wustl.edu 37 5 71615931 71615932 + RNA INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 71615931 71615932 - A INS MRPS27 ENST00000523654 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.005 - - - no_errors MRPS27 HGNC ENSG00000113048 55 0 0 30 19 38.7755 BHMT 0 genome.wustl.edu 37 5 78417152 78417152 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 78417152 78417152 C - DEL BHMT ENST00000274353 human ensembl 74_37 +1 known frame_shift_del c.589 p.G199fs 0.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 92 0 0 57 29 33.7209 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 163 0 0 139 55 28.3505 CETN3 0 genome.wustl.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 89701581 89701581 T - DEL CETN3 ENST00000283122 human ensembl 74_37 -1 known frame_shift_del c.189 p.A64fs 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 69 0 0 51 14 21.5385 SPATA9 0 genome.wustl.edu 37 5 94991656 94991656 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 94991656 94991656 T - DEL SPATA9 ENST00000477047 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPATA9 HGNC ENSG00000145757 11 0 0 12 5 29.4118 RHOBTB3 0 genome.wustl.edu 37 5 95119656 95119656 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 5 95119656 95119656 A - DEL RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known frame_shift_del c.1612 p.K539fs 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 63 0 0 45 24 34.7826 CCNC 0 genome.wustl.edu 37 6 100006296 100006297 + Frame_Shift_Del DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 100006296 100006297 AA - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative frame_shift_del c.423_422 p.F141fs 0.007:0.028 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 37 0 0 10 21 67.7419 GRIK2 0 genome.wustl.edu 37 6 102307246 102307247 + Frame_Shift_Del DEL AG AG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 102307246 102307247 AG - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.1402_1403 p.E469fs 1.000:1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 55 0 0 35 14 28.5714 ENSG00000271730 0 genome.wustl.edu 37 6 109319968 109319969 + RNA DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 109319968 109319969 AA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 65 0 0 42 26 38.2353 SYCP2L 0 genome.wustl.edu 37 6 10956452 10956453 + Frame_Shift_Del DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 10956452 10956453 AA - DEL SYCP2L ENST00000283141 human ensembl 74_37 +1 known frame_shift_del c.2140_2141 p.K715fs 0.000:0.000 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 46 0 0 41 16 28.0702 AK9 0 genome.wustl.edu 37 6 109818703 109818704 + Frame_Shift_Ins INS - - AT TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 109818703 109818704 - AT INS AK9 ENST00000424296 human ensembl 74_37 -1 known frame_shift_ins c.5280_5279 p.C1761fs 0.996:0.996 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 37 0 0 30 7 18.9189 REV3L 0 genome.wustl.edu 37 6 111709248 111709248 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 111709248 111709248 A - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.903 p.Q302fs 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 58 0 0 46 28 37.8378 MARCKS 0 genome.wustl.edu 37 6 114181210 114181210 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 114181210 114181210 A - DEL MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_del c.454 p.K155fs 1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 22 0 0 7 15 68.1818 ZUFSP 0 genome.wustl.edu 37 6 116967058 116967058 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 116967058 116967058 T - DEL ZUFSP ENST00000368576 human ensembl 74_37 -1 known frame_shift_del c.1508 p.N503fs 1.000 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 63 0 0 38 23 37.7049 ROS1 0 genome.wustl.edu 37 6 117681119 117681120 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 117681119 117681120 - A INS ROS1 ENST00000368508 human ensembl 74_37 -1 known frame_shift_ins c.3501_3500 p.L1167fs 0.982:0.828 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 64 0 0 49 19 27.9412 FAM184A 0 genome.wustl.edu 37 6 119344234 119344234 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 119344234 119344234 T - DEL FAM184A ENST00000338891 human ensembl 74_37 -1 known frame_shift_del c.1026 p.K342fs 0.998 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 96 0 0 75 27 26.4706 HIVEP1 0 genome.wustl.edu 37 6 12089463 12089463 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 12089463 12089463 A - DEL HIVEP1 ENST00000379388 human ensembl 74_37 +1 known frame_shift_del c.87 p.E32fs 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 62 0 0 52 16 23.5294 THEMIS 0 genome.wustl.edu 37 6 128134568 128134568 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 128134568 128134568 T - DEL THEMIS ENST00000543064 human ensembl 74_37 -1 known frame_shift_del c.1218 p.V407fs 0.397 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 77 0 0 50 18 26.4706 ARHGAP18 0 genome.wustl.edu 37 6 129921947 129921947 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 129921947 129921947 T - DEL ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known frame_shift_del c.1412 p.N471fs 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 56 0 0 51 17 25 PHACTR1 0 genome.wustl.edu 37 6 13206135 13206135 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 13206135 13206135 G - DEL PHACTR1 ENST00000379350 human ensembl 74_37 +1 known frame_shift_del c.753 p.P254fs 0.087 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 110 0 0 49 25 33.7838 HIVEP2 0 genome.wustl.edu 37 6 143094745 143094745 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 143094745 143094745 T - DEL HIVEP2 ENST00000012134 human ensembl 74_37 -1 known frame_shift_del c.1131 p.G378fs 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 148 0 0 110 60 35.2941 SYNE1 0 genome.wustl.edu 37 6 152776589 152776590 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 152776589 152776590 - C INS SYNE1 ENST00000265368 human ensembl 74_37 -1 known frame_shift_ins c.2864_2863 p.D955fs 0.889:0.888 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 84 0 0 57 25 30.4878 ARID1B 0 genome.wustl.edu 37 6 157527817 157527817 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 157527817 157527817 C - DEL ARID1B ENST00000367148 human ensembl 74_37 +1 known frame_shift_del c.5662 p.L1890fs 0.002 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 123 0 0 62 33 34.7368 TULP4 0 genome.wustl.edu 37 6 158900957 158900957 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 158900957 158900957 C - DEL TULP4 ENST00000367097 human ensembl 74_37 +1 known frame_shift_del c.1201 p.R403fs 1.000 pfam_SOCS_C,superfamily_Tumour_necrosis_fac-like_dom,smart_SOCS_C,pfscan_SOCS_C pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 75 0 0 56 22 28.2051 IGF2R 0 genome.wustl.edu 37 6 160461692 160461694 + In_Frame_Del DEL CCT CCT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 160461692 160461694 CCT - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known in_frame_del c.1416_1418 p.L474in_frame_del 0.892:0.893:0.547 pfam_CIMR pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 153 0 0 106 46 30.2632 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 71 0 0 33 47 58.75 TTLL2 0 genome.wustl.edu 37 6 167754366 167754367 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 167754366 167754367 - T INS TTLL2 ENST00000239587 human ensembl 74_37 +1 known frame_shift_ins c.978_979 p.S328fs 0.976:0.994 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 195 0 0 137 65 32.1782 THBS2 0 genome.wustl.edu 37 6 169646212 169646213 + RNA DEL AC AC - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 169646212 169646213 AC - DEL THBS2 ENST00000472733 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors THBS2 HGNC ENSG00000186340 20 0 0 14 8 36.3636 RBM24 0 genome.wustl.edu 37 6 17292449 17292451 + RNA DEL AAA AAA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 17292449 17292451 AAA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719:0.391 - - - no_errors RBM24 HGNC ENSG00000112183 17 0 0 3 7 70 TCF19 0 genome.wustl.edu 37 6 31127312 31127312 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 31127312 31127312 C - DEL TCF19 ENST00000376255 human ensembl 74_37 +1 known frame_shift_del c.66 p.A25fs 0.998 superfamily_SMAD_FHA_domain pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 18 0 0 13 9 40.9091 LSM2 0 genome.wustl.edu 37 6 31765402 31765402 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 31765402 31765402 A - DEL LSM2 ENST00000470083 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LSM2 HGNC ENSG00000204392 40 0 0 21 13 38.2353 RGL2 0 genome.wustl.edu 37 6 33263965 33263965 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 33263965 33263965 C - DEL RGL2 ENST00000497454 human ensembl 74_37 -1 known frame_shift_del c.608 p.G203fs 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 241 1 0.413223 190 67 26.07 PRPF4B 0 genome.wustl.edu 37 6 4032686 4032687 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 4032686 4032687 - A INS PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_ins c.935_936 p.S314fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 87 0 0 59 26 30.5882 UNC5CL 0 genome.wustl.edu 37 6 41002639 41002639 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 41002639 41002639 G - DEL UNC5CL ENST00000244565 human ensembl 74_37 -1 known frame_shift_del c.175 p.Q59fs 0.000 NULL pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 125 0 0 79 30 27.5229 CUL7 0 genome.wustl.edu 37 6 43018130 43018130 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 43018130 43018130 A - DEL CUL7 ENST00000535468 human ensembl 74_37 -1 known frame_shift_del c.1492 p.W498fs 1.000 pfam_CPH_domain pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 75 0 0 41 17 29.3103 SLC22A7 0 genome.wustl.edu 37 6 43271815 43271815 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 43271815 43271815 G - DEL SLC22A7 ENST00000372585 human ensembl 74_37 +1 known frame_shift_del c.1425 p.G477fs 0.990 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 217 0 0 138 68 33.0097 PLA2G7 0 genome.wustl.edu 37 6 46675819 46675820 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 46675819 46675820 - A INS PLA2G7 ENST00000274793 human ensembl 74_37 -1 known frame_shift_ins c.949_948 p.I316fs 1.000:1.000 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote - no_errors PLA2G7 HGNC ENSG00000146070 63 0 0 31 26 45.614 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 12 0 0 6 3 33.3333 SMAP1 0 genome.wustl.edu 37 6 71546674 71546674 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 71546674 71546674 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.607 p.S205fs 0.970 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 27 0 0 23 7 23.3333 SLC17A5 0 genome.wustl.edu 37 6 74351590 74351590 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 74351590 74351590 A - DEL SLC17A5 ENST00000355773 human ensembl 74_37 -1 known frame_shift_del c.349 p.Y117fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 200 1 0.497512 166 58 25.8929 SNRNP48 0 genome.wustl.edu 37 6 7609096 7609096 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 7609096 7609096 A - DEL SNRNP48 ENST00000342415 human ensembl 74_37 +1 known frame_shift_del c.1010 p.I339fs 0.055 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 30 0 0 11 13 54.1667 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 74 0 0 58 16 21.6216 MDN1 0 genome.wustl.edu 37 6 90432675 90432675 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 6 90432675 90432675 T - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.5966 p.K1989fs 1.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 159 1 0.625 130 78 37.5 AP1S1 0 genome.wustl.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 100802404 100802405 - G INS AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_ins c.356_357 p.D122fs 1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 35 0 0 41 6 12.766 ENSG00000239969 0 genome.wustl.edu 37 7 102021057 102021057 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 102021057 102021057 A - DEL ENSG00000239969 ENST00000484974 human ensembl 74_37 +1 known rna NULL NULL 0.079 - - - no_errors RP11-163E9.2 Clone_based_vega_gene ENSG00000239969 60 0 0 52 20 27.7778 LRRC17 0 genome.wustl.edu 37 7 102584993 102584993 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 102584993 102584993 A - DEL LRRC17 ENST00000339431 human ensembl 74_37 +1 known frame_shift_del c.1265 p.K424fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 72 0 0 52 15 22.3881 C7orf50 0 genome.wustl.edu 37 7 1037311 1037311 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 1037311 1037311 G - DEL C7orf50 ENST00000357429 human ensembl 74_37 -1 known frame_shift_del c.535 p.L179fs 0.001 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 55 0 0 26 19 42.2222 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 76 0 0 63 15 19.2308 PTPRZ1 0 genome.wustl.edu 37 7 121513489 121513489 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 121513489 121513489 C - DEL PTPRZ1 ENST00000471837 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PTPRZ1 HGNC ENSG00000106278 16 0 0 10 7 41.1765 CEP41 0 genome.wustl.edu 37 7 130052065 130052065 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 130052065 130052065 T - DEL CEP41 ENST00000223208 human ensembl 74_37 -1 known frame_shift_del c.162 p.D55fs 1.000 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors CEP41 HGNC ENSG00000106477 95 0 0 73 25 25.5102 ETV1 0 genome.wustl.edu 37 7 13975472 13975473 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 13975472 13975473 - G INS ETV1 ENST00000405218 human ensembl 74_37 -1 known frame_shift_ins c.415_414 p.T138fs 0.999:0.466 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 83 0 0 59 26 30.5882 GIMAP8 0 genome.wustl.edu 37 7 150164231 150164232 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 150164231 150164232 - A INS GIMAP8 ENST00000307271 human ensembl 74_37 +1 known frame_shift_ins c.445_446 p.N151fs 0.000:0.001 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 65 0 0 48 28 36.8421 GALNT11 0 genome.wustl.edu 37 7 151791468 151791468 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 151791468 151791468 A - DEL GALNT11 ENST00000320311 human ensembl 74_37 +1 known frame_shift_del c.156 p.K54fs 0.783 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 164 0 0 127 40 23.9521 HOXA2 0 genome.wustl.edu 37 7 27140390 27140390 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 27140390 27140390 A - DEL HOXA2 ENST00000222718 human ensembl 74_37 -1 known frame_shift_del c.1086 p.F362fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 137 0 0 109 49 31.0127 GARS 0 genome.wustl.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 30634583 30634585 CTG - DEL GARS ENST00000389266 human ensembl 74_37 +1 known in_frame_del c.46_48 p.L19in_frame_del 0.090:0.073:0.025 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 34 0 0 17 3 15 ADCYAP1R1 0 genome.wustl.edu 37 7 31104447 31104448 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 31104447 31104448 - C INS ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known frame_shift_ins c.52_53 p.A20fs 0.943:0.299 prints_GPCR_2_PACAP_1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 27 0 0 16 7 30.4348 MYO1G 0 genome.wustl.edu 37 7 45010276 45010276 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 45010276 45010276 G - DEL MYO1G ENST00000258787 human ensembl 74_37 -1 known frame_shift_del c.1132 p.R378fs 0.200 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 125 0 0 78 43 35.5372 ZDHHC4 0 genome.wustl.edu 37 7 6621849 6621849 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 6621849 6621849 T - DEL ZDHHC4 ENST00000335965 human ensembl 74_37 +1 known frame_shift_del c.337 p.F115fs 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC4 HGNC ENSG00000136247 202 0 0 152 51 25.1232 ELN 0 genome.wustl.edu 37 7 73480300 73480300 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 73480300 73480300 G - DEL ELN ENST00000358929 human ensembl 74_37 +1 known frame_shift_del c.2263 p.G756fs 0.929 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 123 0 0 95 39 29.1045 SEMA3E 0 genome.wustl.edu 37 7 83029431 83029431 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 83029431 83029431 T - DEL SEMA3E ENST00000307792 human ensembl 74_37 -1 known frame_shift_del c.1279 p.T427fs 0.975 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 132 0 0 88 42 32.3077 ANKIB1 0 genome.wustl.edu 37 7 91936914 91936914 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 91936914 91936914 A - DEL ANKIB1 ENST00000265742 human ensembl 74_37 +1 known frame_shift_del c.430 p.N146fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 30 0 0 25 9 26.4706 CASD1 0 genome.wustl.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 94174999 94174999 A - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.1619 p.A543fs 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 34 0 0 21 11 34.375 LOC101927550 0 genome.wustl.edu 37 7 98630588 98630588 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 98630588 98630588 A - DEL LOC101927550 ENST00000360902 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 21 0 0 8 6 42.8571 PILRB 0 genome.wustl.edu 37 7 99957129 99957131 + In_Frame_Del DEL CCT CCT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 7 99957129 99957131 CCT - DEL PILRB ENST00000448382 human ensembl 74_37 +1 known in_frame_del c.781_783 p.P264in_frame_del 0.001:0.001:0.001 NULL NULL - no_errors PILRB HGNC ENSG00000121716 38 0 0 41 17 29.3103 POLR2K 0 genome.wustl.edu 37 8 101164033 101164033 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 101164033 101164033 T - DEL POLR2K ENST00000519765 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POLR2K HGNC ENSG00000147669 35 0 0 36 10 21.7391 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 96 0 0 142 32 18.3908 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 31 0 0 21 24 53.3333 DCSTAMP 0 genome.wustl.edu 37 8 105360820 105360821 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 105360820 105360821 - T INS DCSTAMP ENST00000297581 human ensembl 74_37 +1 known frame_shift_ins c.40_41 p.W15fs 0.087:0.113 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 101 0 0 89 35 28.2258 LRP12 0 genome.wustl.edu 37 8 105502801 105502801 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 105502801 105502801 T - DEL LRP12 ENST00000518375 human ensembl 74_37 -1 putative rna NULL NULL 0.512 - - - no_errors LRP12 HGNC ENSG00000147650 22 0 0 23 3 11.5385 DEPTOR 0 genome.wustl.edu 37 8 121013857 121013857 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 121013857 121013857 A - DEL DEPTOR ENST00000286234 human ensembl 74_37 +1 known frame_shift_del c.698 p.K234fs 0.999 NULL pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 58 0 0 50 22 30.5556 ATAD2 0 genome.wustl.edu 37 8 124335279 124335279 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 124335279 124335279 T - DEL ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_del c.4030 p.S1344fs 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 24 0 0 36 13 26.5306 FER1L6 0 genome.wustl.edu 37 8 125080031 125080031 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 125080031 125080031 A - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.3702 p.G1237fs 0.152 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 40 0 0 58 16 21.6216 PHF20L1 0 genome.wustl.edu 37 8 133826909 133826909 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 133826909 133826909 A - DEL PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative frame_shift_del c.958 p.N322fs 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 84 0 0 66 27 29.0323 PTK2 0 genome.wustl.edu 37 8 141754887 141754888 + RNA DEL AG AG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 141754887 141754888 AG - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PTK2 HGNC ENSG00000169398 37 0 0 45 3 6.25 LY6H 0 genome.wustl.edu 37 8 144239836 144239836 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 144239836 144239836 A - DEL LY6H ENST00000342752 human ensembl 74_37 -1 known frame_shift_del c.317 p.F106fs 1.000 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6H HGNC ENSG00000176956 100 0 0 119 33 21.7105 SCRIB 0 genome.wustl.edu 37 8 144890805 144890805 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 144890805 144890805 C - DEL SCRIB ENST00000320476 human ensembl 74_37 -1 known frame_shift_del c.2089 p.A697fs 0.342 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 69 0 0 72 18 20 RHOBTB2 0 genome.wustl.edu 37 8 22864673 22864673 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 22864673 22864673 G - DEL RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known frame_shift_del c.915 p.G307fs 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 117 0 0 95 30 24 PTK2B 0 genome.wustl.edu 37 8 27289871 27289871 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 27289871 27289871 C - DEL PTK2B ENST00000346049 human ensembl 74_37 +1 known frame_shift_del c.980 p.Q329fs 1.000 pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 43 0 0 40 16 28.5714 ESCO2 0 genome.wustl.edu 37 8 27634456 27634456 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 27634456 27634456 T - DEL ESCO2 ENST00000305188 human ensembl 74_37 +1 known frame_shift_del c.631 p.F212fs 1.000 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 51 0 0 64 18 21.9512 FZD3 0 genome.wustl.edu 37 8 28409242 28409242 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 28409242 28409242 T - DEL FZD3 ENST00000240093 human ensembl 74_37 +1 known frame_shift_del c.1527 p.H512fs 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 82 0 0 102 30 22.7273 WRN 0 genome.wustl.edu 37 8 31001132 31001132 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 31001132 31001132 A - DEL WRN ENST00000298139 human ensembl 74_37 +1 known frame_shift_del c.3376 p.S1128fs 0.872 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 54 0 0 85 15 15 MAK16 0 genome.wustl.edu 37 8 33354754 33354755 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 33354754 33354755 - G INS MAK16 ENST00000360128 human ensembl 74_37 +1 known frame_shift_ins c.644_645 p.K217fs 0.000:0.000 pfam_Mak16,pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 124 0 0 156 39 20 UNC5D 0 genome.wustl.edu 37 8 35583896 35583897 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 35583896 35583897 - C INS UNC5D ENST00000404895 human ensembl 74_37 +1 known frame_shift_ins c.1530_1531 p.H511fs 0.999:1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 89 0 0 83 28 25.2252 IDO1 0 genome.wustl.edu 37 8 39782815 39782815 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 39782815 39782815 G - DEL IDO1 ENST00000518237 human ensembl 74_37 +1 known frame_shift_del c.781 p.G262fs 0.998 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO1 HGNC ENSG00000131203 32 0 0 31 9 22.5 RB1CC1 0 genome.wustl.edu 37 8 53568735 53568735 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 53568735 53568735 T - DEL RB1CC1 ENST00000025008 human ensembl 74_37 -1 known frame_shift_del c.3654 p.K1218fs 0.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 171 0 0 208 60 22.3881 ATP6V1H 0 genome.wustl.edu 37 8 54628547 54628547 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 54628547 54628547 G - DEL ATP6V1H ENST00000359530 human ensembl 74_37 -1 known frame_shift_del c.1429 p.Q477fs 0.992 NULL pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 24 0 0 25 7 21.875 ANGPT2 0 genome.wustl.edu 37 8 6378798 6378798 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 6378798 6378798 T - DEL ANGPT2 ENST00000325203 human ensembl 74_37 -1 known frame_shift_del c.700 p.I234fs 0.004 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 76 0 0 105 26 19.8473 CSPP1 0 genome.wustl.edu 37 8 68076631 68076631 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 68076631 68076631 A - DEL CSPP1 ENST00000262210 human ensembl 74_37 +1 known frame_shift_del c.2701 p.N903fs 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 73 0 0 67 26 27.957 PREX2 0 genome.wustl.edu 37 8 68992721 68992721 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 68992721 68992721 T - DEL PREX2 ENST00000288368 human ensembl 74_37 +1 known frame_shift_del c.1686 p.S565fs 0.015 smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 40 0 0 69 18 20.6897 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 144 1 0.689655 139 41 22.7778 ZFHX4 0 genome.wustl.edu 37 8 77617336 77617337 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 77617336 77617337 - A INS ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_ins c.1013_1014 p.S341fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 100 0 0 103 25 19.5312 ENSG00000253334 0 genome.wustl.edu 37 8 82727641 82727641 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 82727641 82727641 A - DEL ENSG00000253334 ENST00000524337 human ensembl 74_37 +1 known rna NULL NULL 0.496 - - - no_errors RP13-923O23.6 Clone_based_vega_gene ENSG00000253334 33 0 0 25 8 24.2424 SLC26A7 0 genome.wustl.edu 37 8 92352747 92352747 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 92352747 92352747 A - DEL SLC26A7 ENST00000309536 human ensembl 74_37 +1 known frame_shift_del c.994 p.K333fs 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 83 0 0 77 20 20.6186 SLC26A7 0 genome.wustl.edu 37 8 92406218 92406218 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 8 92406218 92406218 T - DEL SLC26A7 ENST00000309536 human ensembl 74_37 +1 known frame_shift_del c.1886 p.F631fs 0.996 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 92 0 0 109 20 15.5039 TEX10 0 genome.wustl.edu 37 9 103066177 103066177 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 103066177 103066177 C - DEL TEX10 ENST00000477648 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TEX10 HGNC ENSG00000136891 8 0 0 9 9 50 ABCA1 0 genome.wustl.edu 37 9 107548581 107548582 + Frame_Shift_Ins INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 107548581 107548582 - T INS ABCA1 ENST00000374736 human ensembl 74_37 -1 known frame_shift_ins c.6399_6398 p.N2133fs 1.000:1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 94 0 0 63 27 30 UGCG 0 genome.wustl.edu 37 9 114695180 114695180 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 114695180 114695180 T - DEL UGCG ENST00000374279 human ensembl 74_37 +1 known frame_shift_del c.1088 p.L365fs 1.000 NULL pfam_Glyco_trans_2 - no_errors UGCG HGNC ENSG00000148154 95 0 0 74 34 31.4815 AKNA 0 genome.wustl.edu 37 9 117121999 117122000 + In_Frame_Ins INS - - TCC TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 117121999 117122000 - TCC INS AKNA ENST00000307564 human ensembl 74_37 -1 known in_frame_ins c.2367_2366 p.791in_frame_insE 0.000:0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 63 0 0 45 6 11.7647 CNTRL 0 genome.wustl.edu 37 9 123914650 123914650 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 123914650 123914650 T - DEL CNTRL ENST00000373845 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CNTRL HGNC ENSG00000119397 14 0 0 9 6 40 CNTRL 0 genome.wustl.edu 37 9 123924525 123924525 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 123924525 123924525 A - DEL CNTRL ENST00000238341 human ensembl 74_37 +1 known frame_shift_del c.5399 p.K1802fs 1.000 superfamily_tRNA-bd_arm pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 60 0 0 49 5 9.25926 RAB14 0 genome.wustl.edu 37 9 123954450 123954450 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 123954450 123954450 T - DEL RAB14 ENST00000373840 human ensembl 74_37 -1 known frame_shift_del c.105 p.K35fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB14 HGNC ENSG00000119396 99 0 0 72 33 31.4286 RABGAP1 0 genome.wustl.edu 37 9 125861042 125861042 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 125861042 125861042 A - DEL RABGAP1 ENST00000373647 human ensembl 74_37 +1 known frame_shift_del c.2782 p.N930fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 92 0 0 47 19 28.7879 SCAI 0 genome.wustl.edu 37 9 127765857 127765857 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 127765857 127765857 A - DEL SCAI ENST00000487795 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors SCAI HGNC ENSG00000173611 58 0 0 48 15 23.8095 FAM129B 0 genome.wustl.edu 37 9 130271374 130271374 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 130271374 130271374 G - DEL FAM129B ENST00000373312 human ensembl 74_37 -1 known frame_shift_del c.1198 p.L400fs 1.000 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 45 0 0 24 8 25 PKN3 0 genome.wustl.edu 37 9 131482673 131482675 + In_Frame_Del DEL ACC ACC - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 131482673 131482675 ACC - DEL PKN3 ENST00000291906 human ensembl 74_37 +1 known in_frame_del c.2458_2460 p.T821in_frame_del 0.777:0.677:0.663 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 264 0 0 156 41 20.8122 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 135158548 135158549 AA - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.003 - - - no_errors SETX HGNC ENSG00000107290 8 0 0 12 10 45.4545 TSC1 0 genome.wustl.edu 37 9 135786444 135786446 + In_Frame_Del DEL AGG AGG - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 135786444 135786446 AGG - DEL TSC1 ENST00000298552 human ensembl 74_37 -1 known in_frame_del c.1086_1084 p.P362in_frame_del 1.000:1.000:1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 112 0 0 60 20 25 GTF3C5 0 genome.wustl.edu 37 9 135929331 135929332 + Splice_Site INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 135929331 135929332 - A INS GTF3C5 ENST00000372108 human ensembl 74_37 +1 known splice_site_ins c.988+2_988+1 e6+2 1.000:0.997 - - - no_errors GTF3C5 HGNC ENSG00000148308 61 0 0 22 17 43.5897 WDR5 0 genome.wustl.edu 37 9 137019597 137019598 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 137019597 137019598 - C INS WDR5 ENST00000358625 human ensembl 74_37 +1 known frame_shift_ins c.641_642 p.V217fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5 HGNC ENSG00000196363 392 0 0 273 80 22.6629 LCN1 0 genome.wustl.edu 37 9 138415728 138415728 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 138415728 138415728 G - DEL LCN1 ENST00000263598 human ensembl 74_37 +1 known frame_shift_del c.295 p.G100fs 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors LCN1 HGNC ENSG00000160349 53 0 0 29 12 29.2683 ABCA2 0 genome.wustl.edu 37 9 139918658 139918658 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 139918658 139918658 G - DEL ABCA2 ENST00000265662 human ensembl 74_37 -1 known frame_shift_del c.97 p.L33fs 0.632 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 29 0 0 23 4 14.8148 MIR602 0 genome.wustl.edu 37 9 140732961 140732961 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 140732961 140732961 C - DEL MIR602 ENST00000384960 human ensembl 74_37 +1 known rna NULL NULL 0.093 - - - no_errors MIR602 HGNC ENSG00000207693 83 0 0 65 32 32.9897 TAF1L 0 genome.wustl.edu 37 9 32633025 32633025 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 32633025 32633025 T - DEL TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_del c.2553 p.A852fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 166 0 0 134 54 28.7234 KIF24 0 genome.wustl.edu 37 9 34257623 34257623 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 34257623 34257623 T - DEL KIF24 ENST00000379166 human ensembl 74_37 -1 known frame_shift_del c.1982 p.K661fs 0.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 84 0 0 33 39 54.1667 FAM219A 0 genome.wustl.edu 37 9 34401682 34401684 + In_Frame_Del DEL GGA GGA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 34401682 34401684 GGA - DEL FAM219A ENST00000445726 human ensembl 74_37 -1 known in_frame_del c.381_379 p.S127in_frame_del 0.992:1.000:1.000 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 18 0 0 24 4 14.2857 ARID3C 0 genome.wustl.edu 37 9 34625737 34625738 + Splice_Site INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 34625737 34625738 - C INS ARID3C ENST00000378909 human ensembl 74_37 -1 known splice_site_ins c.391+1_391+1 e2+1 1.000:1.000 - - - no_errors ARID3C HGNC ENSG00000205143 81 0 0 64 28 30.4348 FAM214B 0 genome.wustl.edu 37 9 35107840 35107840 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 35107840 35107840 G - DEL FAM214B ENST00000322813 human ensembl 74_37 -1 known frame_shift_del c.432 p.C145fs 0.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 100 0 0 60 29 32.5843 SPATA31A6 0 genome.wustl.edu 37 9 43626885 43626885 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 43626885 43626885 T - DEL SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known frame_shift_del c.1802 p.K601fs 0.002 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 150 0 0 119 17 12.5 PLGRKT 0 genome.wustl.edu 37 9 5361173 5361173 + Frame_Shift_Del DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 5361173 5361173 T - DEL PLGRKT ENST00000223864 human ensembl 74_37 -1 known frame_shift_del c.227 p.K76fs 1.000 pfam_DUF2368 pfam_DUF2368 - no_errors PLGRKT HGNC ENSG00000107020 84 0 0 35 18 33.9623 TRPM6 0 genome.wustl.edu 37 9 77377518 77377518 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 77377518 77377518 A - DEL TRPM6 ENST00000451710 human ensembl 74_37 -1 known frame_shift_del c.4069 p.S1357fs 0.005 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 154 0 0 136 60 30.6122 DAPK1 0 genome.wustl.edu 37 9 90321802 90321802 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 90321802 90321802 G - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.3891 p.Y1300fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 78 0 0 42 19 31.1475 IARS 0 genome.wustl.edu 37 9 95003101 95003101 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 95003101 95003101 A - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors IARS HGNC ENSG00000196305 15 0 0 9 11 55 FGD3 0 genome.wustl.edu 37 9 95738954 95738954 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 95738954 95738954 C - DEL FGD3 ENST00000337352 human ensembl 74_37 +1 known frame_shift_del c.416 p.Q141fs 0.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 29 0 0 17 10 37.037 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 30 0 0 16 5 23.8095 BHLHB9 0 genome.wustl.edu 37 X 102003967 102003967 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 102003967 102003967 A - DEL BHLHB9 ENST00000361229 human ensembl 74_37 +1 known frame_shift_del c.44 p.K17fs 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 108 1 0.917431 65 34 34.3434 FRMPD3 0 genome.wustl.edu 37 X 106845186 106845186 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 106845186 106845186 G - DEL FRMPD3 ENST00000276185 human ensembl 74_37 +1 known frame_shift_del c.4016 p.G1341fs 0.985 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 50 0 0 21 16 43.2432 TEX13B 0 genome.wustl.edu 37 X 107224317 107224317 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 107224317 107224317 C - DEL TEX13B ENST00000302917 human ensembl 74_37 -1 known frame_shift_del c.932 p.G311fs 0.000 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 119 0 0 108 52 32.5 ATG4A 0 genome.wustl.edu 37 X 107395166 107395166 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 107395166 107395166 A - DEL ATG4A ENST00000474825 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ATG4A HGNC ENSG00000101844 33 0 0 28 4 12.5 ALG13 0 genome.wustl.edu 37 X 110970903 110970904 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 110970903 110970904 - C INS ALG13 ENST00000251943 human ensembl 74_37 +1 known frame_shift_ins c.1840_1841 p.G616fs 0.410:0.091 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 40 0 0 33 15 31.25 SLC6A14 0 genome.wustl.edu 37 X 115582694 115582694 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 115582694 115582694 A - DEL SLC6A14 ENST00000371900 human ensembl 74_37 +1 known frame_shift_del c.1018 p.N341fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 170 0 0 114 60 34.4828 PGRMC1 0 genome.wustl.edu 37 X 118370513 118370513 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 118370513 118370513 C - DEL PGRMC1 ENST00000217971 human ensembl 74_37 +1 known frame_shift_del c.187 p.P64fs 1.000 superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors PGRMC1 HGNC ENSG00000101856 38 0 0 50 14 21.875 CUL4B 0 genome.wustl.edu 37 X 119680444 119680445 + Frame_Shift_Ins INS - - A TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 119680444 119680445 - A INS CUL4B ENST00000404115 human ensembl 74_37 -1 known frame_shift_ins c.858_857 p.L286fs 0.999:1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 44 0 0 42 10 19.2308 STAG2 0 genome.wustl.edu 37 X 123176474 123176475 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 123176474 123176475 - G INS STAG2 ENST00000218089 human ensembl 74_37 +1 known frame_shift_ins c.441_442 p.M147fs 1.000:1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 50 0 0 51 26 33.7662 BCORL1 0 genome.wustl.edu 37 X 129190011 129190011 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 129190011 129190011 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.5258 p.P1755fs 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 94 0 0 60 36 37.5 MAP7D3 0 genome.wustl.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 135314194 135314194 G - DEL MAP7D3 ENST00000370663 human ensembl 74_37 -1 known frame_shift_del c.868 p.Q290fs 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 338 1 0.294985 121 180 59.8007 ASB11 0 genome.wustl.edu 37 X 15333633 15333633 + Frame_Shift_Del DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 15333633 15333633 A - DEL ASB11 ENST00000480796 human ensembl 74_37 -1 known frame_shift_del c.95 p.L32fs 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB11 HGNC ENSG00000165192 95 0 0 75 47 38.5246 ACE2 0 genome.wustl.edu 37 X 15619088 15619090 + RNA DEL CCT CCT - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 15619088 15619090 CCT - DEL ACE2 ENST00000484756 human ensembl 74_37 -1 known rna NULL NULL 0.007:0.080:0.080 - - - no_errors ACE2 HGNC ENSG00000130234 25 0 0 19 8 29.6296 TXLNG 0 genome.wustl.edu 37 X 16850848 16850849 + Frame_Shift_Ins INS - - AG TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 16850848 16850849 - AG INS TXLNG ENST00000380122 human ensembl 74_37 +1 known frame_shift_ins c.967_968 p.R327fs 1.000:1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 77 0 0 55 24 30.3797 RAI2 0 genome.wustl.edu 37 X 17818678 17818678 + Frame_Shift_Del DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 17818678 17818678 C - DEL RAI2 ENST00000331511 human ensembl 74_37 -1 known frame_shift_del c.1453 p.E485fs 1.000 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 502 1 0.198807 293 148 33.5601 DMD 0 genome.wustl.edu 37 X 33229458 33229458 + RNA DEL A A - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 33229458 33229458 A - DEL DMD ENST00000463609 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors DMD HGNC ENSG00000198947 28 0 0 23 7 23.3333 GPKOW 0 genome.wustl.edu 37 X 48972303 48972304 + Frame_Shift_Ins INS - - C TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 48972303 48972304 - C INS GPKOW ENST00000156109 human ensembl 74_37 -1 known frame_shift_ins c.1082_1081 p.D361fs 1.000:1.000 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 68 0 0 29 19 39.5833 AKAP4 0 genome.wustl.edu 37 X 49955569 49955569 + RNA DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 49955569 49955569 G - DEL AKAP4 ENST00000481402 human ensembl 74_37 -1 known rna NULL NULL 0.755 - - - no_errors AKAP4 HGNC ENSG00000147081 56 0 0 45 15 25 DGKK 0 genome.wustl.edu 37 X 50111889 50111890 + RNA INS - - T TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 50111889 50111890 - T INS DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.918:0.486 - - - no_errors DGKK HGNC ENSG00000204466 24 0 0 11 8 42.1053 FGD1 0 genome.wustl.edu 37 X 54472561 54472562 + Frame_Shift_Ins INS - - G TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 54472561 54472562 - G INS FGD1 ENST00000375135 human ensembl 74_37 -1 known frame_shift_ins c.2867_2866 p.Q956fs 0.925:0.938 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 36 0 0 32 9 21.9512 ARHGEF9 0 genome.wustl.edu 37 X 62974289 62974289 + RNA DEL T T - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 62974289 62974289 T - DEL ARHGEF9 ENST00000495564 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ARHGEF9 HGNC ENSG00000131089 28 0 0 15 11 42.3077 HMGN5 0 genome.wustl.edu 37 X 80377176 80377177 + RNA DEL AA AA - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 80377176 80377177 AA - DEL HMGN5 ENST00000491275 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HMGN5 HGNC ENSG00000198157 8 0 0 6 2 25 DACH2 0 genome.wustl.edu 37 X 85403681 85403681 + Frame_Shift_Del DEL G G - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a X 85403681 85403681 G - DEL DACH2 ENST00000373125 human ensembl 74_37 +1 known frame_shift_del c.57 p.G21fs 0.001 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 26 0 0 15 3 16.6667 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-BR-A4QL-01A-31D-A25D-08 TCGA-BR-A4QL-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4185ac3-7bc5-4881-a6fc-c72a990ce069 99b2d1f8-974a-4bcf-ad2d-84d93081945a Y 10037863 10037863 C - DEL RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 28 0 0 23 5 17.8571