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 NMNAT1 0 genome.wustl.edu 37 1 10042553 10042553 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 10042553 10042553 G A SNP NMNAT1 ENST00000377205 human ensembl 74_37 +1 known missense c.634 p.V212M 1.000 pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT1 HGNC ENSG00000173614 98 0 0 92 44 32.3529 CASZ1 0 genome.wustl.edu 37 1 10706296 10706296 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 10706296 10706296 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.3585 p.T1195 0.996 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 60 0 0 48 20 29.4118 KCNA2 0 genome.wustl.edu 37 1 111146149 111146149 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 111146149 111146149 C T SNP KCNA2 ENST00000316361 human ensembl 74_37 -1 known missense c.1256 p.R419Q 1.000 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_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC ENSG00000177301 87 0 0 69 34 33.0097 MTOR 0 genome.wustl.edu 37 1 11168277 11168277 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 11168277 11168277 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.7595 p.A2532V 1.000 pfam_FATC,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 80 0 0 77 32 29.3578 WNT2B 0 genome.wustl.edu 37 1 113033683 113033683 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 113033683 113033683 G A SNP WNT2B ENST00000369686 human ensembl 74_37 +1 known silent c.105 p.A35 0.001 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 21 0 0 24 9 27.2727 WNT2B 0 genome.wustl.edu 37 1 113051942 113051942 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 113051942 113051942 G A SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.58 p.A20T 0.998 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 12 0 0 6 3 33.3333 SLC22A15 0 genome.wustl.edu 37 1 116609275 116609275 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 116609275 116609275 G A SNP SLC22A15 ENST00000369503 human ensembl 74_37 +1 known silent c.1500 p.S500 0.434 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC ENSG00000163393 21 0 0 24 7 22.5806 IGSF3 0 genome.wustl.edu 37 1 117146451 117146451 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 117146451 117146451 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.1479 p.S493 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 60 0 0 37 26 41.2698 TRIM45 0 genome.wustl.edu 37 1 117661189 117661189 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 117661189 117661189 A G SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known missense c.689 p.V230A 0.422 NULL pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 70 0 0 54 9 14.2857 SPAG17 0 genome.wustl.edu 37 1 118634309 118634309 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 118634309 118634309 T C SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.1279 p.R427G 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 30 0 0 37 13 26 SPAG17 0 genome.wustl.edu 37 1 118642346 118642346 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 118642346 118642346 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.712 p.A238T 0.997 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 84 0 0 72 43 37.3913 ADAM30 0 genome.wustl.edu 37 1 120437609 120437609 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 120437609 120437609 G A SNP ADAM30 ENST00000369400 human ensembl 74_37 -1 known missense c.1351 p.R451C 0.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 130 0 0 130 44 25.2874 PPIAL4G 0 genome.wustl.edu 37 1 143767446 143767446 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 143767446 143767446 G A SNP PPIAL4G ENST00000419275 human ensembl 74_37 -1 known missense c.403 p.R135C 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4G HGNC ENSG00000236334 187 0 0 258 20 7.19424 POLR3C 0 genome.wustl.edu 37 1 145608566 145608566 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 145608566 145608566 G A SNP POLR3C ENST00000334163 human ensembl 74_37 -1 known missense c.241 p.R81W 0.984 NULL pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 92 0 0 120 42 25.9259 SV2A 0 genome.wustl.edu 37 1 149882147 149882147 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 149882147 149882147 G T SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.1064 p.P355H 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 28 0 0 32 2 5.88235 PLEKHO1 0 genome.wustl.edu 37 1 150123100 150123100 + Splice_Site SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 150123100 150123100 A G SNP PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known splice_site c.31-2 e2-2 1.000 - - - no_errors PLEKHO1 HGNC ENSG00000023902 67 0 0 86 5 5.49451 VPS72 0 genome.wustl.edu 37 1 151149142 151149142 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 151149142 151149142 C T SNP VPS72 ENST00000368892 human ensembl 74_37 -1 known missense c.1073 p.R358H 0.996 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 108 0 0 85 79 48.1707 ZNF687 0 genome.wustl.edu 37 1 151261166 151261166 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 151261166 151261166 C T SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known missense c.2278 p.R760C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 87 0 0 59 76 56.2963 HRNR 0 genome.wustl.edu 37 1 152191472 152191472 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 152191472 152191472 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.2633 p.S878L 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 113 0 0 105 32 23.3577 FLG 0 genome.wustl.edu 37 1 152275642 152275642 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 152275642 152275642 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11720 p.R3907H 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 76 0 0 103 37 26.4286 FLG 0 genome.wustl.edu 37 1 152283084 152283084 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 152283084 152283084 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.4278 p.S1426 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 266 0 0 195 179 47.861 FLG 0 genome.wustl.edu 37 1 152284999 152284999 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 152284999 152284999 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.2363 p.R788Q 0.000 prints_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 384 0 0 344 153 30.7847 LCE2C 0 genome.wustl.edu 37 1 152648744 152648744 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 152648744 152648744 C T SNP LCE2C ENST00000368783 human ensembl 74_37 +1 known missense c.253 p.R85W 0.000 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 49 0 0 27 36 57.1429 UBAP2L 0 genome.wustl.edu 37 1 154229634 154229634 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 154229634 154229634 T A SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known missense c.2253 p.S751R 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 83 0 0 95 6 5.94059 KAZN 0 genome.wustl.edu 37 1 15428216 15428216 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 15428216 15428216 G T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.1725 p.Q575H 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 19 0 0 17 12 41.3793 ADAR 0 genome.wustl.edu 37 1 154557387 154557387 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 154557387 154557387 G A SNP ADAR ENST00000292205 human ensembl 74_37 -1 known silent c.3705 p.Y1235 0.979 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 84 0 0 46 72 61.0169 HCN3 0 genome.wustl.edu 37 1 155252423 155252423 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 155252423 155252423 G A SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.500 p.R167H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 52 0 0 35 21 37.5 LMNA 0 genome.wustl.edu 37 1 156108451 156108451 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 156108451 156108451 G A SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.1871 p.R624H 0.998 NULL pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 26 0 0 13 11 45.8333 CCT3 0 genome.wustl.edu 37 1 156303398 156303398 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 156303398 156303398 C T SNP CCT3 ENST00000295688 human ensembl 74_37 -1 known missense c.244 p.E82K 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 100 0 0 113 35 23.6486 PEAR1 0 genome.wustl.edu 37 1 156883740 156883740 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 156883740 156883740 G C SNP PEAR1 ENST00000292357 human ensembl 74_37 +1 known missense c.2810 p.G937A 0.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 24 0 0 23 11 32.3529 OR10T2 0 genome.wustl.edu 37 1 158368816 158368816 + Silent SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 158368816 158368816 A C SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known silent c.441 p.S147 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 106 0 0 73 81 52.5974 SLAMF8 0 genome.wustl.edu 37 1 159799702 159799702 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 159799702 159799702 C T SNP SLAMF8 ENST00000289707 human ensembl 74_37 +1 known silent c.87 p.V29 0.482 NULL pfscan_Ig-like_dom - no_errors SLAMF8 HGNC ENSG00000158714 124 1 0.8 130 17 11.5646 RSC1A1 0 genome.wustl.edu 37 1 15987413 15987413 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 15987413 15987413 G A SNP RSC1A1 ENST00000345034 human ensembl 74_37 +1 known silent c.1050 p.P350 0.994 NULL superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 50 0 0 46 16 25.8065 RPL31P11 0 genome.wustl.edu 37 1 161654742 161654742 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 161654742 161654742 C T SNP RPL31P11 ENST00000426558 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL31P11 HGNC ENSG00000213075 35 0 0 30 26 46.4286 HSD17B7 0 genome.wustl.edu 37 1 162762614 162762614 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 162762614 162762614 G A SNP HSD17B7 ENST00000254521 human ensembl 74_37 +1 known silent c.201 p.L67 0.257 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC ENSG00000132196 48 0 0 41 46 52.8736 PBX1 0 genome.wustl.edu 37 1 164815933 164815933 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 164815933 164815933 C T SNP PBX1 ENST00000468104 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PBX1 HGNC ENSG00000185630 55 0 0 73 22 23.1579 ARHGEF19 0 genome.wustl.edu 37 1 16525645 16525645 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 16525645 16525645 C T SNP ARHGEF19 ENST00000270747 human ensembl 74_37 -1 known missense c.2251 p.G751S 0.999 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_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 ARHGEF19 HGNC ENSG00000142632 52 0 0 33 18 35.2941 NECAP2 0 genome.wustl.edu 37 1 16785456 16785456 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 16785456 16785456 G A SNP NECAP2 ENST00000443980 human ensembl 74_37 +1 known missense c.787 p.E263K 0.000 NULL pfam_NECAP-1 - no_errors NECAP2 HGNC ENSG00000157191 11 0 0 10 7 41.1765 ATP1B1 0 genome.wustl.edu 37 1 169100579 169100579 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 169100579 169100579 G A SNP ATP1B1 ENST00000367815 human ensembl 74_37 +1 known missense c.698 p.G233D 0.976 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B1 HGNC ENSG00000143153 124 0 0 220 17 7.173 RC3H1 0 genome.wustl.edu 37 1 173912741 173912741 + Silent SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 173912741 173912741 T G SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known silent c.2974 p.R992 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 54 0 0 33 23 41.0714 RC3H1 0 genome.wustl.edu 37 1 173953746 173953746 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 173953746 173953746 C T SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known silent c.243 p.Q81 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 36 0 0 49 21 30 PADI2 0 genome.wustl.edu 37 1 17431556 17431556 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 17431556 17431556 G A SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known silent c.93 p.S31 0.242 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 24 0 0 7 8 53.3333 XPR1 0 genome.wustl.edu 37 1 180775653 180775653 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 180775653 180775653 C A SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.641 p.A214D 1.000 NULL pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 75 0 0 49 20 28.9855 ZNF648 0 genome.wustl.edu 37 1 182026636 182026636 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 182026636 182026636 A G SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel silent c.510 p.N170 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 46 0 0 24 15 38.4615 C1orf21 0 genome.wustl.edu 37 1 184446659 184446659 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 184446659 184446659 G A SNP C1orf21 ENST00000235307 human ensembl 74_37 +1 known missense c.16 p.A6T 1.000 NULL NULL - no_errors C1orf21 HGNC ENSG00000116667 52 0 0 36 26 41.9355 TPR 0 genome.wustl.edu 37 1 186313658 186313658 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 186313658 186313658 T C SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.3266 p.H1089R 1.000 pfam_TPR_MLP1_2 pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 98 0 0 109 14 11.3821 PTGS2 0 genome.wustl.edu 37 1 186645044 186645044 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 186645044 186645044 G A SNP PTGS2 ENST00000367468 human ensembl 74_37 -1 known nonsense c.1243 p.Q415* 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 45 0 0 47 18 27.6923 PAX7 0 genome.wustl.edu 37 1 19062344 19062344 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 19062344 19062344 C T SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known silent c.1374 p.A458 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 60 0 0 25 16 39.0244 RGS2 0 genome.wustl.edu 37 1 192780201 192780201 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 192780201 192780201 C A SNP RGS2 ENST00000235382 human ensembl 74_37 +1 known missense c.365 p.T122N 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_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,prints_RGS_dom - no_errors RGS2 HGNC ENSG00000116741 210 1 0.473934 159 66 29.3333 B3GALT2 0 genome.wustl.edu 37 1 193149443 193149443 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 193149443 193149443 C T SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known missense c.1250 p.R417H 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 75 0 0 82 26 24.0741 F13B 0 genome.wustl.edu 37 1 197031010 197031010 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 197031010 197031010 C T SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.355 p.A119T 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 32 0 0 36 26 41.9355 KIF21B 0 genome.wustl.edu 37 1 200974489 200974489 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 200974489 200974489 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.679 p.A227T 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 57 0 0 36 17 32.0755 PKP1 0 genome.wustl.edu 37 1 201289420 201289420 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 201289420 201289420 C T SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known missense c.1321 p.R441C 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 46 0 0 34 12 26.087 ADORA1 0 genome.wustl.edu 37 1 203098074 203098074 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 203098074 203098074 G T SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known missense c.105 p.K35N 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 104 0 0 81 34 29.5652 LAMB3 0 genome.wustl.edu 37 1 209811925 209811925 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 209811925 209811925 A G SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known silent c.252 p.N84 0.379 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 40 0 0 39 24 38.0952 SERTAD4 0 genome.wustl.edu 37 1 210415509 210415509 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 210415509 210415509 G A SNP SERTAD4 ENST00000367012 human ensembl 74_37 +1 known missense c.898 p.E300K 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 68 0 0 59 26 30.5882 GPATCH2 0 genome.wustl.edu 37 1 217793680 217793680 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 217793680 217793680 C T SNP GPATCH2 ENST00000366935 human ensembl 74_37 -1 known missense c.218 p.R73Q 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 100 0 0 93 6 6.06061 RAB3GAP2 0 genome.wustl.edu 37 1 220369638 220369638 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 220369638 220369638 A G SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.914 p.I305T 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 119 0 0 103 43 29.4521 HSPG2 0 genome.wustl.edu 37 1 22181934 22181934 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 22181934 22181934 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.5860 p.G1954S 0.039 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 15 0 0 17 6 26.087 LBR 0 genome.wustl.edu 37 1 225594521 225594521 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 225594521 225594521 G A SNP LBR ENST00000272163 human ensembl 74_37 -1 known missense c.1328 p.T443M 0.999 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 44 0 0 42 8 16 RAB4A 0 genome.wustl.edu 37 1 229422273 229422273 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 229422273 229422273 T C SNP RAB4A ENST00000366690 human ensembl 74_37 +1 known silent c.72 p.T24 0.999 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_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_EF_GTP-bd_dom,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 RAB4A HGNC ENSG00000168118 13 0 0 16 10 38.4615 ABCB10 0 genome.wustl.edu 37 1 229667403 229667403 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 229667403 229667403 T G SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.1415 p.E472A 0.994 superfamily_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 ABCB10 HGNC ENSG00000135776 117 0 0 74 29 28.1553 URB2 0 genome.wustl.edu 37 1 229772399 229772399 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 229772399 229772399 A C SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.2039 p.Q680P 1.000 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 238 0 0 187 104 35.7388 MORN1 0 genome.wustl.edu 37 1 2303936 2303936 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 2303936 2303936 G A SNP MORN1 ENST00000378531 human ensembl 74_37 -1 known silent c.729 p.H243 0.000 NULL pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 39 0 0 27 9 25 FAM89A 0 genome.wustl.edu 37 1 231155559 231155559 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 231155559 231155559 C T SNP FAM89A ENST00000466258 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM89A HGNC ENSG00000182118 19 0 0 19 8 29.6296 EPHB2 0 genome.wustl.edu 37 1 23208938 23208938 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 23208938 23208938 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.1390 p.G464S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 83 0 0 68 42 38.1818 SIPA1L2 0 genome.wustl.edu 37 1 232574902 232574902 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 232574902 232574902 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.3983 p.A1328V 0.009 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 39 0 0 24 8 25 NID1 0 genome.wustl.edu 37 1 236142400 236142400 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 236142400 236142400 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.3517 p.V1173M 0.994 smart_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 42 0 0 29 9 23.6842 NID1 0 genome.wustl.edu 37 1 236154336 236154336 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 236154336 236154336 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known silent c.2778 p.P926 0.000 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 22 0 0 16 9 36 ASAP3 0 genome.wustl.edu 37 1 23760793 23760793 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 23760793 23760793 G T SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known silent c.1905 p.P635 0.977 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,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 ASAP3 HGNC ENSG00000088280 87 0 0 59 33 35.8696 ZP4 0 genome.wustl.edu 37 1 238048857 238048857 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 238048857 238048857 C T SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.994 p.G332S 0.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 63 0 0 47 25 34.7222 KIF26B 0 genome.wustl.edu 37 1 245849621 245849621 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 245849621 245849621 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.3336 p.G1112 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 90 0 0 61 34 35.7895 OR2T8 0 genome.wustl.edu 37 1 248084867 248084867 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 248084867 248084867 T C SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.548 p.V183A 0.000 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 37 0 0 50 9 15.2542 OR14I1 0 genome.wustl.edu 37 1 248845531 248845531 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 248845531 248845531 G A SNP OR14I1 ENST00000342623 human ensembl 74_37 -1 known silent c.75 p.H25 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 62 0 0 47 25 34.7222 ZNF692 0 genome.wustl.edu 37 1 249149812 249149812 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 249149812 249149812 C T SNP ZNF692 ENST00000451251 human ensembl 74_37 -1 known missense c.919 p.A307T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 36 0 0 25 12 32.4324 EXTL1 0 genome.wustl.edu 37 1 26357744 26357744 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 26357744 26357744 A G SNP EXTL1 ENST00000374280 human ensembl 74_37 +1 known missense c.1223 p.Y408C 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 38 0 0 31 18 36.7347 ARID1A 0 genome.wustl.edu 37 1 27106862 27106862 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 27106862 27106862 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6473 p.R2158Q 1.000 pfam_DUF3518,superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 83 0 0 62 28 31.1111 MATN1 0 genome.wustl.edu 37 1 31194535 31194535 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 31194535 31194535 C T SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.158 p.R53Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 80 0 0 74 38 33.9286 PUM1 0 genome.wustl.edu 37 1 31452917 31452917 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 31452917 31452917 G A SNP PUM1 ENST00000426105 human ensembl 74_37 -1 known missense c.1346 p.A449V 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 21 0 0 11 8 42.1053 IQCC 0 genome.wustl.edu 37 1 32672879 32672879 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 32672879 32672879 G A SNP IQCC ENST00000537469 human ensembl 74_37 +1 known silent c.837 p.A279 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 96 0 0 72 50 40.9836 ARHGEF16 0 genome.wustl.edu 37 1 3395142 3395142 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 3395142 3395142 C T SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known missense c.1780 p.R594C 0.986 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 30 0 0 23 13 36.1111 MEGF6 0 genome.wustl.edu 37 1 3431982 3431982 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 3431982 3431982 G A SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.714 p.D238 0.891 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom 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 7 6 46.1538 GJA4 0 genome.wustl.edu 37 1 35260514 35260514 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 35260514 35260514 C T SNP GJA4 ENST00000342280 human ensembl 74_37 +1 known missense c.700 p.R234C 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 34 0 0 25 17 40.4762 NCDN 0 genome.wustl.edu 37 1 36026733 36026733 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 36026733 36026733 G A SNP NCDN ENST00000356090 human ensembl 74_37 +1 known silent c.981 p.T327 0.001 NULL NULL - no_errors NCDN HGNC ENSG00000020129 12 0 0 11 7 38.8889 THRAP3 0 genome.wustl.edu 37 1 36757051 36757051 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 36757051 36757051 C T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.1822 p.R608C 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 59 0 0 45 26 36.6197 CEP104 0 genome.wustl.edu 37 1 3765295 3765295 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 3765295 3765295 C T SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known missense c.164 p.R55Q 1.000 superfamily_Galactose-bd-like superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 55 0 0 45 21 31.8182 DFFB 0 genome.wustl.edu 37 1 3789133 3789133 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 3789133 3789133 A G SNP DFFB ENST00000378209 human ensembl 74_37 +1 known missense c.779 p.H260R 1.000 pfam_Apoptosis_DFF40 pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors DFFB HGNC ENSG00000169598 63 0 0 38 13 25.4902 MTF1 0 genome.wustl.edu 37 1 38288328 38288328 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 38288328 38288328 G A SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known missense c.1232 p.T411I 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 78 0 0 63 11 14.8649 MTF1 0 genome.wustl.edu 37 1 38305655 38305655 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 38305655 38305655 G A SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known missense c.584 p.T195M 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 69 0 0 51 28 35.443 KIAA0754 0 genome.wustl.edu 37 1 39879412 39879412 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 39879412 39879412 G A SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known missense c.3067 p.A1023T 0.020 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 23 0 0 17 11 39.2857 NT5C1A 0 genome.wustl.edu 37 1 40131856 40131856 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 40131856 40131856 C T SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.188 p.R63H 1.000 NULL pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 66 0 0 67 5 6.94444 MIR30E 0 genome.wustl.edu 37 1 41220094 41220094 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 41220094 41220094 G A SNP MIR30E ENST00000362104 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR30E HGNC ENSG00000198974 42 0 0 32 19 37.2549 KCNQ4 0 genome.wustl.edu 37 1 41304235 41304235 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 41304235 41304235 C T SNP KCNQ4 ENST00000506017 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors KCNQ4 HGNC ENSG00000117013 18 0 0 14 13 48.1481 FOXJ3 0 genome.wustl.edu 37 1 42776750 42776750 + Silent SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 42776750 42776750 T A SNP FOXJ3 ENST00000361346 human ensembl 74_37 -1 known silent c.15 p.G5 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 35 0 0 37 14 27.451 SZT2 0 genome.wustl.edu 37 1 43886645 43886645 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 43886645 43886645 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.1487 p.T496M 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 105 0 0 72 34 32.0755 PTPRF 0 genome.wustl.edu 37 1 44069662 44069662 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 44069662 44069662 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.2839 p.R947C 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 60 0 0 31 18 36.7347 C1orf228 0 genome.wustl.edu 37 1 45155395 45155395 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 45155395 45155395 C T SNP C1orf228 ENST00000458657 human ensembl 74_37 +1 known missense c.26 p.A9V 1.000 NULL superfamily_ARM-type_fold - no_errors C1orf228 HGNC ENSG00000198520 11 0 0 6 6 50 TOE1 0 genome.wustl.edu 37 1 45809251 45809251 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 45809251 45809251 T C SNP TOE1 ENST00000372090 human ensembl 74_37 +1 known silent c.1410 p.P470 0.990 NULL pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom - no_errors TOE1 HGNC ENSG00000132773 60 0 0 45 20 30.7692 TESK2 0 genome.wustl.edu 37 1 45813598 45813598 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 45813598 45813598 G A SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known silent c.615 p.P205 0.973 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 81 0 0 40 19 32.2034 CCDC17 0 genome.wustl.edu 37 1 46088681 46088681 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 46088681 46088681 C T SNP CCDC17 ENST00000343901 human ensembl 74_37 -1 known missense c.506 p.R169Q 0.000 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 18 0 0 12 4 25 GLIS1 0 genome.wustl.edu 37 1 54059810 54059810 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 54059810 54059810 G A SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.766 p.H256Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 27 0 0 20 7 25.9259 CHD5 0 genome.wustl.edu 37 1 6169955 6169955 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 6169955 6169955 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known silent c.5478 p.N1826 0.994 pfam_CHD_C2 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_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 53 0 0 40 16 28.5714 INADL 0 genome.wustl.edu 37 1 62503676 62503676 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 62503676 62503676 C T SNP INADL ENST00000371158 human ensembl 74_37 +1 known silent c.3987 p.A1329 0.413 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 78 0 0 79 29 26.8519 MIER1 0 genome.wustl.edu 37 1 67450349 67450349 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 67450349 67450349 A C SNP MIER1 ENST00000401041 human ensembl 74_37 +1 known missense c.1464 p.K488N 0.811 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 89 0 0 94 25 21.0084 SERBP1 0 genome.wustl.edu 37 1 67880887 67880887 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 67880887 67880887 G A SNP SERBP1 ENST00000370995 human ensembl 74_37 -1 known missense c.1132 p.R378C 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 57 0 0 37 17 31.4815 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74957869 74957869 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 74957869 74957869 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2612 p.R871Q 1.000 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 125 0 0 108 52 32.5 C1orf173 0 genome.wustl.edu 37 1 75037295 75037295 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 75037295 75037295 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.4099 p.E1367K 0.647 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 102 0 0 69 41 37.2727 CAMTA1 0 genome.wustl.edu 37 1 7721916 7721916 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 7721916 7721916 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.795 p.T265 0.977 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,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 17 0 0 5 7 58.3333 FUBP1 0 genome.wustl.edu 37 1 78422353 78422353 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 78422353 78422353 A G SNP FUBP1 ENST00000436586 human ensembl 74_37 -1 known missense c.1672 p.W558R 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 57 0 0 48 13 21.3115 PTGFR 0 genome.wustl.edu 37 1 78959195 78959195 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 78959195 78959195 G A SNP PTGFR ENST00000370757 human ensembl 74_37 +1 known missense c.767 p.C256Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn - no_errors PTGFR HGNC ENSG00000122420 51 0 0 46 12 20.6897 SLC45A1 0 genome.wustl.edu 37 1 8384692 8384692 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 8384692 8384692 C T SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known silent c.405 p.Y135 0.995 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 14 0 0 9 5 35.7143 RERE 0 genome.wustl.edu 37 1 8420774 8420774 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 8420774 8420774 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known silent c.2793 p.P931 0.321 pfam_Atrophin-like pfam_Atrophin-like,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 RERE HGNC ENSG00000142599 11 0 0 13 4 23.5294 PKN2 0 genome.wustl.edu 37 1 89206691 89206691 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 89206691 89206691 G A SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known silent c.69 p.P23 0.997 superfamily_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 72 0 0 57 32 35.9551 CA6 0 genome.wustl.edu 37 1 9017324 9017324 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 9017324 9017324 G A SNP CA6 ENST00000377443 human ensembl 74_37 +1 known missense c.388 p.G130R 0.897 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 44 0 0 30 18 37.5 HFM1 0 genome.wustl.edu 37 1 91844741 91844741 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 91844741 91844741 C T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.1037 p.R346H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 41 0 0 27 17 38.6364 KIAA1107 0 genome.wustl.edu 37 1 92649446 92649446 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 92649446 92649446 G A SNP KIAA1107 ENST00000409154 human ensembl 74_37 +1 known silent c.3789 p.L1263 1.000 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 24 0 0 12 6 33.3333 EVI5 0 genome.wustl.edu 37 1 93029202 93029202 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 93029202 93029202 A G SNP EVI5 ENST00000543509 human ensembl 74_37 -1 known silent c.2148 p.H716 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 88 0 0 77 38 33.0435 TMEM201 0 genome.wustl.edu 37 1 9656943 9656943 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 9656943 9656943 C T SNP TMEM201 ENST00000340381 human ensembl 74_37 +1 known silent c.261 p.P87 0.021 pfam_Ima1_N pfam_DUF2448,pfam_Ima1_N - no_errors TMEM201 HGNC ENSG00000188807 51 0 0 27 17 38.6364 CNNM1 0 genome.wustl.edu 37 10 101090324 101090324 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 101090324 101090324 C T SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known missense c.1180 p.R394W 1.000 pfam_DUF21 pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 19 0 0 9 4 30.7692 LBX1 0 genome.wustl.edu 37 10 102987489 102987489 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 102987489 102987489 C T SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known silent c.384 p.S128 0.346 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 45 0 0 39 14 26.4151 POLL 0 genome.wustl.edu 37 10 103340084 103340084 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 103340084 103340084 G A SNP POLL ENST00000299206 human ensembl 74_37 -1 known silent c.1284 p.V428 0.706 smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X_beta-like,prints_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLL HGNC ENSG00000166169 94 0 0 66 27 29.0323 CNNM2 0 genome.wustl.edu 37 10 104679333 104679333 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 104679333 104679333 C T SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.1096 p.R366W 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 87 0 0 53 26 32.9114 SH3PXD2A 0 genome.wustl.edu 37 10 105361883 105361883 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 105361883 105361883 C T SNP SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known missense c.3092 p.R1031H 0.973 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 63 0 0 40 24 37.5 COL17A1 0 genome.wustl.edu 37 10 105824282 105824282 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 105824282 105824282 G A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.680 p.A227V 0.504 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 21 0 0 15 7 31.8182 ATRNL1 0 genome.wustl.edu 37 10 117045787 117045787 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 117045787 117045787 T A SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.2295 p.S765R 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 43 0 0 48 4 7.69231 UPF2 0 genome.wustl.edu 37 10 11990443 11990443 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 11990443 11990443 T A SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.3099 p.E1033D 0.998 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 32 0 0 15 29 65.9091 INPP5F 0 genome.wustl.edu 37 10 121557041 121557041 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 121557041 121557041 T G SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.937 p.L313V 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 26 0 0 15 9 37.5 FGFR2 0 genome.wustl.edu 37 10 123325038 123325038 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 123325038 123325038 G A SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.290 p.A97V 1.000 pirsf_FGF_rcpt_fam,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 76 0 0 73 23 23.9583 HMX3 0 genome.wustl.edu 37 10 124896865 124896865 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 124896865 124896865 G A SNP HMX3 ENST00000357878 human ensembl 74_37 +1 known missense c.692 p.R231H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX3 HGNC ENSG00000188620 20 0 0 12 5 29.4118 CTBP2 0 genome.wustl.edu 37 10 126727703 126727703 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 126727703 126727703 G A SNP CTBP2 ENST00000460976 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTBP2 HGNC ENSG00000175029 19 0 0 20 11 35.4839 DOCK1 0 genome.wustl.edu 37 10 128836060 128836060 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 128836060 128836060 G A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.1927 p.D643N 0.997 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 12 0 0 13 5 27.7778 FAM196A 0 genome.wustl.edu 37 10 128974539 128974539 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 128974539 128974539 G A SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.121 p.R41W 0.986 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 98 0 0 74 43 36.7521 FAM196A 0 genome.wustl.edu 37 10 128974569 128974569 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 128974569 128974569 C T SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.91 p.A31T 0.872 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 99 0 0 86 34 28.3333 NKX6-2 0 genome.wustl.edu 37 10 134598438 134598438 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 134598438 134598438 G A SNP NKX6-2 ENST00000368592 human ensembl 74_37 -1 known silent c.816 p.G272 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 11 0 0 11 4 26.6667 CUBN 0 genome.wustl.edu 37 10 16893340 16893340 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 16893340 16893340 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9557 p.V3186A 0.006 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 63 0 0 55 8 12.6984 CUBN 0 genome.wustl.edu 37 10 17147455 17147455 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 17147455 17147455 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known splice_site c.1230+1 e11+1 1.000 - - - no_errors CUBN HGNC ENSG00000107611 87 0 0 82 35 29.9145 VIM 0 genome.wustl.edu 37 10 17278320 17278320 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 17278320 17278320 T C SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.1301 p.V434A 0.997 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 157 0 0 136 67 33.0049 GPR158 0 genome.wustl.edu 37 10 25887748 25887748 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 25887748 25887748 C T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3193 p.R1065C 0.014 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 132 0 0 76 36 32.1429 SVIL 0 genome.wustl.edu 37 10 29839766 29839766 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 29839766 29839766 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.587 p.P196L 0.104 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 91 0 0 53 25 32.0513 PFKP 0 genome.wustl.edu 37 10 3155672 3155672 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 3155672 3155672 G A SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.1333 p.A445T 0.999 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 19 0 0 11 13 54.1667 CREM 0 genome.wustl.edu 37 10 35500750 35500750 + RNA SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 35500750 35500750 T C SNP CREM ENST00000469517 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CREM HGNC ENSG00000095794 53 0 0 50 17 25.3731 SLC18A3 0 genome.wustl.edu 37 10 50819067 50819067 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 50819067 50819067 C T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.281 p.T94M 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 37 0 0 20 10 33.3333 PCDH15 0 genome.wustl.edu 37 10 55782869 55782869 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 55782869 55782869 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2309 p.S770N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 64 0 0 58 25 30.1205 FAM13C 0 genome.wustl.edu 37 10 61029761 61029761 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 61029761 61029761 T G SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.701 p.N234T 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 41 0 0 29 17 36.9565 ANK3 0 genome.wustl.edu 37 10 61835974 61835974 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 61835974 61835974 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.4665 p.A1555 0.253 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 161 0 0 149 71 32.2727 MYPN 0 genome.wustl.edu 37 10 69926240 69926240 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 69926240 69926240 G A SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.1790 p.R597H 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 47 0 0 38 24 38.7097 TET1 0 genome.wustl.edu 37 10 70450964 70450964 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 70450964 70450964 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5804 p.T1935M 0.003 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 93 0 0 64 51 44.3478 SRGN 0 genome.wustl.edu 37 10 70856875 70856875 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 70856875 70856875 C T SNP SRGN ENST00000242465 human ensembl 74_37 +1 known missense c.115 p.R39C 0.905 pfam_Serglycin pfam_Serglycin - no_errors SRGN HGNC ENSG00000122862 34 0 0 37 21 36.2069 HK1 0 genome.wustl.edu 37 10 71124621 71124621 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 71124621 71124621 C T SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.563 p.T188M 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 70 0 0 47 15 24.1935 HK1 0 genome.wustl.edu 37 10 71142254 71142254 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 71142254 71142254 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.1382 p.R461H 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 73 0 0 44 31 41.3333 CDH23 0 genome.wustl.edu 37 10 73491893 73491893 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 73491893 73491893 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.3880 p.A1294T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 54 0 0 36 12 25 CDH23 0 genome.wustl.edu 37 10 73572286 73572286 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 73572286 73572286 G A SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known missense c.2710 p.A904T 0.952 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 66 0 0 49 26 34.6667 ENSG00000272599 0 genome.wustl.edu 37 10 74885039 74885039 + RNA SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 74885039 74885039 C A SNP ENSG00000272599 ENST00000608444 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-152N13.16 Clone_based_vega_gene ENSG00000272599 71 0 0 61 19 23.75 ITIH5 0 genome.wustl.edu 37 10 7608295 7608295 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 7608295 7608295 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.2225 p.R742H 1.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 34 0 0 40 5 11.1111 ITIH5 0 genome.wustl.edu 37 10 7627891 7627891 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 7627891 7627891 A T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.1081 p.Y361N 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 52 0 0 52 6 10.3448 ZMIZ1 0 genome.wustl.edu 37 10 80968205 80968205 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 80968205 80968205 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.173 p.T58M 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 24 0 0 10 5 33.3333 CDHR1 0 genome.wustl.edu 37 10 85968128 85968128 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 85968128 85968128 G A SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.1162 p.D388N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 31 0 0 29 15 34.0909 CDHR1 0 genome.wustl.edu 37 10 85970853 85970853 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 85970853 85970853 G A SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.1417 p.D473N 0.998 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 99 0 0 73 26 26.2626 LDB3 0 genome.wustl.edu 37 10 88428474 88428474 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 88428474 88428474 G T SNP LDB3 ENST00000429277 human ensembl 74_37 +1 known missense c.26 p.G9V 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 38 0 0 29 19 39.5833 MMRN2 0 genome.wustl.edu 37 10 88703011 88703011 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 88703011 88703011 G A SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known silent c.1530 p.D510 0.007 superfamily_tRNA-bd_arm pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 46 0 0 24 8 25 ENSG00000271880 0 genome.wustl.edu 37 10 88768422 88768422 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 88768422 88768422 C T SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 315 0 0 267 107 28.6096 ANKRD22 0 genome.wustl.edu 37 10 90591679 90591679 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 90591679 90591679 C T SNP ANKRD22 ENST00000371930 human ensembl 74_37 -1 known silent c.126 p.T42 0.299 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ENSG00000152766 280 0 0 183 92 33.4545 ACTA2 0 genome.wustl.edu 37 10 90701549 90701549 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 90701549 90701549 G A SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known silent c.447 p.R149 0.869 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 34 0 0 31 12 27.907 KIF20B 0 genome.wustl.edu 37 10 91483813 91483813 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 91483813 91483813 T C SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known silent c.1815 p.V605 0.978 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 100 0 0 81 40 33.0579 PCGF5 0 genome.wustl.edu 37 10 92982626 92982626 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 92982626 92982626 C T SNP PCGF5 ENST00000490164 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PCGF5 HGNC ENSG00000180628 51 0 0 51 18 26.087 BTAF1 0 genome.wustl.edu 37 10 93744029 93744029 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 93744029 93744029 C T SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known silent c.2295 p.D765 1.000 pfam_DUF3535,superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 38 0 0 32 10 23.8095 MYOF 0 genome.wustl.edu 37 10 95069835 95069835 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 95069835 95069835 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.6089 p.G2030D 0.763 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 58 0 0 40 19 32.2034 PDE6C 0 genome.wustl.edu 37 10 95394529 95394529 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 95394529 95394529 C T SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known silent c.1134 p.D378 0.997 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 54 0 0 32 21 39.6226 SORBS1 0 genome.wustl.edu 37 10 97096789 97096789 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 97096789 97096789 C T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.3128 p.R1043H 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 49 0 0 52 22 29.7297 ALDH18A1 0 genome.wustl.edu 37 10 97397115 97397115 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 97397115 97397115 G A SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known missense c.382 p.R128C 1.000 pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn 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 54 0 0 29 19 39.5833 SLIT1 0 genome.wustl.edu 37 10 98764573 98764573 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 98764573 98764573 G A SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.3587 p.T1196M 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 57 0 0 27 15 35.7143 RRP12 0 genome.wustl.edu 37 10 99141494 99141494 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 99141494 99141494 G A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.1298 p.T433I 0.003 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 50 0 0 38 20 34.4828 HOGA1 0 genome.wustl.edu 37 10 99358872 99358872 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 99358872 99358872 G A SNP HOGA1 ENST00000370646 human ensembl 74_37 +1 known missense c.367 p.V123I 0.023 pfam_DapA-like pfam_DapA-like,prints_DapA-like - no_errors HOGA1 HGNC ENSG00000241935 73 0 0 72 29 28.7129 CRTAC1 0 genome.wustl.edu 37 10 99695979 99695979 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 99695979 99695979 G A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known silent c.369 p.D123 0.970 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 40 0 0 32 22 40.7407 MUC6 0 genome.wustl.edu 37 11 1017547 1017547 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 1017547 1017547 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.5254 p.H1752Y 0.232 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 950 0 0 1096 94 7.89916 KIAA1377 0 genome.wustl.edu 37 11 101834523 101834523 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 101834523 101834523 G A SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known silent c.2757 p.P919 0.000 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 125 0 0 145 15 9.375 DYNC2H1 0 genome.wustl.edu 37 11 103058206 103058206 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 103058206 103058206 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.7031 p.R2344H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 121 0 0 144 13 8.28025 ATM 0 genome.wustl.edu 37 11 108098419 108098419 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 108098419 108098419 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.68 p.R23Q 1.000 pfam_TAN pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 64 0 0 51 28 35.443 EXPH5 0 genome.wustl.edu 37 11 108385068 108385068 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 108385068 108385068 A C SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.1166 p.L389R 0.001 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 167 0 0 145 65 30.9524 RDX 0 genome.wustl.edu 37 11 110108291 110108291 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 110108291 110108291 G A SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.1177 p.R393C 1.000 pirsf_ERM,pfam_ERM_C_dom 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 67 0 0 44 25 36.2319 CSNK2A3 0 genome.wustl.edu 37 11 11374576 11374576 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 11374576 11374576 C T SNP CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel missense c.91 p.V31M 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 50 0 0 61 32 34.4086 HTR3B 0 genome.wustl.edu 37 11 113803030 113803030 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 113803030 113803030 C T SNP HTR3B ENST00000260191 human ensembl 74_37 +1 known missense c.388 p.P130S 0.991 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_5HT3_rcpt,prints_5HT3_rcpt_A,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 125 0 0 97 36 27.0677 CADM1 0 genome.wustl.edu 37 11 115088648 115088648 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 115088648 115088648 G A SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.785 p.A262V 1.000 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,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 68 0 0 55 21 27.6316 DSCAML1 0 genome.wustl.edu 37 11 117335741 117335741 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 117335741 117335741 T C SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.3362 p.Q1121R 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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 79 0 0 57 25 30.4878 CXCR5 0 genome.wustl.edu 37 11 118764511 118764511 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 118764511 118764511 G A SNP CXCR5 ENST00000292174 human ensembl 74_37 +1 known silent c.258 p.T86 0.142 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 51 0 0 37 20 35.0877 TRIM29 0 genome.wustl.edu 37 11 119993703 119993703 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 119993703 119993703 G A SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.1394 p.P465L 0.121 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 75 0 0 62 21 25.3012 TRIM29 0 genome.wustl.edu 37 11 120008291 120008291 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 120008291 120008291 C T SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.449 p.R150Q 0.018 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 72 0 0 58 32 35.5556 CRTAM 0 genome.wustl.edu 37 11 122733159 122733159 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 122733159 122733159 T C SNP CRTAM ENST00000533709 human ensembl 74_37 +1 known missense c.43 p.S15P 1.000 NULL NULL - no_errors CRTAM HGNC ENSG00000109943 37 0 0 26 16 38.0952 ZNF202 0 genome.wustl.edu 37 11 123596771 123596771 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 123596771 123596771 T C SNP ZNF202 ENST00000336139 human ensembl 74_37 -1 known silent c.1881 p.G627 0.129 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 86 0 0 79 31 28.1818 OR10G4 0 genome.wustl.edu 37 11 123887208 123887208 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 123887208 123887208 G T SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.927 p.Q309H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 54 0 0 50 15 23.0769 OR10G7 0 genome.wustl.edu 37 11 123909240 123909240 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 123909240 123909240 C A SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known missense c.469 p.V157F 0.956 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 184 0 0 137 56 29.0155 VSIG2 0 genome.wustl.edu 37 11 124619649 124619649 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 124619649 124619649 G A SNP VSIG2 ENST00000326621 human ensembl 74_37 -1 known missense c.541 p.R181C 0.129 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 102 0 0 91 52 36.3636 ROBO4 0 genome.wustl.edu 37 11 124765432 124765432 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 124765432 124765432 G A SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known silent c.957 p.Y319 0.993 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 ROBO4 HGNC ENSG00000154133 41 0 0 36 13 26.5306 ARHGAP32 0 genome.wustl.edu 37 11 128840874 128840874 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 128840874 128840874 G A SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.4192 p.R1398C 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 40 0 0 25 10 28.5714 RPS13 0 genome.wustl.edu 37 11 17098745 17098745 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 17098745 17098745 C T SNP RPS13 ENST00000525634 human ensembl 74_37 -1 known missense c.121 p.A41T 1.000 pfam_Ribosomal_S13/S15_N pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors RPS13 HGNC ENSG00000110700 166 0 0 148 69 31.7972 MYOD1 0 genome.wustl.edu 37 11 17742486 17742486 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 17742486 17742486 G A SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known missense c.668 p.R223Q 1.000 pfam_Myf5 pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 14 0 0 1 3 75 SPTY2D1 0 genome.wustl.edu 37 11 18633072 18633072 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 18633072 18633072 C T SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known missense c.1916 p.R639H 1.000 pfam_Chromatin_SPT2,smart_Chromatin_SPT2 pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 79 0 0 49 26 34.6667 IGSF22 0 genome.wustl.edu 37 11 18738330 18738330 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 18738330 18738330 G A SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known silent c.1191 p.G397 0.292 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 IGSF22 HGNC ENSG00000179057 105 0 0 83 51 38.0597 MRGPRX1 0 genome.wustl.edu 37 11 18955510 18955510 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 18955510 18955510 G A SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known silent c.822 p.F274 0.994 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 124 0 0 108 39 26.5306 TSPAN32 0 genome.wustl.edu 37 11 2339137 2339137 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 2339137 2339137 C T SNP TSPAN32 ENST00000182290 human ensembl 74_37 +1 known missense c.946 p.R316W 0.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 - no_errors TSPAN32 HGNC ENSG00000064201 26 0 0 11 5 31.25 CARS 0 genome.wustl.edu 37 11 3062131 3062131 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 3062131 3062131 G A SNP CARS ENST00000380525 human ensembl 74_37 -1 known silent c.450 p.H150 0.999 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 55 0 0 58 26 30.9524 OSBPL5 0 genome.wustl.edu 37 11 3140844 3140844 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 3140844 3140844 G A SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known silent c.624 p.S208 0.387 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 23 0 0 22 11 33.3333 PAMR1 0 genome.wustl.edu 37 11 35456304 35456304 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 35456304 35456304 C T SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.1433 p.R478H 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 64 0 0 53 22 29.3333 PRR5L 0 genome.wustl.edu 37 11 36484349 36484349 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 36484349 36484349 C T SNP PRR5L ENST00000389693 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRR5L HGNC ENSG00000135362 12 0 0 8 5 38.4615 NUP98 0 genome.wustl.edu 37 11 3697469 3697469 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 3697469 3697469 T C SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.5323 p.M1775V 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 82 0 0 59 18 23.3766 B4GALNT4 0 genome.wustl.edu 37 11 375665 375665 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 375665 375665 G A SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.877 p.V293M 1.000 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 44 0 0 28 14 33.3333 ANO9 0 genome.wustl.edu 37 11 418466 418466 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 418466 418466 G A SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known nonsense c.2254 p.Q752* 0.001 NULL pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 64 0 0 40 21 34.4262 API5 0 genome.wustl.edu 37 11 43351532 43351532 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 43351532 43351532 G A SNP API5 ENST00000531273 human ensembl 74_37 +1 known missense c.1145 p.R382Q 1.000 pfam_API5,superfamily_ARM-type_fold pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 74 0 0 50 15 23.0769 ACCS 0 genome.wustl.edu 37 11 44102762 44102762 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 44102762 44102762 C A SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.1003 p.L335M 0.964 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 72 0 0 48 23 32.3944 CHST1 0 genome.wustl.edu 37 11 45671251 45671251 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 45671251 45671251 C T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.1223 p.R408H 0.998 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 35 0 0 30 12 28.5714 AMBRA1 0 genome.wustl.edu 37 11 46419227 46419227 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 46419227 46419227 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known nonsense c.3670 p.R1224* 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 27 0 0 23 6 20.6897 AMBRA1 0 genome.wustl.edu 37 11 46564257 46564257 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 46564257 46564257 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.1310 p.P437L 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 60 0 0 51 30 37.037 AMBRA1 0 genome.wustl.edu 37 11 46568814 46568814 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 46568814 46568814 T G SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.227 p.N76T 1.000 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 AMBRA1 HGNC ENSG00000110497 109 0 0 102 37 26.6187 OR51F1 0 genome.wustl.edu 37 11 4790804 4790804 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 4790804 4790804 C T SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.365 p.G122E 0.428 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 OR51F1 HGNC ENSG00000188069 52 0 0 48 8 14.2857 PTDSS2 0 genome.wustl.edu 37 11 479107 479107 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 479107 479107 C T SNP PTDSS2 ENST00000308020 human ensembl 74_37 +1 known silent c.390 p.C130 1.000 pfam_PSS pfam_PSS - no_errors PTDSS2 HGNC ENSG00000174915 157 1 0.632911 126 53 29.6089 OR4B1 0 genome.wustl.edu 37 11 48238681 48238681 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 48238681 48238681 T C SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known missense c.320 p.V107A 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 OR4B1 HGNC ENSG00000175619 133 0 0 111 62 35.8382 OR4X1 0 genome.wustl.edu 37 11 48286043 48286043 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 48286043 48286043 G A SNP OR4X1 ENST00000320048 human ensembl 74_37 +1 known missense c.631 p.V211M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 36 0 0 21 9 30 OR51G1 0 genome.wustl.edu 37 11 4945161 4945161 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 4945161 4945161 C T SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.409 p.V137I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 73 0 0 60 28 31.8182 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 66 0 0 67 14 17.284 OR8K5 0 genome.wustl.edu 37 11 55927379 55927379 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 55927379 55927379 G A SNP OR8K5 ENST00000313447 human ensembl 74_37 -1 known nonsense c.415 p.R139* 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 107 0 0 100 32 24.2424 OR8H1 0 genome.wustl.edu 37 11 56058017 56058017 + Silent SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 56058017 56058017 A T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.522 p.R174 0.001 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 OR8H1 HGNC ENSG00000181693 95 0 0 91 12 11.6505 GLYATL1 0 genome.wustl.edu 37 11 58723451 58723451 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 58723451 58723451 G A SNP GLYATL1 ENST00000300079 human ensembl 74_37 +1 known missense c.953 p.C318Y 0.016 pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 65 0 0 47 34 41.9753 OR5A1 0 genome.wustl.edu 37 11 59211421 59211421 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 59211421 59211421 C T SNP OR5A1 ENST00000302030 human ensembl 74_37 +1 known silent c.780 p.F260 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5A1 HGNC ENSG00000172320 205 0 0 137 73 34.7619 PATL1 0 genome.wustl.edu 37 11 59406604 59406604 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 59406604 59406604 T C SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known silent c.2208 p.P736 0.004 NULL pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 55 0 0 44 22 33.3333 PHRF1 0 genome.wustl.edu 37 11 598418 598418 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 598418 598418 G A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.940 p.E314K 0.996 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 16 0 0 14 7 33.3333 PHRF1 0 genome.wustl.edu 37 11 608437 608437 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 608437 608437 G A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.2981 p.R994H 0.994 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 12 0 0 12 3 20 MYRF 0 genome.wustl.edu 37 11 61543860 61543860 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 61543860 61543860 C A SNP MYRF ENST00000278836 human ensembl 74_37 +1 known silent c.1455 p.T485 0.007 pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 28 0 0 31 3 8.82353 AHNAK 0 genome.wustl.edu 37 11 62285596 62285596 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 62285596 62285596 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.16293 p.G5431 0.056 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 107 0 0 67 24 26.3736 TUT1 0 genome.wustl.edu 37 11 62349015 62349015 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 62349015 62349015 G A SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known silent c.546 p.P182 0.039 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 28 0 0 17 15 46.875 FAM160A2 0 genome.wustl.edu 37 11 6244371 6244371 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 6244371 6244371 A G SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.875 p.L292P 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 172 0 0 135 65 32.5 TTC9C 0 genome.wustl.edu 37 11 62496491 62496491 + Silent SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 62496491 62496491 G C SNP TTC9C ENST00000513247 human ensembl 74_37 +1 known silent c.570 p.P190 0.009 NULL NULL - no_errors TTC9C HGNC ENSG00000162222 70 0 0 57 36 38.7097 MARK2 0 genome.wustl.edu 37 11 63676573 63676573 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 63676573 63676573 A G SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.2231 p.D744G 0.990 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 52 0 0 73 4 5.19481 NAA40 0 genome.wustl.edu 37 11 63720200 63720200 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 63720200 63720200 C T SNP NAA40 ENST00000542633 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NAA40 HGNC ENSG00000110583 21 0 0 19 17 47.2222 SMPD1 0 genome.wustl.edu 37 11 6413002 6413002 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 6413002 6413002 C T SNP SMPD1 ENST00000342245 human ensembl 74_37 +1 known missense c.707 p.P236L 0.966 pfam_PEstase_dom,pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 32 0 0 19 14 42.4242 APBB1 0 genome.wustl.edu 37 11 6432180 6432180 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 6432180 6432180 C T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known missense c.398 p.R133Q 0.994 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 136 0 0 103 37 26.4286 NAALADL1 0 genome.wustl.edu 37 11 64813303 64813303 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 64813303 64813303 C T SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known missense c.2027 p.R676H 0.955 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 24 0 0 27 11 28.9474 PCNXL3 0 genome.wustl.edu 37 11 65392970 65392970 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 65392970 65392970 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.3124 p.R1042C 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 17 0 0 22 5 18.5185 AP5B1 0 genome.wustl.edu 37 11 65547392 65547392 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 65547392 65547392 A G SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.572 p.L191P 0.268 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 9 0 0 15 9 37.5 GAL3ST3 0 genome.wustl.edu 37 11 65810630 65810630 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 65810630 65810630 C T SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.644 p.R215H 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 26 0 0 18 7 28 PACS1 0 genome.wustl.edu 37 11 65998373 65998373 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 65998373 65998373 G A SNP PACS1 ENST00000320580 human ensembl 74_37 +1 known missense c.1588 p.D530N 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 59 0 0 27 18 40 RIN1 0 genome.wustl.edu 37 11 66099763 66099763 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 66099763 66099763 C T SNP RIN1 ENST00000311320 human ensembl 74_37 -1 known missense c.2336 p.R779Q 0.000 NULL pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 135 0 0 74 53 41.7323 DPP3 0 genome.wustl.edu 37 11 66249741 66249741 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 66249741 66249741 C T SNP DPP3 ENST00000360510 human ensembl 74_37 +1 known missense c.70 p.R24C 0.998 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 40 0 0 31 13 29.5455 RBM14 0 genome.wustl.edu 37 11 66393068 66393068 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 66393068 66393068 C T SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.1721 p.P574L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 18 0 0 13 6 31.5789 KDM2A 0 genome.wustl.edu 37 11 67017609 67017609 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 67017609 67017609 G T SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.2108 p.R703L 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 21 0 0 21 6 22.2222 ADRBK1 0 genome.wustl.edu 37 11 67051736 67051736 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 67051736 67051736 C T SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.1546 p.R516W 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 86 0 0 46 26 36.1111 CORO1B 0 genome.wustl.edu 37 11 67205786 67205786 + RNA SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 67205786 67205786 T C SNP CORO1B ENST00000539724 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CORO1B HGNC ENSG00000172725 24 0 0 12 10 45.4545 LRP5 0 genome.wustl.edu 37 11 68205952 68205952 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 68205952 68205952 A C SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.4150 p.S1384R 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 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 43 0 0 37 13 26 OR10A5 0 genome.wustl.edu 37 11 6867015 6867015 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 6867015 6867015 T C SNP OR10A5 ENST00000379831 human ensembl 74_37 +1 known silent c.114 p.T38 0.047 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 207 1 0.480769 157 28 15.1351 OR10A2 0 genome.wustl.edu 37 11 6891003 6891003 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 6891003 6891003 G A SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known silent c.18 p.L6 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A2 HGNC ENSG00000170790 233 0 0 245 31 11.2319 OR10A2 0 genome.wustl.edu 37 11 6891024 6891024 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 6891024 6891024 A G SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known silent c.39 p.L13 0.075 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A2 HGNC ENSG00000170790 240 0 0 275 43 13.522 OR10A2 0 genome.wustl.edu 37 11 6891030 6891030 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 6891030 6891030 T C SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known silent c.45 p.F15 0.025 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A2 HGNC ENSG00000170790 232 0 0 277 54 16.3142 MYEOV 0 genome.wustl.edu 37 11 69063312 69063312 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 69063312 69063312 G A SNP MYEOV ENST00000308946 human ensembl 74_37 +1 known missense c.395 p.R132Q 0.000 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 141 0 0 119 34 22.2222 LRTOMT 0 genome.wustl.edu 37 11 71806464 71806464 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 71806464 71806464 C T SNP LRTOMT ENST00000539271 human ensembl 74_37 +1 putative missense c.74 p.S25L 0.995 NULL NULL - no_errors LRTOMT HGNC ENSG00000184154 62 0 0 47 20 29.8507 FOLR2 0 genome.wustl.edu 37 11 71931995 71931995 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 71931995 71931995 T G SNP FOLR2 ENST00000298223 human ensembl 74_37 +1 known missense c.232 p.F78V 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR2 HGNC ENSG00000165457 44 0 0 29 8 21.6216 ARAP1 0 genome.wustl.edu 37 11 72396593 72396593 + RNA SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 72396593 72396593 G T SNP ARAP1 ENST00000495878 human ensembl 74_37 -1 known rna NULL NULL 0.928 - - - no_errors ARAP1 HGNC ENSG00000186635 29 0 0 11 18 62.069 C2CD3 0 genome.wustl.edu 37 11 73785348 73785348 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 73785348 73785348 G A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.4901 p.T1634M 0.985 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 47 0 0 36 19 34.5455 OR2AT4 0 genome.wustl.edu 37 11 74800716 74800716 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 74800716 74800716 C T SNP OR2AT4 ENST00000305159 human ensembl 74_37 -1 known missense c.43 p.V15I 0.006 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 43 0 0 39 22 36.0656 GDPD5 0 genome.wustl.edu 37 11 75146602 75146602 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 75146602 75146602 G A SNP GDPD5 ENST00000336898 human ensembl 74_37 -1 known nonsense c.1768 p.R590* 0.038 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD5 HGNC ENSG00000158555 44 0 0 43 20 31.746 OVCH2 0 genome.wustl.edu 37 11 7716409 7716409 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 7716409 7716409 G T SNP OVCH2 ENST00000454689 human ensembl 74_37 -1 known nonsense c.1293 p.C431* 0.141 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,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 OVCH2 HGNC ENSG00000183378 14 0 0 12 4 25 CCDC81 0 genome.wustl.edu 37 11 86133684 86133684 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 86133684 86133684 G A SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known missense c.1886 p.R629H 0.716 NULL superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 39 0 0 31 24 43.6364 ME3 0 genome.wustl.edu 37 11 86161430 86161430 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 86161430 86161430 G A SNP ME3 ENST00000359636 human ensembl 74_37 -1 known silent c.930 p.S310 0.103 pfam_Malic_NAD-bd,smart_Malic_NAD-bd,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 28 0 0 16 9 36 ME3 0 genome.wustl.edu 37 11 86270753 86270753 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 86270753 86270753 C T SNP ME3 ENST00000359636 human ensembl 74_37 -1 known missense c.296 p.R99Q 0.891 NULL pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 157 0 0 107 54 33.5404 FOLH1B 0 genome.wustl.edu 37 11 89431831 89431831 + RNA SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 89431831 89431831 T C SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FOLH1B HGNC ENSG00000134612 8 0 0 11 6 35.2941 NRIP3 0 genome.wustl.edu 37 11 9009687 9009687 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 9009687 9009687 T C SNP NRIP3 ENST00000309166 human ensembl 74_37 -1 known missense c.317 p.D106G 1.000 pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP3 HGNC ENSG00000175352 127 1 0.78125 99 52 34.4371 DENND5A 0 genome.wustl.edu 37 11 9191462 9191462 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 9191462 9191462 G A SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.2092 p.R698W 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 136 0 0 155 31 16.6667 FAT3 0 genome.wustl.edu 37 11 92088438 92088438 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 92088438 92088438 G C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.3160 p.E1054Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,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 71 0 0 50 21 29.5775 CWC15 0 genome.wustl.edu 37 11 94704653 94704653 + Splice_Site SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 94704653 94704653 T C SNP CWC15 ENST00000279839 human ensembl 74_37 -1 known splice_site c.132-2 e2-2 1.000 - - - no_errors CWC15 HGNC ENSG00000150316 21 0 0 19 13 40.625 CCDC82 0 genome.wustl.edu 37 11 96086838 96086838 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 96086838 96086838 T C SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known missense c.1607 p.Y536C 1.000 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 69 0 0 63 27 30 STAB2 0 genome.wustl.edu 37 12 104030991 104030991 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 104030991 104030991 G A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.686 p.R229Q 0.003 smart_EG-like_dom,pfscan_EG-like_dom 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 107 0 0 103 46 30.8725 TXNRD1 0 genome.wustl.edu 37 12 104733053 104733053 + Splice_Site SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 104733053 104733053 T C SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known splice_site c.1881+2 e16+2 1.000 - - - no_errors TXNRD1 HGNC ENSG00000198431 46 0 0 44 7 13.7255 MAGOHB 0 genome.wustl.edu 37 12 10762434 10762434 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 10762434 10762434 C T SNP MAGOHB ENST00000320756 human ensembl 74_37 -1 known missense c.260 p.R87Q 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOHB HGNC ENSG00000111196 28 0 0 21 9 30 USP30 0 genome.wustl.edu 37 12 109509471 109509471 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 109509471 109509471 C T SNP USP30 ENST00000257548 human ensembl 74_37 +1 known missense c.535 p.R179C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 50 0 0 37 19 33.9286 FAM222A 0 genome.wustl.edu 37 12 110206924 110206924 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 110206924 110206924 G A SNP FAM222A ENST00000358906 human ensembl 74_37 +1 known missense c.1190 p.C397Y 1.000 NULL NULL - no_errors FAM222A HGNC ENSG00000139438 13 0 0 7 7 50 HECTD4 0 genome.wustl.edu 37 12 112696395 112696395 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 112696395 112696395 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.2487 p.A829 0.968 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 85 0 0 59 27 31.3953 TBX5 0 genome.wustl.edu 37 12 114793517 114793517 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 114793517 114793517 G T SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known silent c.1377 p.T459 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 TBX5 HGNC ENSG00000089225 20 0 0 13 10 43.4783 NOS1 0 genome.wustl.edu 37 12 117672425 117672425 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 117672425 117672425 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.3180 p.P1060 0.997 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 44 0 0 31 11 26.1905 NOS1 0 genome.wustl.edu 37 12 117728174 117728174 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 117728174 117728174 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.910 p.R304C 1.000 superfamily_NO_synthase_oxygenase_dom,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 42 0 0 23 9 28.125 GCN1L1 0 genome.wustl.edu 37 12 120585995 120585995 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 120585995 120585995 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.4702 p.V1568I 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 41 0 0 36 12 25 PXN 0 genome.wustl.edu 37 12 120651713 120651713 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 120651713 120651713 G A SNP PXN ENST00000267257 human ensembl 74_37 -1 known missense c.1483 p.R495W 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 15 0 0 6 7 53.8462 OASL 0 genome.wustl.edu 37 12 121458651 121458651 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 121458651 121458651 A C SNP OASL ENST00000257570 human ensembl 74_37 -1 known missense c.1258 p.S420A 0.971 smart_Ubiquitin_dom pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 59 0 0 32 26 44.8276 KDM2B 0 genome.wustl.edu 37 12 121878950 121878950 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 121878950 121878950 C T SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.3371 p.R1124Q 0.973 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 44 0 0 27 15 35.7143 HIP1R 0 genome.wustl.edu 37 12 123344320 123344320 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 123344320 123344320 A G SNP HIP1R ENST00000253083 human ensembl 74_37 +1 known missense c.2408 p.D803G 1.000 pfscan_ILWEQ_dom 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 36 0 0 25 11 30.5556 PITPNM2 0 genome.wustl.edu 37 12 123481982 123481982 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 123481982 123481982 G A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known silent c.1362 p.N454 0.027 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 69 0 0 34 20 37.037 NCOR2 0 genome.wustl.edu 37 12 124887004 124887004 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 124887004 124887004 G T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1586 p.A529E 0.934 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 19 0 0 18 9 33.3333 TMEM132D 0 genome.wustl.edu 37 12 130184470 130184470 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 130184470 130184470 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.853 p.R285C 0.471 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 47 0 0 37 16 30.1887 EP400 0 genome.wustl.edu 37 12 132504627 132504627 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 132504627 132504627 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.4419 p.P1473 0.578 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 47 0 0 39 10 20.4082 EP400NL 0 genome.wustl.edu 37 12 132588802 132588802 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 132588802 132588802 G A SNP EP400NL ENST00000376625 human ensembl 74_37 +1 known silent c.237 p.T79 0.848 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 13 0 0 17 7 29.1667 GOLGA3 0 genome.wustl.edu 37 12 133350862 133350862 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 133350862 133350862 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known silent c.4188 p.T1396 0.018 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 49 0 0 32 20 38.4615 WNT5B 0 genome.wustl.edu 37 12 1755092 1755092 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 1755092 1755092 G A SNP WNT5B ENST00000310594 human ensembl 74_37 +1 known missense c.754 p.A252T 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 26 0 0 16 11 40.7407 ABCC9 0 genome.wustl.edu 37 12 22005053 22005053 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 22005053 22005053 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2747 p.R916Q 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 32 0 0 22 12 35.2941 RASSF8 0 genome.wustl.edu 37 12 26217838 26217838 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 26217838 26217838 C T SNP RASSF8 ENST00000282884 human ensembl 74_37 +1 known missense c.511 p.R171C 0.974 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF8 HGNC ENSG00000123094 114 0 0 85 35 29.1667 ITPR2 0 genome.wustl.edu 37 12 26752167 26752167 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 26752167 26752167 G A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.3913 p.R1305C 1.000 pfam_Ca-rel_channel,superfamily_ARM-type_fold 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 ITPR2 HGNC ENSG00000123104 170 0 0 128 61 32.2751 KLHL42 0 genome.wustl.edu 37 12 27950929 27950929 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 27950929 27950929 G A SNP KLHL42 ENST00000381271 human ensembl 74_37 +1 known missense c.1348 p.G450S 1.000 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 60 0 0 34 17 33.3333 IQSEC3 0 genome.wustl.edu 37 12 280307 280307 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 280307 280307 C T SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.3094 p.P1032S 0.161 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 36 0 0 28 8 22.2222 FAR2 0 genome.wustl.edu 37 12 29423430 29423430 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 29423430 29423430 G A SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known silent c.48 p.T16 0.004 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 39 0 0 27 17 38.6364 DDX11 0 genome.wustl.edu 37 12 31249595 31249595 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 31249595 31249595 G A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.1546 p.G516R 0.022 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 44 0 0 41 22 34.9206 PRICKLE1 0 genome.wustl.edu 37 12 42859016 42859016 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 42859016 42859016 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.820 p.A274T 1.000 pfam_Znf_LIM,smart_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 66 0 0 55 18 24.6575 ARID2 0 genome.wustl.edu 37 12 46246296 46246296 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 46246296 46246296 C T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.4390 p.R1464C 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 138 0 0 98 57 36.7742 ZNF641 0 genome.wustl.edu 37 12 48737355 48737355 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 48737355 48737355 G C SNP ZNF641 ENST00000301042 human ensembl 74_37 -1 known missense c.718 p.P240A 0.336 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 ZNF641 HGNC ENSG00000167528 36 0 0 42 3 6.66667 TUBA1C 0 genome.wustl.edu 37 12 49663409 49663409 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 49663409 49663409 A G SNP TUBA1C ENST00000301072 human ensembl 74_37 +1 known silent c.165 p.E55 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_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_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC ENSG00000167553 127 0 0 101 17 14.4068 PRPF40B 0 genome.wustl.edu 37 12 50025223 50025223 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 50025223 50025223 G T SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.124 p.G42W 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 111 1 0.892857 81 30 27.027 RACGAP1 0 genome.wustl.edu 37 12 50386088 50386088 + Silent SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 50386088 50386088 G C SNP RACGAP1 ENST00000312377 human ensembl 74_37 -1 known silent c.1518 p.A506 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 99 0 0 77 31 28.7037 SLC11A2 0 genome.wustl.edu 37 12 51394196 51394196 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 51394196 51394196 G A SNP SLC11A2 ENST00000394904 human ensembl 74_37 -1 known nonsense c.523 p.R175* 1.000 pfam_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A2 HGNC ENSG00000110911 53 0 0 47 21 30.8824 KRT85 0 genome.wustl.edu 37 12 52761184 52761184 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 52761184 52761184 C T SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.6 p.S2 0.567 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 22 0 0 16 9 36 HOXC13 0 genome.wustl.edu 37 12 54338837 54338837 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 54338837 54338837 C T SNP HOXC13 ENST00000243056 human ensembl 74_37 +1 known missense c.790 p.R264C 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 84 0 0 53 38 41.7582 HOXC12 0 genome.wustl.edu 37 12 54350327 54350327 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 54350327 54350327 G A SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known missense c.826 p.E276K 1.000 smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 111 0 0 75 25 25 PA2G4 0 genome.wustl.edu 37 12 56504448 56504448 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 56504448 56504448 C T SNP PA2G4 ENST00000303305 human ensembl 74_37 +1 known missense c.814 p.R272C 1.000 superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 53 0 0 65 8 10.9589 SMARCC2 0 genome.wustl.edu 37 12 56563355 56563355 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 56563355 56563355 G A SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.2580 p.T860 0.481 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 32 0 0 24 14 36.8421 NABP2 0 genome.wustl.edu 37 12 56622977 56622977 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 56622977 56622977 C T SNP NABP2 ENST00000267023 human ensembl 74_37 +1 known missense c.616 p.R206W 1.000 NULL pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold - no_errors NABP2 HGNC ENSG00000139579 61 0 0 53 23 30.2632 PAN2 0 genome.wustl.edu 37 12 56718087 56718087 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 56718087 56718087 G A SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.1919 p.A640V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 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 85 0 0 92 30 24.5902 BAZ2A 0 genome.wustl.edu 37 12 56995134 56995134 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 56995134 56995134 G A SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.4130 p.T1377M 0.750 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 48 0 0 25 19 43.1818 LRP1 0 genome.wustl.edu 37 12 57578171 57578171 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 57578171 57578171 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.6122 p.T2041M 0.554 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 60 0 0 55 25 31.25 SHMT2 0 genome.wustl.edu 37 12 57625344 57625344 + Splice_Site SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 57625344 57625344 G A SNP SHMT2 ENST00000328923 human ensembl 74_37 +1 known splice_site c.311+1 e3+1 1.000 - - - no_errors SHMT2 HGNC ENSG00000182199 28 0 0 26 13 33.3333 ARHGAP9 0 genome.wustl.edu 37 12 57867953 57867953 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 57867953 57867953 C T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.1847 p.R616Q 0.919 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 52 0 0 31 17 35.4167 C12orf66 0 genome.wustl.edu 37 12 64609628 64609628 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 64609628 64609628 G A SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known silent c.351 p.H117 0.974 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 18 0 0 12 6 33.3333 TMBIM4 0 genome.wustl.edu 37 12 66546105 66546105 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 66546105 66546105 C T SNP TMBIM4 ENST00000358230 human ensembl 74_37 -1 known silent c.258 p.A86 0.119 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 44 0 0 54 14 20.5882 GRIP1 0 genome.wustl.edu 37 12 66771012 66771012 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 66771012 66771012 G A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.2675 p.S892F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 184 0 0 143 70 32.8638 LGR5 0 genome.wustl.edu 37 12 71974201 71974201 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 71974201 71974201 A G SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known missense c.1550 p.Q517R 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 177 0 0 134 75 35.8852 ACSM4 0 genome.wustl.edu 37 12 7475033 7475033 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 7475033 7475033 C T SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.1021 p.R341W 0.002 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 49 0 0 50 9 15.2542 NAP1L1 0 genome.wustl.edu 37 12 76461164 76461164 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 76461164 76461164 C T SNP NAP1L1 ENST00000261182 human ensembl 74_37 -1 known missense c.193 p.G65R 1.000 NULL pfam_NAP_family - no_errors NAP1L1 HGNC ENSG00000187109 69 0 0 64 31 32.6316 CD163 0 genome.wustl.edu 37 12 7649629 7649629 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 7649629 7649629 G A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known silent c.879 p.D293 0.001 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 67 0 0 44 22 33.3333 E2F7 0 genome.wustl.edu 37 12 77440093 77440093 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 77440093 77440093 C T SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.554 p.R185H 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 40 0 0 45 20 30.7692 TMTC2 0 genome.wustl.edu 37 12 83324294 83324294 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 83324294 83324294 G A SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known missense c.1568 p.R523H 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 61 0 0 36 16 30.7692 SLC6A15 0 genome.wustl.edu 37 12 85266867 85266867 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 85266867 85266867 G A SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known nonsense c.1108 p.Q370* 0.365 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 48 0 0 51 8 13.5593 LRRIQ1 0 genome.wustl.edu 37 12 85547850 85547850 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 85547850 85547850 G A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known silent c.4698 p.S1566 0.884 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 22 0 0 19 11 36.6667 KLRG1 0 genome.wustl.edu 37 12 9144878 9144878 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 9144878 9144878 G A SNP KLRG1 ENST00000266551 human ensembl 74_37 +1 known silent c.159 p.V53 0.180 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG1 HGNC ENSG00000139187 150 0 0 115 46 28.5714 KERA 0 genome.wustl.edu 37 12 91449951 91449951 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 91449951 91449951 A G SNP KERA ENST00000266719 human ensembl 74_37 -1 known silent c.108 p.T36 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors KERA HGNC ENSG00000139330 48 0 0 69 5 6.75676 A2M 0 genome.wustl.edu 37 12 9231878 9231878 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 9231878 9231878 G T SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.3081 p.T1027 0.996 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 39 0 0 31 15 32.6087 A2M 0 genome.wustl.edu 37 12 9246145 9246145 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 9246145 9246145 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.2156 p.R719H 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 37 0 0 34 14 29.1667 PZP 0 genome.wustl.edu 37 12 9318694 9318694 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 9318694 9318694 G A SNP PZP ENST00000261336 human ensembl 74_37 -1 known nonsense c.2212 p.R738* 0.038 NULL 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 163 0 0 103 63 37.9518 PZP 0 genome.wustl.edu 37 12 9353635 9353635 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 9353635 9353635 C A SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.523 p.A175S 0.004 pfam_A2M_N 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 108 0 0 74 22 22.9167 NALCN 0 genome.wustl.edu 37 13 101710303 101710303 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 101710303 101710303 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.5011 p.R1671C 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 63 0 0 69 11 13.75 MYO16 0 genome.wustl.edu 37 13 109459100 109459100 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 109459100 109459100 T C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.749 p.I250T 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 40 0 0 58 4 6.45161 SOX1 0 genome.wustl.edu 37 13 112722004 112722004 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 112722004 112722004 A G SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.32 p.H11R 0.999 NULL pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 11 0 0 6 4 40 TMCO3 0 genome.wustl.edu 37 13 114174950 114174950 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 114174950 114174950 C T SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known silent c.1245 p.T415 0.120 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 57 0 0 43 24 35.8209 MPHOSPH8 0 genome.wustl.edu 37 13 20235889 20235889 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 20235889 20235889 G A SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known missense c.1843 p.D615N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,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 149 0 0 111 47 29.7468 ZDHHC20 0 genome.wustl.edu 37 13 21976959 21976959 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 21976959 21976959 C T SNP ZDHHC20 ENST00000400590 human ensembl 74_37 -1 known silent c.417 p.A139 0.013 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC20 HGNC ENSG00000180776 27 0 0 24 6 20 MICU2 0 genome.wustl.edu 37 13 22113448 22113448 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 22113448 22113448 G A SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known silent c.459 p.G153 0.976 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 43 0 0 28 8 22.2222 ATP8A2 0 genome.wustl.edu 37 13 26151257 26151257 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 26151257 26151257 G A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.1763 p.R588Q 0.998 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 120 0 0 85 33 27.9661 HSPH1 0 genome.wustl.edu 37 13 31729764 31729764 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 31729764 31729764 A T SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known missense c.199 p.S67T 0.996 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 88 0 0 90 30 25 N4BP2L2 0 genome.wustl.edu 37 13 33092117 33092117 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 33092117 33092117 C T SNP N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known missense c.287 p.R96Q 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 45 0 0 25 15 37.5 TRPC4 0 genome.wustl.edu 37 13 38266432 38266432 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 38266432 38266432 C T SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.938 p.R313H 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 42 0 0 22 5 18.5185 FREM2 0 genome.wustl.edu 37 13 39262147 39262147 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 39262147 39262147 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.666 p.S222 0.001 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 17 0 0 19 4 17.3913 FREM2 0 genome.wustl.edu 37 13 39422774 39422774 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 39422774 39422774 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.6346 p.A2116T 1.000 smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 39 0 0 26 16 38.0952 VWA8 0 genome.wustl.edu 37 13 42277527 42277527 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 42277527 42277527 G A SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.3137 p.T1046M 0.990 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 38 0 0 39 21 35 DGKH 0 genome.wustl.edu 37 13 42742861 42742861 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 42742861 42742861 G A SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.1274 p.R425Q 0.995 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 129 0 0 102 57 35.8491 ZC3H13 0 genome.wustl.edu 37 13 46543351 46543351 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 46543351 46543351 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.3328 p.A1110T 0.016 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 25 0 0 13 18 58.0645 ZC3H13 0 genome.wustl.edu 37 13 46559533 46559533 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 46559533 46559533 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.1619 p.R540H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 63 0 0 56 26 31.7073 ZC3H13 0 genome.wustl.edu 37 13 46616316 46616316 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 46616316 46616316 A G SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.322 p.S108P 0.943 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 65 0 0 57 22 27.8481 RCBTB1 0 genome.wustl.edu 37 13 50125518 50125518 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 50125518 50125518 T C SNP RCBTB1 ENST00000258646 human ensembl 74_37 -1 known silent c.798 p.G266 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_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 89 0 0 56 36 39.1304 TDRD3 0 genome.wustl.edu 37 13 61102603 61102603 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 61102603 61102603 G A SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.1244 p.R415Q 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 114 0 0 95 41 30.1471 BORA 0 genome.wustl.edu 37 13 73320743 73320743 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 73320743 73320743 C T SNP BORA ENST00000390667 human ensembl 74_37 +1 known missense c.976 p.P326S 1.000 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 75 0 0 69 34 33.0097 MIR622 0 genome.wustl.edu 37 13 90883462 90883462 + RNA SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 90883462 90883462 A G SNP MIR622 ENST00000385123 human ensembl 74_37 +1 known rna NULL NULL 0.974 - - - no_errors MIR622 HGNC ENSG00000207858 42 0 0 31 15 32.6087 GPR180 0 genome.wustl.edu 37 13 95279412 95279412 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 95279412 95279412 G A SNP GPR180 ENST00000376958 human ensembl 74_37 +1 known missense c.1310 p.R437H 1.000 NULL pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 61 0 0 38 17 30.9091 HS6ST3 0 genome.wustl.edu 37 13 96743551 96743551 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 96743551 96743551 C T SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known silent c.435 p.R145 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 31 0 0 17 7 29.1667 FARP1 0 genome.wustl.edu 37 13 99092253 99092253 + Nonsense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 99092253 99092253 C A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known nonsense c.2565 p.C855* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 118 0 0 119 10 7.75194 DYNC1H1 0 genome.wustl.edu 37 14 102449771 102449771 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 102449771 102449771 A G SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.1286 p.K429R 1.000 pfam_Dynein_heavy_dom-1 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 44 0 0 61 4 6.15385 CEP170B 0 genome.wustl.edu 37 14 105346747 105346747 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 105346747 105346747 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.457 p.R153W 0.997 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 19 0 0 22 7 24.1379 AHNAK2 0 genome.wustl.edu 37 14 105418818 105418818 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 105418818 105418818 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.2970 p.D990 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 365 2 0.544959 271 114 29.6104 TEP1 0 genome.wustl.edu 37 14 20854765 20854765 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 20854765 20854765 A C SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.2702 p.L901R 1.000 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 25 0 0 19 12 38.7097 OSGEP 0 genome.wustl.edu 37 14 20916315 20916315 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 20916315 20916315 T C SNP OSGEP ENST00000206542 human ensembl 74_37 -1 known missense c.652 p.M218V 1.000 pfam_Gcp-like_dom,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEP HGNC ENSG00000092094 188 0 0 156 81 34.1772 EDDM3B 0 genome.wustl.edu 37 14 21238745 21238745 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 21238745 21238745 G A SNP EDDM3B ENST00000326783 human ensembl 74_37 +1 known missense c.436 p.G146S 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain - no_errors EDDM3B HGNC ENSG00000181552 53 0 0 40 27 40.2985 CHD8 0 genome.wustl.edu 37 14 21899124 21899124 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 21899124 21899124 T C SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.679 p.K227E 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 20 0 0 38 2 5 RAB2B 0 genome.wustl.edu 37 14 21936840 21936840 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 21936840 21936840 G A SNP RAB2B ENST00000397762 human ensembl 74_37 -1 known silent c.258 p.Y86 0.968 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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2B HGNC ENSG00000129472 95 0 0 100 7 6.54206 HOMEZ 0 genome.wustl.edu 37 14 23745054 23745054 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 23745054 23745054 C T SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known silent c.1389 p.P463 0.007 superfamily_Homeodomain-like superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 58 0 0 38 8 17.3913 MYH7 0 genome.wustl.edu 37 14 23887443 23887443 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 23887443 23887443 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4145 p.R1382Q 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 121 0 0 79 52 39.6947 LRRC16B 0 genome.wustl.edu 37 14 24525864 24525864 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 24525864 24525864 T C SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.899 p.F300S 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 67 0 0 45 22 32.8358 TGM1 0 genome.wustl.edu 37 14 24729876 24729876 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 24729876 24729876 C T SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known silent c.537 p.T179 0.998 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 66 0 0 65 31 32.2917 LTB4R2 0 genome.wustl.edu 37 14 24780931 24780931 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 24780931 24780931 C T SNP LTB4R2 ENST00000528054 human ensembl 74_37 +1 known missense c.1154 p.P385L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_typ-2_rcpt,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn - no_errors LTB4R2 Uniprot_gn ENSG00000272658 28 0 0 14 13 48.1481 NYNRIN 0 genome.wustl.edu 37 14 24880323 24880323 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 24880323 24880323 T C SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.2456 p.M819T 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 69 0 0 61 29 32.2222 NYNRIN 0 genome.wustl.edu 37 14 24884436 24884436 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 24884436 24884436 C T SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.3481 p.R1161C 0.820 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 45 0 0 28 16 36.3636 STRN3 0 genome.wustl.edu 37 14 31424869 31424869 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 31424869 31424869 C T SNP STRN3 ENST00000357479 human ensembl 74_37 -1 known silent c.417 p.T139 1.000 pfam_Striatin_N pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN3 HGNC ENSG00000196792 37 0 0 51 14 21.5385 HECTD1 0 genome.wustl.edu 37 14 31575978 31575978 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 31575978 31575978 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.7100 p.A2367V 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 53 0 0 66 4 5.71429 EAPP 0 genome.wustl.edu 37 14 34985626 34985626 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 34985626 34985626 C T SNP EAPP ENST00000250454 human ensembl 74_37 -1 known missense c.748 p.V250M 0.928 pfam_E2F-assoc_phosphoprotein pfam_E2F-assoc_phosphoprotein - no_errors EAPP HGNC ENSG00000129518 163 0 0 127 68 34.8718 NKX2-1 0 genome.wustl.edu 37 14 36987203 36987203 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 36987203 36987203 C T SNP NKX2-1 ENST00000354822 human ensembl 74_37 -1 known silent c.486 p.A162 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC ENSG00000136352 20 0 0 12 4 25 FSCB 0 genome.wustl.edu 37 14 44974717 44974717 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 44974717 44974717 G A SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1474 p.R492W 0.013 NULL NULL - no_errors FSCB HGNC ENSG00000189139 39 0 0 24 18 42.8571 FAM179B 0 genome.wustl.edu 37 14 45478141 45478141 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 45478141 45478141 G A SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.2930 p.R977H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 67 0 0 74 33 30.8411 TMX1 0 genome.wustl.edu 37 14 51710663 51710663 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 51710663 51710663 C T SNP TMX1 ENST00000457354 human ensembl 74_37 +1 known missense c.242 p.A81V 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX1 HGNC ENSG00000139921 27 0 0 34 15 30.6122 ATG14 0 genome.wustl.edu 37 14 55836420 55836420 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 55836420 55836420 C T SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known missense c.1396 p.A466T 0.487 NULL pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 63 0 0 52 20 27.7778 SYT16 0 genome.wustl.edu 37 14 62547711 62547711 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 62547711 62547711 G A SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1153 p.V385I 0.716 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 24 0 0 15 3 16.6667 SYNE2 0 genome.wustl.edu 37 14 64634309 64634309 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 64634309 64634309 T C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.16857 p.D5619 0.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 77 0 0 63 33 34.375 PLEK2 0 genome.wustl.edu 37 14 67862133 67862133 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 67862133 67862133 C T SNP PLEK2 ENST00000216446 human ensembl 74_37 -1 known silent c.375 p.P125 0.615 NULL pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK2 HGNC ENSG00000100558 47 0 0 32 12 27.2727 GALNT16 0 genome.wustl.edu 37 14 69795198 69795198 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 69795198 69795198 C T SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known silent c.600 p.D200 0.011 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 48 0 0 39 13 25 PCNX 0 genome.wustl.edu 37 14 71542931 71542931 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 71542931 71542931 C T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.5132 p.S1711L 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 88 0 0 80 29 26.6055 PAPLN 0 genome.wustl.edu 37 14 73729153 73729153 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 73729153 73729153 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.2341 p.R781C 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 22 0 0 13 8 38.0952 FAM161B 0 genome.wustl.edu 37 14 74413287 74413287 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 74413287 74413287 C T SNP FAM161B ENST00000286544 human ensembl 74_37 -1 known missense c.265 p.A89T 0.999 NULL pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 78 0 0 64 32 33.3333 YLPM1 0 genome.wustl.edu 37 14 75296006 75296006 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 75296006 75296006 A G SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.6254 p.D2085G 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 93 0 0 84 34 28.8136 DLST 0 genome.wustl.edu 37 14 75367834 75367834 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 75367834 75367834 C T SNP DLST ENST00000334220 human ensembl 74_37 +1 known silent c.1125 p.G375 0.001 pfam_2-oxoacid_DH_actylTfrase,tigrfam_SucB pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB - no_errors DLST HGNC ENSG00000119689 74 0 0 47 27 36.4865 BATF 0 genome.wustl.edu 37 14 76012944 76012944 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 76012944 76012944 C T SNP BATF ENST00000286639 human ensembl 74_37 +1 known missense c.308 p.P103L 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 32 0 0 21 7 25 TTLL5 0 genome.wustl.edu 37 14 76368503 76368503 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 76368503 76368503 G A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known silent c.3759 p.G1253 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 62 0 0 40 24 37.5 ESRRB 0 genome.wustl.edu 37 14 76928920 76928920 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 76928920 76928920 G A SNP ESRRB ENST00000380887 human ensembl 74_37 +1 known missense c.430 p.E144K 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 57 0 0 34 17 33.3333 ISM2 0 genome.wustl.edu 37 14 77942189 77942189 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 77942189 77942189 C T SNP ISM2 ENST00000342219 human ensembl 74_37 -1 known missense c.1465 p.A489T 0.986 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 ISM2 HGNC ENSG00000100593 35 0 0 16 6 27.2727 KCNK10 0 genome.wustl.edu 37 14 88729810 88729810 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 88729810 88729810 C T SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known silent c.138 p.P46 0.905 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 70 0 0 54 15 21.7391 TDP1 0 genome.wustl.edu 37 14 90509501 90509501 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 90509501 90509501 C A SNP TDP1 ENST00000555880 human ensembl 74_37 +1 novel missense c.1732 p.L578M 0.000 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 35 0 0 30 13 30.2326 TTC7B 0 genome.wustl.edu 37 14 91247111 91247111 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 91247111 91247111 C T SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.416 p.R139Q 0.998 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 44 0 0 46 21 31.3433 UNC79 0 genome.wustl.edu 37 14 94087971 94087971 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 94087971 94087971 A G SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.4458 p.E1486 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 76 0 0 51 26 33.7662 PPP4R4 0 genome.wustl.edu 37 14 94674876 94674876 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 94674876 94674876 G A SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known silent c.267 p.T89 0.990 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 40 0 0 34 13 27.6596 SERPINA12 0 genome.wustl.edu 37 14 94964713 94964713 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 94964713 94964713 C T SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known missense c.22 p.A8T 0.304 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 101 0 0 75 39 34.2105 SERPINA5 0 genome.wustl.edu 37 14 95053815 95053815 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 95053815 95053815 C T SNP SERPINA5 ENST00000329597 human ensembl 74_37 +1 known missense c.116 p.T39M 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA5 HGNC ENSG00000188488 49 0 0 28 13 31.7073 DNM1P46 0 genome.wustl.edu 37 15 100331866 100331866 + RNA SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 100331866 100331866 T C SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.972 - - - no_errors DNM1P46 HGNC ENSG00000182397 38 0 0 30 17 36.1702 ADAMTS17 0 genome.wustl.edu 37 15 100695507 100695507 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 100695507 100695507 G A SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known silent c.1200 p.D400 0.920 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,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 ADAMTS17 HGNC ENSG00000140470 29 0 0 24 8 25 ADAMTS17 0 genome.wustl.edu 37 15 100821466 100821466 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 100821466 100821466 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.757 p.A253T 0.995 pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,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 ADAMTS17 HGNC ENSG00000140470 77 0 0 38 18 32.1429 LRRK1 0 genome.wustl.edu 37 15 101588759 101588759 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 101588759 101588759 A C SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.3196 p.T1066P 0.977 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 123 0 0 106 56 34.5679 CHSY1 0 genome.wustl.edu 37 15 101717570 101717570 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 101717570 101717570 G A SNP CHSY1 ENST00000543813 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors CHSY1 HGNC ENSG00000131873 31 0 0 28 22 44 DNM1P47 0 genome.wustl.edu 37 15 102304883 102304883 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 102304883 102304883 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 42 0 0 35 17 32.6923 GOLGA6L2 0 genome.wustl.edu 37 15 23689630 23689630 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 23689630 23689630 C T SNP GOLGA6L2 ENST00000312015 human ensembl 74_37 -1 known silent c.231 p.A77 0.000 NULL prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 51 0 0 44 6 12 SNORD116-8 0 genome.wustl.edu 37 15 25315626 25315626 + RNA SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 25315626 25315626 C G SNP SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD116-8 HGNC ENSG00000207093 148 1 0.671141 119 37 23.7179 SNHG14 0 genome.wustl.edu 37 15 25488653 25488653 + RNA SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 25488653 25488653 G T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 51 0 0 30 29 49.1525 RYR3 0 genome.wustl.edu 37 15 34113561 34113561 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 34113561 34113561 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.10906 p.A3636T 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 26 0 0 27 16 37.2093 RYR3 0 genome.wustl.edu 37 15 34145278 34145278 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 34145278 34145278 T C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.13661 p.V4554A 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 26 0 0 17 16 48.4848 NUTM1 0 genome.wustl.edu 37 15 34649679 34649679 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 34649679 34649679 G A SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.3386 p.R1129H 0.014 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 85 0 0 80 22 21.5686 LPCAT4 0 genome.wustl.edu 37 15 34655878 34655878 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 34655878 34655878 C T SNP LPCAT4 ENST00000314891 human ensembl 74_37 -1 known missense c.695 p.R232H 0.987 smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 50 0 0 40 19 32.2034 INO80 0 genome.wustl.edu 37 15 41366688 41366688 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 41366688 41366688 G A SNP INO80 ENST00000361937 human ensembl 74_37 -1 known nonsense c.1207 p.R403* 1.000 NULL 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 INO80 HGNC ENSG00000128908 67 0 0 68 30 30.6122 LTK 0 genome.wustl.edu 37 15 41804949 41804949 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 41804949 41804949 C T SNP LTK ENST00000263800 human ensembl 74_37 -1 known silent c.315 p.L105 0.035 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 LTK HGNC ENSG00000062524 15 0 0 7 5 41.6667 MAPKBP1 0 genome.wustl.edu 37 15 42105236 42105236 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 42105236 42105236 G A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known silent c.756 p.T252 0.002 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 118 0 0 93 33 26.1905 CDAN1 0 genome.wustl.edu 37 15 43021275 43021275 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 43021275 43021275 C A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.2591 p.R864L 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 80 0 0 36 18 33.3333 LCMT2 0 genome.wustl.edu 37 15 43622232 43622232 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 43622232 43622232 G T SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known missense c.456 p.S152R 0.246 pfam_LCM_MeTrfase pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 40 0 0 37 7 15.9091 CKMT1B 0 genome.wustl.edu 37 15 43891410 43891410 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 43891410 43891410 G A SNP CKMT1B ENST00000300283 human ensembl 74_37 +1 known missense c.1193 p.R398Q 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT1B HGNC ENSG00000237289 113 0 0 89 38 29.9213 WDR76 0 genome.wustl.edu 37 15 44131849 44131849 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 44131849 44131849 C T SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known nonsense c.655 p.R219* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 119 0 0 127 20 13.6054 TRPM7 0 genome.wustl.edu 37 15 50901830 50901830 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 50901830 50901830 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.2528 p.R843Q 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 45 0 0 35 11 23.913 GLDN 0 genome.wustl.edu 37 15 51634199 51634199 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 51634199 51634199 C T SNP GLDN ENST00000335449 human ensembl 74_37 +1 known silent c.318 p.A106 0.016 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 50 0 0 34 15 30.6122 MYO5C 0 genome.wustl.edu 37 15 52510876 52510876 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 52510876 52510876 T C SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.3794 p.E1265G 0.263 NULL 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 38 0 0 27 9 25 UNC13C 0 genome.wustl.edu 37 15 54793039 54793039 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 54793039 54793039 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known nonsense c.5164 p.Q1722* 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 52 0 0 32 13 28.8889 PIGB 0 genome.wustl.edu 37 15 55626105 55626105 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 55626105 55626105 C T SNP PIGB ENST00000164305 human ensembl 74_37 +1 known missense c.694 p.R232C 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 29 0 0 24 3 11.1111 CGNL1 0 genome.wustl.edu 37 15 57810601 57810601 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 57810601 57810601 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.2621 p.R874Q 0.030 prints_Tropomyosin pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 31 0 0 23 11 32.3529 TLN2 0 genome.wustl.edu 37 15 63054564 63054564 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 63054564 63054564 A G SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.4873 p.N1625D 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 156 0 0 135 45 25 ZNF609 0 genome.wustl.edu 37 15 64966762 64966762 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 64966762 64966762 G A SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.1709 p.R570Q 0.988 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 79 0 0 72 34 32.0755 ITGA11 0 genome.wustl.edu 37 15 68623337 68623337 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 68623337 68623337 C A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.1883 p.G628V 1.000 smart_Int_alpha_beta-p 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 ITGA11 HGNC ENSG00000137809 24 0 0 9 6 40 MYO9A 0 genome.wustl.edu 37 15 72170488 72170488 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 72170488 72170488 G A SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.6037 p.R2013C 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 75 0 0 86 6 6.52174 PKM 0 genome.wustl.edu 37 15 72502148 72502148 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 72502148 72502148 A G SNP PKM ENST00000319622 human ensembl 74_37 -1 known missense c.431 p.L144P 0.988 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,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 PKM HGNC ENSG00000067225 161 0 0 141 9 6 PML 0 genome.wustl.edu 37 15 74315711 74315711 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 74315711 74315711 G A SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.1145 p.R382H 0.610 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 26 0 0 23 7 23.3333 ISLR2 0 genome.wustl.edu 37 15 74425791 74425791 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 74425791 74425791 G A SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.696 p.P232 0.995 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 30 0 0 20 14 41.1765 SIN3A 0 genome.wustl.edu 37 15 75692403 75692403 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 75692403 75692403 C T SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.1832 p.R611H 1.000 pfam_HDAC_interact,smart_HDAC_interact pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 129 0 0 92 41 30.8271 ENSG00000187812 0 genome.wustl.edu 37 15 76075484 76075484 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 76075484 76075484 C T SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 0.177 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 130 0 0 95 50 34.4828 LOC645752 0 genome.wustl.edu 37 15 78213901 78213901 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 78213901 78213901 C T SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.976 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 105 0 0 83 55 39.8551 IREB2 0 genome.wustl.edu 37 15 78780136 78780136 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 78780136 78780136 G A SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.1771 p.A591T 0.998 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 44 0 0 32 5 13.5135 RASGRF1 0 genome.wustl.edu 37 15 79356791 79356791 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 79356791 79356791 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.354 p.D118 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 110 0 0 74 37 33.3333 FAH 0 genome.wustl.edu 37 15 80452206 80452206 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 80452206 80452206 G A SNP FAH ENST00000261755 human ensembl 74_37 +1 known missense c.301 p.E101K 0.290 pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 23 0 0 20 11 35.4839 ADAMTSL3 0 genome.wustl.edu 37 15 84611672 84611672 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 84611672 84611672 C T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.2328 p.G776 0.026 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 61 0 0 48 3 5.88235 ALPK3 0 genome.wustl.edu 37 15 85410563 85410563 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 85410563 85410563 T A SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.5345 p.M1782K 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 55 0 0 50 24 32.4324 AKAP13 0 genome.wustl.edu 37 15 86189060 86189060 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 86189060 86189060 T C SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.4249 p.F1417L 0.991 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 93 0 0 67 23 25.5556 FES 0 genome.wustl.edu 37 15 91428314 91428314 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 91428314 91428314 C T SNP FES ENST00000328850 human ensembl 74_37 +1 known silent c.39 p.H13 0.985 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 108 0 0 99 48 32.6531 ZC3H7A 0 genome.wustl.edu 37 16 11868230 11868230 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 11868230 11868230 C T SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known silent c.765 p.L255 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 55 0 0 48 26 35.1351 UBE2I 0 genome.wustl.edu 37 16 1370217 1370217 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 1370217 1370217 C T SNP UBE2I ENST00000325437 human ensembl 74_37 +1 known missense c.266 p.S89L 0.988 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2I HGNC ENSG00000103275 53 0 0 39 14 26.4151 GNPTG 0 genome.wustl.edu 37 16 1412640 1412640 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 1412640 1412640 T G SNP GNPTG ENST00000204679 human ensembl 74_37 +1 known missense c.638 p.F213C 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC ENSG00000090581 64 0 0 42 18 30 PARN 0 genome.wustl.edu 37 16 14540788 14540788 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 14540788 14540788 C A SNP PARN ENST00000437198 human ensembl 74_37 -1 known missense c.1821 p.K607N 1.000 NULL pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 78 0 0 60 37 38.1443 IFT140 0 genome.wustl.edu 37 16 1574907 1574907 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 1574907 1574907 G A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.2875 p.R959W 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 20 0 0 13 5 27.7778 NUBP2 0 genome.wustl.edu 37 16 1837726 1837726 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 1837726 1837726 A G SNP NUBP2 ENST00000262302 human ensembl 74_37 +1 known missense c.383 p.Y128C 0.892 pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK,superfamily_P-loop_NTPase - no_errors NUBP2 HGNC ENSG00000095906 56 0 0 34 14 29.1667 PDILT 0 genome.wustl.edu 37 16 20373737 20373737 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 20373737 20373737 C T SNP PDILT ENST00000302451 human ensembl 74_37 -1 known missense c.1405 p.G469S 0.003 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 45 0 0 20 15 42.8571 IGSF6 0 genome.wustl.edu 37 16 21663892 21663892 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 21663892 21663892 C T SNP IGSF6 ENST00000268389 human ensembl 74_37 -1 known missense c.28 p.A10T 0.000 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF6 HGNC ENSG00000140749 104 0 0 70 44 38.5965 LUC7L 0 genome.wustl.edu 37 16 239997 239997 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 239997 239997 C T SNP LUC7L ENST00000293872 human ensembl 74_37 -1 known missense c.944 p.R315Q 1.000 NULL pfam_Luc7-rel - no_errors LUC7L HGNC ENSG00000007392 256 0 0 172 81 32.0158 TNRC6A 0 genome.wustl.edu 37 16 24817959 24817959 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 24817959 24817959 T C SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.4394 p.L1465S 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 109 0 0 62 36 36.7347 GTF3C1 0 genome.wustl.edu 37 16 27475926 27475926 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 27475926 27475926 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5587 p.R1863C 0.090 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 38 0 0 36 11 23.4043 PRSS41 0 genome.wustl.edu 37 16 2854915 2854915 + RNA SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 2854915 2854915 G T SNP PRSS41 ENST00000399677 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRSS41 HGNC ENSG00000215148 18 0 0 8 5 38.4615 ATXN2L 0 genome.wustl.edu 37 16 28846629 28846629 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 28846629 28846629 C G SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.2594 p.A865G 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 30 0 0 18 9 33.3333 SH2B1 0 genome.wustl.edu 37 16 28878130 28878130 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 28878130 28878130 G A SNP SH2B1 ENST00000322610 human ensembl 74_37 +1 known missense c.715 p.A239T 0.002 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 24 0 0 10 9 47.3684 RABEP2 0 genome.wustl.edu 37 16 28925566 28925566 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 28925566 28925566 C T SNP RABEP2 ENST00000358201 human ensembl 74_37 -1 known silent c.885 p.L295 0.983 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 17 0 0 16 5 23.8095 NFATC2IP 0 genome.wustl.edu 37 16 28970351 28970351 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 28970351 28970351 C T SNP NFATC2IP ENST00000320805 human ensembl 74_37 +1 known missense c.1031 p.T344M 0.000 NULL pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors NFATC2IP HGNC ENSG00000176953 40 0 0 38 6 13.6364 ITGAL 0 genome.wustl.edu 37 16 30507880 30507880 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 30507880 30507880 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.1825 p.V609M 0.417 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,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 48 0 0 31 19 38 SRCAP 0 genome.wustl.edu 37 16 30732518 30732518 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 30732518 30732518 T C SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.3262 p.S1088P 0.992 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 73 0 0 47 33 41.25 SRCAP 0 genome.wustl.edu 37 16 30744953 30744953 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 30744953 30744953 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.6328 p.R2110C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 74 0 0 51 25 32.8947 ZNF646 0 genome.wustl.edu 37 16 31088883 31088883 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 31088883 31088883 C T SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.1238 p.A413V 0.832 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 24 0 0 19 8 29.6296 ITGAX 0 genome.wustl.edu 37 16 31391664 31391664 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 31391664 31391664 C A SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.3138 p.T1046 0.713 NULL 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 ITGAX HGNC ENSG00000140678 22 0 0 27 12 30.7692 DNASE1 0 genome.wustl.edu 37 16 3706167 3706167 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 3706167 3706167 C T SNP DNASE1 ENST00000246949 human ensembl 74_37 +1 known missense c.301 p.R101C 1.000 pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I - no_errors DNASE1 HGNC ENSG00000213918 53 0 0 35 15 30 GLIS2 0 genome.wustl.edu 37 16 4384878 4384878 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 4384878 4384878 C G SNP GLIS2 ENST00000262366 human ensembl 74_37 +1 known missense c.422 p.A141G 0.854 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 36 0 0 27 18 40 CORO7-PAM16 0 genome.wustl.edu 37 16 4409582 4409582 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 4409582 4409582 G T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.2149 p.L717M 0.996 NULL pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 21 0 0 13 9 40.9091 ORC6 0 genome.wustl.edu 37 16 46731427 46731427 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 46731427 46731427 A G SNP ORC6 ENST00000219097 human ensembl 74_37 +1 known missense c.689 p.Q230R 0.961 NULL pfam_ORC6 - no_errors ORC6 HGNC ENSG00000091651 59 0 0 63 15 19.2308 ABCC12 0 genome.wustl.edu 37 16 48119514 48119514 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 48119514 48119514 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.3818 p.R1273H 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 89 0 0 74 32 30.1887 CBLN1 0 genome.wustl.edu 37 16 49315194 49315194 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 49315194 49315194 C A SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known missense c.183 p.K61N 1.000 superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 60 0 0 19 8 29.6296 PPL 0 genome.wustl.edu 37 16 4933690 4933690 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 4933690 4933690 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.4966 p.R1656C 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 31 0 0 14 10 41.6667 PAPD5 0 genome.wustl.edu 37 16 50263299 50263299 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 50263299 50263299 G A SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors PAPD5 HGNC ENSG00000121274 22 0 0 19 9 32.1429 CYLD 0 genome.wustl.edu 37 16 50815288 50815288 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 50815288 50815288 G A SNP CYLD ENST00000311559 human ensembl 74_37 +1 known silent c.1650 p.P550 0.028 superfamily_CAP-Gly_domain 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 59 0 0 37 17 31.4815 RPGRIP1L 0 genome.wustl.edu 37 16 53682940 53682940 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 53682940 53682940 C T SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.2240 p.R747Q 1.000 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 78 0 0 60 38 38.7755 IRX3 0 genome.wustl.edu 37 16 54318212 54318212 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 54318212 54318212 G A SNP IRX3 ENST00000329734 human ensembl 74_37 -1 known missense c.1397 p.A466V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX3 HGNC ENSG00000177508 35 0 0 30 8 21.0526 NLRC5 0 genome.wustl.edu 37 16 57060522 57060522 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 57060522 57060522 G A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.1667 p.G556D 0.001 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 74 0 0 56 25 30.8642 CPNE2 0 genome.wustl.edu 37 16 57181521 57181521 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 57181521 57181521 A G SNP CPNE2 ENST00000290776 human ensembl 74_37 +1 known missense c.1598 p.Q533R 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE2 HGNC ENSG00000140848 54 0 0 70 5 6.66667 PRSS54 0 genome.wustl.edu 37 16 58324964 58324964 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 58324964 58324964 C T SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known silent c.162 p.P54 0.926 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 - no_errors PRSS54 HGNC ENSG00000103023 57 0 0 47 7 12.963 CNOT1 0 genome.wustl.edu 37 16 58581500 58581500 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 58581500 58581500 T C SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.3609 p.T1203 0.994 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 42 0 0 49 16 24.6154 CNOT1 0 genome.wustl.edu 37 16 58581512 58581512 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 58581512 58581512 T C SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.3597 p.L1199 0.999 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 37 0 0 51 13 20.3125 CDH5 0 genome.wustl.edu 37 16 66436800 66436800 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 66436800 66436800 G A SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.2083 p.A695T 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 12 0 0 5 5 50 DYNC1LI2 0 genome.wustl.edu 37 16 66776564 66776564 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 66776564 66776564 C T SNP DYNC1LI2 ENST00000258198 human ensembl 74_37 -1 known silent c.306 p.T102 0.079 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI2 HGNC ENSG00000135720 26 0 0 34 3 8.10811 NAE1 0 genome.wustl.edu 37 16 66847501 66847501 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 66847501 66847501 C T SNP NAE1 ENST00000290810 human ensembl 74_37 -1 known missense c.1000 p.A334T 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors NAE1 HGNC ENSG00000159593 42 0 0 33 14 29.7872 FHOD1 0 genome.wustl.edu 37 16 67268086 67268086 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 67268086 67268086 G A SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known missense c.1520 p.A507V 0.467 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 57 0 0 35 12 25.5319 CDH1 0 genome.wustl.edu 37 16 68835713 68835713 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 68835713 68835713 G A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.304 p.A102T 0.768 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 77 0 0 54 24 30.7692 ZFHX3 0 genome.wustl.edu 37 16 72830135 72830135 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 72830135 72830135 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.6446 p.R2149H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 59 0 0 38 17 30.9091 ZFHX3 0 genome.wustl.edu 37 16 72984509 72984509 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 72984509 72984509 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.3075 p.N1025 0.731 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 57 0 0 27 15 35.7143 ZFHX3 0 genome.wustl.edu 37 16 72993351 72993351 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 72993351 72993351 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.694 p.R232C 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 111 0 0 92 50 35.2113 CHST5 0 genome.wustl.edu 37 16 75563418 75563418 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 75563418 75563418 G A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.883 p.R295C 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 42 0 0 32 10 23.8095 KARS 0 genome.wustl.edu 37 16 75669691 75669691 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 75669691 75669691 G A SNP KARS ENST00000319410 human ensembl 74_37 -1 known missense c.766 p.R256C 1.000 pfam_aa-tRNA-synt_II,tigrfam_Lys-tRNA-ligase_II pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II - no_errors KARS HGNC ENSG00000065427 81 0 0 53 31 36.9048 ADAMTS18 0 genome.wustl.edu 37 16 77369762 77369762 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 77369762 77369762 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.1750 p.G584R 1.000 NULL 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 143 0 0 59 45 43.2692 OSGIN1 0 genome.wustl.edu 37 16 83994222 83994222 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 83994222 83994222 G A SNP OSGIN1 ENST00000361711 human ensembl 74_37 +1 known missense c.253 p.V85M 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors OSGIN1 HGNC ENSG00000140961 47 0 0 35 18 33.9623 MBTPS1 0 genome.wustl.edu 37 16 84088130 84088130 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 84088130 84088130 G A SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.3083 p.P1028L 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 19 0 0 27 11 28.9474 MBTPS1 0 genome.wustl.edu 37 16 84100196 84100196 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 84100196 84100196 C T SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.2251 p.G751R 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 44 0 0 38 14 26.9231 FOXF1 0 genome.wustl.edu 37 16 86544392 86544392 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 86544392 86544392 G A SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.217 p.E73K 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 FOXF1 HGNC ENSG00000103241 60 0 0 37 32 46.3768 ANKRD11 0 genome.wustl.edu 37 16 89351372 89351372 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 89351372 89351372 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.1578 p.H526 0.559 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 33 0 0 34 13 27.6596 MYH8 0 genome.wustl.edu 37 17 10303844 10303844 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 10303844 10303844 C T SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.3598 p.A1200T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 80 0 0 68 31 31.3131 DNAH9 0 genome.wustl.edu 37 17 11713626 11713626 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 11713626 11713626 A G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.8647 p.T2883A 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 73 0 0 53 24 31.1688 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 67 0 0 93 34 26.7717 LLGL1 0 genome.wustl.edu 37 17 18140896 18140896 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 18140896 18140896 C T SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known silent c.1713 p.H571 0.877 superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 27 0 0 28 12 30 LLGL1 0 genome.wustl.edu 37 17 18140961 18140961 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 18140961 18140961 T C SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.1778 p.V593A 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 13 0 0 16 7 30.4348 EVPLL 0 genome.wustl.edu 37 17 18286145 18286145 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 18286145 18286145 C T SNP EVPLL ENST00000399134 human ensembl 74_37 +1 novel missense c.478 p.R160C 0.097 NULL NULL - no_errors EVPLL HGNC ENSG00000214860 15 0 0 8 9 52.9412 KCNJ12 0 genome.wustl.edu 37 17 21318995 21318995 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 21318995 21318995 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.341 p.P114L 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 35 0 0 44 6 12 ENSG00000266830 0 genome.wustl.edu 37 17 26574873 26574873 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 26574873 26574873 C T SNP ENSG00000266830 ENST00000579045 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CTD-2008P7.8 Clone_based_vega_gene ENSG00000266830 9 0 0 1 3 75 ALDOC 0 genome.wustl.edu 37 17 26902512 26902512 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 26902512 26902512 C T SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known silent c.39 p.K13 1.000 NULL pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 43 0 0 44 24 35.2941 KIAA0100 0 genome.wustl.edu 37 17 26958520 26958520 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 26958520 26958520 G A SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.4276 p.H1426Y 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 27 0 0 31 11 26.1905 ENSG00000214719 0 genome.wustl.edu 37 17 28958830 28958830 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 28958830 28958830 G A SNP ENSG00000214719 ENST00000398849 human ensembl 74_37 +1 known rna NULL NULL 0.819 - - - no_errors AC005562.1 Clone_based_vega_gene ENSG00000214719 168 0 0 124 64 34.0426 NF1 0 genome.wustl.edu 37 17 29556992 29556992 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 29556992 29556992 G T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.2990 p.R997M 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 121 0 0 92 31 25.2033 TMEM132E 0 genome.wustl.edu 37 17 32956140 32956140 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 32956140 32956140 G T SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.985 p.G329C 0.045 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 58 0 0 39 19 32.7586 SLFN5 0 genome.wustl.edu 37 17 33586176 33586176 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 33586176 33586176 A C SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.467 p.Q156P 0.002 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 107 0 0 86 37 30.0813 CCL15 0 genome.wustl.edu 37 17 34324855 34324855 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 34324855 34324855 C A SNP CCL15 ENST00000354059 human ensembl 74_37 -1 known missense c.290 p.S97I 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL15 HGNC ENSG00000267596 38 0 0 28 12 30 SYNRG 0 genome.wustl.edu 37 17 35902366 35902366 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 35902366 35902366 C T SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known silent c.2910 p.T970 0.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 92 0 0 54 23 29.8701 LOC101929950 0 genome.wustl.edu 37 17 36359005 36359005 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 36359005 36359005 T C SNP LOC101929950 ENST00000312412 human ensembl 74_37 -1 known missense c.686 p.N229S 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors RP11-1407O15.2 Clone_based_vega_gene ENSG00000174093 160 0 0 158 20 11.236 C17orf98 0 genome.wustl.edu 37 17 36997563 36997563 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 36997563 36997563 C T SNP C17orf98 ENST00000398575 human ensembl 74_37 -1 known missense c.80 p.R27H 0.152 NULL NULL - no_errors C17orf98 HGNC ENSG00000214556 29 0 0 20 12 37.5 CAMKK1 0 genome.wustl.edu 37 17 3786397 3786397 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 3786397 3786397 A G SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known missense c.587 p.V196A 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 CAMKK1 HGNC ENSG00000004660 43 0 0 25 14 35.8974 NR1D1 0 genome.wustl.edu 37 17 38253490 38253490 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 38253490 38253490 G A SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known silent c.198 p.R66 0.999 NULL 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 36 0 0 28 4 12.5 KRT27 0 genome.wustl.edu 37 17 38936090 38936090 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 38936090 38936090 C A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.708 p.A236 0.001 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 55 0 0 29 12 29.2683 KRT12 0 genome.wustl.edu 37 17 39021080 39021080 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 39021080 39021080 T C SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.785 p.Y262C 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 105 0 0 79 36 31.3043 ZZEF1 0 genome.wustl.edu 37 17 3926101 3926101 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 3926101 3926101 G A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.7114 p.R2372C 1.000 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 60 0 0 46 20 30.303 JUP 0 genome.wustl.edu 37 17 39776936 39776936 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 39776936 39776936 G A SNP JUP ENST00000540235 human ensembl 74_37 -1 known missense c.1633 p.R545C 1.000 pfam_IF 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 44 0 0 37 19 33.9286 NAGLU 0 genome.wustl.edu 37 17 40695811 40695811 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 40695811 40695811 G A SNP NAGLU ENST00000225927 human ensembl 74_37 +1 known missense c.1787 p.G596D 0.994 pfam_NAGLU_tim-barrel pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 11 0 0 13 4 23.5294 PSMC3IP 0 genome.wustl.edu 37 17 40725006 40725006 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 40725006 40725006 C T SNP PSMC3IP ENST00000393795 human ensembl 74_37 -1 known missense c.634 p.V212I 0.962 NULL pfam_TBPIP,pfam_BlaI_family - no_errors PSMC3IP HGNC ENSG00000131470 69 0 0 50 29 36.7089 AOC3 0 genome.wustl.edu 37 17 41003976 41003976 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 41003976 41003976 C T SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.616 p.R206W 0.000 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 32 0 0 18 11 37.931 MPP2 0 genome.wustl.edu 37 17 41959879 41959879 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 41959879 41959879 C A SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.526 p.G176C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 29 0 0 22 13 37.1429 MPP2 0 genome.wustl.edu 37 17 41975706 41975706 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 41975706 41975706 G A SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.74 p.A25V 1.000 pfam_L27_C,smart_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 30 0 0 30 22 42.3077 GPATCH8 0 genome.wustl.edu 37 17 42475277 42475277 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 42475277 42475277 C T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.4168 p.A1390T 0.996 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 34 0 0 16 12 42.8571 MYBBP1A 0 genome.wustl.edu 37 17 4448573 4448573 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 4448573 4448573 C T SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.2141 p.R714Q 0.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 51 0 0 40 20 33.3333 NFE2L1 0 genome.wustl.edu 37 17 46136768 46136768 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 46136768 46136768 G A SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known missense c.2084 p.R695Q 0.058 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 41 0 0 39 25 39.0625 HOXB13 0 genome.wustl.edu 37 17 46805700 46805700 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 46805700 46805700 C T SNP HOXB13 ENST00000290295 human ensembl 74_37 -1 known missense c.256 p.G86R 1.000 pfam_HoxA13_N pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 56 0 0 29 15 34.0909 NGFR 0 genome.wustl.edu 37 17 47583941 47583941 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 47583941 47583941 G A SNP NGFR ENST00000172229 human ensembl 74_37 +1 known silent c.489 p.P163 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 8 0 0 8 11 57.8947 KAT7 0 genome.wustl.edu 37 17 47869286 47869286 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 47869286 47869286 C T SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known silent c.54 p.S18 1.000 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 121 0 0 97 50 34.0136 ITGA3 0 genome.wustl.edu 37 17 48166496 48166496 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 48166496 48166496 G A SNP ITGA3 ENST00000007722 human ensembl 74_37 +1 novel missense c.3068 p.R1023H 0.029 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 354 0 0 266 141 34.6437 CACNA1G 0 genome.wustl.edu 37 17 48668860 48668860 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 48668860 48668860 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.2518 p.R840C 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 16 0 0 15 6 28.5714 USP6 0 genome.wustl.edu 37 17 5041042 5041042 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 5041042 5041042 C T SNP USP6 ENST00000250066 human ensembl 74_37 +1 known nonsense c.922 p.Q308* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 122 0 0 74 32 30.1887 GDPD1 0 genome.wustl.edu 37 17 57351092 57351092 + Nonsense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 57351092 57351092 T A SNP GDPD1 ENST00000284116 human ensembl 74_37 +1 known nonsense c.903 p.Y301* 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 36 0 0 36 15 29.4118 TACO1 0 genome.wustl.edu 37 17 61685281 61685281 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 61685281 61685281 C T SNP TACO1 ENST00000258975 human ensembl 74_37 +1 known silent c.813 p.P271 0.000 pfam_Transcrip_reg_TACO1-like pfam_Transcrip_reg_TACO1-like - no_errors TACO1 HGNC ENSG00000136463 65 0 0 52 18 25.7143 FTSJ3 0 genome.wustl.edu 37 17 61897300 61897300 + Silent SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 61897300 61897300 T A SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known silent c.2406 p.V802 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 96 0 0 58 27 31.7647 CEP95 0 genome.wustl.edu 37 17 62527046 62527046 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 62527046 62527046 G A SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known silent c.1449 p.A483 0.043 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 9 0 0 4 5 55.5556 CACNG4 0 genome.wustl.edu 37 17 65027085 65027085 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 65027085 65027085 G A SNP CACNG4 ENST00000262138 human ensembl 74_37 +1 known missense c.949 p.V317I 0.705 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG4 HGNC ENSG00000075461 60 0 0 37 26 41.2698 ARSG 0 genome.wustl.edu 37 17 66391298 66391298 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 66391298 66391298 C T SNP ARSG ENST00000448504 human ensembl 74_37 +1 known silent c.1176 p.S392 0.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 56 0 0 59 7 10.6061 CLEC10A 0 genome.wustl.edu 37 17 6978516 6978516 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 6978516 6978516 C T SNP CLEC10A ENST00000254868 human ensembl 74_37 -1 known missense c.808 p.D270N 0.156 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC10A HGNC ENSG00000132514 33 0 0 24 15 38.4615 DLG4 0 genome.wustl.edu 37 17 7106649 7106649 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 7106649 7106649 C T SNP DLG4 ENST00000399510 human ensembl 74_37 -1 known splice_site c.635-1 e9-1 1.000 - - - no_errors DLG4 HGNC ENSG00000132535 28 0 0 23 17 42.5 CD300E 0 genome.wustl.edu 37 17 72613483 72613483 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 72613483 72613483 G A SNP CD300E ENST00000426295 human ensembl 74_37 -1 known silent c.285 p.Y95 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300E HGNC ENSG00000186407 60 0 0 59 27 31.3953 TMEM104 0 genome.wustl.edu 37 17 72832455 72832455 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 72832455 72832455 G A SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.1120 p.V374M 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 146 0 0 101 64 38.7879 GGA3 0 genome.wustl.edu 37 17 73239539 73239539 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 73239539 73239539 A G SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.413 p.L138P 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS 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 84 0 0 74 35 32.1101 SLC35G6 0 genome.wustl.edu 37 17 7386241 7386241 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 7386241 7386241 C T SNP SLC35G6 ENST00000412468 human ensembl 74_37 +1 known missense c.938 p.A313V 0.992 pfam_DMT pfam_DMT - no_errors SLC35G6 HGNC ENSG00000259224 116 0 0 110 7 5.98291 EVPL 0 genome.wustl.edu 37 17 74005351 74005351 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 74005351 74005351 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.3935 p.T1312M 0.991 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 125 0 0 97 42 30.2158 EVPL 0 genome.wustl.edu 37 17 74005498 74005498 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 74005498 74005498 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.3788 p.S1263N 1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 76 0 0 48 24 33.3333 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 31 0 0 17 3 15 CCDC40 0 genome.wustl.edu 37 17 78023975 78023975 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 78023975 78023975 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1052 p.R351H 0.258 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 11 0 0 12 9 42.8571 CHD3 0 genome.wustl.edu 37 17 7810789 7810789 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 7810789 7810789 G T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.4907 p.G1636V 0.724 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 21 0 0 26 5 16.129 RNF213 0 genome.wustl.edu 37 17 78313974 78313974 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 78313974 78313974 A G SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.5807 p.H1936R 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 29 0 0 22 7 24.1379 BAIAP2 0 genome.wustl.edu 37 17 79077502 79077502 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 79077502 79077502 C T SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known silent c.843 p.P281 0.007 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 20 0 0 14 7 33.3333 ALOX12B 0 genome.wustl.edu 37 17 7978911 7978911 + Splice_Site SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 7978911 7978911 A G SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known splice_site c.1654+2 e12+2 1.000 - - - no_errors ALOX12B HGNC ENSG00000179477 83 0 0 86 39 31.2 GPS1 0 genome.wustl.edu 37 17 80012391 80012391 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 80012391 80012391 T C SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known missense c.434 p.L145P 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 13 0 0 6 2 25 FOXK2 0 genome.wustl.edu 37 17 80521332 80521332 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 80521332 80521332 C T SNP FOXK2 ENST00000335255 human ensembl 74_37 +1 known silent c.522 p.A174 0.169 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK2 HGNC ENSG00000141568 72 0 0 49 15 23.4375 FN3K 0 genome.wustl.edu 37 17 80708606 80708606 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 80708606 80708606 G A SNP FN3K ENST00000300784 human ensembl 74_37 +1 known missense c.905 p.G302D 0.985 pfam_Fructo-/Ketosamine-3-kinase,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC ENSG00000167363 73 0 0 35 28 44.4444 TMEM107 0 genome.wustl.edu 37 17 8077915 8077915 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 8077915 8077915 A G SNP TMEM107 ENST00000316425 human ensembl 74_37 -1 known silent c.294 p.S98 1.000 NULL NULL - no_errors TMEM107 HGNC ENSG00000179029 260 0 0 183 102 35.7895 MYH10 0 genome.wustl.edu 37 17 8393780 8393780 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 8393780 8393780 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.4732 p.A1578T 1.000 pfam_Myosin_tail,superfamily_Prefoldin 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 121 0 0 89 35 28.2258 WDR16 0 genome.wustl.edu 37 17 9515631 9515631 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 9515631 9515631 T A SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known missense c.890 p.I297N 0.985 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 82 0 0 53 27 33.75 NAPG 0 genome.wustl.edu 37 18 10532792 10532792 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 10532792 10532792 C T SNP NAPG ENST00000322897 human ensembl 74_37 +1 known missense c.209 p.A70V 1.000 NULL NULL - no_errors NAPG HGNC ENSG00000134265 9 0 0 7 5 41.6667 GREB1L 0 genome.wustl.edu 37 18 19024325 19024325 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 19024325 19024325 G A SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known missense c.1348 p.V450M 0.999 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 24 0 0 18 5 21.7391 SNRPD1 0 genome.wustl.edu 37 18 19203788 19203788 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 19203788 19203788 G A SNP SNRPD1 ENST00000300413 human ensembl 74_37 +1 known silent c.171 p.T57 0.979 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD1 HGNC ENSG00000167088 77 0 0 52 31 37.3494 ASXL3 0 genome.wustl.edu 37 18 31323629 31323629 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 31323629 31323629 A G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3817 p.T1273A 0.996 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 65 0 0 54 18 25 ASXL3 0 genome.wustl.edu 37 18 31325578 31325578 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 31325578 31325578 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.5766 p.D1922 0.004 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 70 0 0 72 47 39.4958 DLGAP1 0 genome.wustl.edu 37 18 3879216 3879216 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 3879216 3879216 C T SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.853 p.V285M 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 52 0 0 34 23 40.3509 EPG5 0 genome.wustl.edu 37 18 43446902 43446902 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 43446902 43446902 T C SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.6482 p.Y2161C 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 87 0 0 69 35 33.6538 ST8SIA5 0 genome.wustl.edu 37 18 44336460 44336460 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 44336460 44336460 C T SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known silent c.12 p.A4 0.936 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 32 0 0 29 7 19.4444 ME2 0 genome.wustl.edu 37 18 48473717 48473717 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 48473717 48473717 G A SNP ME2 ENST00000585680 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ME2 HGNC ENSG00000082212 12 0 0 3 2 40 POLI 0 genome.wustl.edu 37 18 51820306 51820306 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 51820306 51820306 C A SNP POLI ENST00000579534 human ensembl 74_37 +1 known silent c.1692 p.A564 0.724 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLI HGNC ENSG00000101751 37 0 0 29 20 40.8163 WDR7 0 genome.wustl.edu 37 18 54339760 54339760 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 54339760 54339760 G T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.14 p.S5I 1.000 smart_WD40_repeat pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 56 0 0 36 27 42.8571 WDR7 0 genome.wustl.edu 37 18 54358513 54358513 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 54358513 54358513 G T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.784 p.G262W 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 76 0 0 69 31 31 WDR7 0 genome.wustl.edu 37 18 54424292 54424292 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 54424292 54424292 G A SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.2468 p.R823H 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 139 1 0.714286 162 22 11.9565 WDR7 0 genome.wustl.edu 37 18 54424475 54424475 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 54424475 54424475 G A SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.2651 p.R884H 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 82 0 0 65 9 12.1622 CDH20 0 genome.wustl.edu 37 18 59221656 59221656 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 59221656 59221656 G A SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.2134 p.V712M 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 26 0 0 21 7 25 RNF152 0 genome.wustl.edu 37 18 59483442 59483442 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 59483442 59483442 G A SNP RNF152 ENST00000312828 human ensembl 74_37 -1 known silent c.255 p.S85 0.140 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC ENSG00000176641 41 0 0 29 17 36.9565 PHLPP1 0 genome.wustl.edu 37 18 60645690 60645690 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 60645690 60645690 G A SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.4180 p.D1394N 0.998 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 11 0 0 9 7 43.75 TSHZ1 0 genome.wustl.edu 37 18 72999537 72999537 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 72999537 72999537 C T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.2175 p.N725 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 66 0 0 51 22 30.137 ZNF516 0 genome.wustl.edu 37 18 74091754 74091754 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 74091754 74091754 G A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known silent c.2316 p.P772 0.999 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 13 0 0 11 12 52.1739 TXNDC2 0 genome.wustl.edu 37 18 9887885 9887885 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 9887885 9887885 T C SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known missense c.1409 p.L470P 0.892 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 51 0 0 28 19 40.4255 TMEM259 0 genome.wustl.edu 37 19 1010455 1010455 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 1010455 1010455 G A SNP TMEM259 ENST00000356663 human ensembl 74_37 -1 known missense c.1757 p.P586L 0.003 NULL pfam_Membralin - no_errors TMEM259 HGNC ENSG00000182087 8 0 0 4 4 50 COL5A3 0 genome.wustl.edu 37 19 10114729 10114729 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 10114729 10114729 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.687 p.P229 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 53 0 0 40 25 38.4615 TMED1 0 genome.wustl.edu 37 19 10943787 10943787 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 10943787 10943787 A C SNP TMED1 ENST00000214869 human ensembl 74_37 -1 known missense c.568 p.L190V 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED1 HGNC ENSG00000099203 48 0 0 36 18 33.3333 ZNF440 0 genome.wustl.edu 37 19 11942182 11942182 + Splice_Site SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 11942182 11942182 G A SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known splice_site c.192-1 e4-1 0.002 - - - no_errors ZNF440 HGNC ENSG00000171295 77 0 0 66 28 29.7872 ZNF709 0 genome.wustl.edu 37 19 12574828 12574828 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 12574828 12574828 T A SNP ZNF709 ENST00000397732 human ensembl 74_37 -1 known missense c.1908 p.R636S 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF709 HGNC ENSG00000242852 122 0 0 96 51 34.6939 MAST1 0 genome.wustl.edu 37 19 12963047 12963047 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 12963047 12963047 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.995 p.R332H 0.996 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 53 0 0 43 18 29.5082 NFIX 0 genome.wustl.edu 37 19 13192651 13192651 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 13192651 13192651 G A SNP NFIX ENST00000585575 human ensembl 74_37 +1 known silent c.1212 p.S404 0.257 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 29 0 0 17 10 37.037 TRMT1 0 genome.wustl.edu 37 19 13223783 13223783 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 13223783 13223783 G A SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known silent c.684 p.D228 0.832 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 33 0 0 43 5 10.4167 DAZAP1 0 genome.wustl.edu 37 19 1428885 1428885 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 1428885 1428885 G A SNP DAZAP1 ENST00000233078 human ensembl 74_37 +1 known silent c.591 p.A197 0.758 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 28 0 0 23 10 30.303 OR1I1 0 genome.wustl.edu 37 19 15198125 15198125 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 15198125 15198125 G A SNP OR1I1 ENST00000209540 human ensembl 74_37 +1 known silent c.249 p.A83 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1I1 HGNC ENSG00000094661 45 0 0 40 20 33.3333 CYP4F12 0 genome.wustl.edu 37 19 15806782 15806782 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 15806782 15806782 C T SNP CYP4F12 ENST00000324632 human ensembl 74_37 +1 known silent c.1152 p.C384 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_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 92 0 0 57 36 38.7097 EPS15L1 0 genome.wustl.edu 37 19 16535966 16535966 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 16535966 16535966 C T SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known silent c.720 p.P240 0.008 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 30 0 0 21 12 36.3636 NWD1 0 genome.wustl.edu 37 19 16918583 16918583 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 16918583 16918583 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.3923 p.S1308N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 76 0 0 43 16 27.1186 FCHO1 0 genome.wustl.edu 37 19 17893892 17893892 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 17893892 17893892 C T SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known silent c.2004 p.S668 0.939 pfam_Muniscin_C-term_mu_dom pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 50 0 0 54 6 10 LSM4 0 genome.wustl.edu 37 19 18420588 18420588 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 18420588 18420588 G A SNP LSM4 ENST00000593829 human ensembl 74_37 -1 known silent c.228 p.I76 0.955 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM4 HGNC ENSG00000130520 30 0 0 23 5 17.8571 TMEM161A 0 genome.wustl.edu 37 19 19240983 19240983 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 19240983 19240983 C T SNP TMEM161A ENST00000162044 human ensembl 74_37 -1 known missense c.577 p.E193K 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161A HGNC ENSG00000064545 27 0 0 33 5 13.1579 SUGP1 0 genome.wustl.edu 37 19 19391027 19391027 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 19391027 19391027 G A SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known silent c.1317 p.D439 0.719 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 67 0 0 52 31 37.3494 MOB3A 0 genome.wustl.edu 37 19 2076887 2076887 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 2076887 2076887 C T SNP MOB3A ENST00000357066 human ensembl 74_37 -1 known missense c.547 p.V183M 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3A HGNC ENSG00000172081 48 0 0 44 21 32.3077 ZNF208 0 genome.wustl.edu 37 19 22154680 22154680 + Silent SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 22154680 22154680 A C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel silent c.3156 p.A1052 0.954 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 120 0 0 110 52 32.0988 ZNF676 0 genome.wustl.edu 37 19 22363176 22363176 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 22363176 22363176 G C SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1343 p.P448R 0.967 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 113 0 0 91 29 24.1667 TSHZ3 0 genome.wustl.edu 37 19 31769550 31769550 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 31769550 31769550 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.1149 p.S383 0.087 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 122 0 0 78 33 29.7297 RHPN2 0 genome.wustl.edu 37 19 33482843 33482843 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 33482843 33482843 C T SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known silent c.1530 p.R510 1.000 pfam_BRO1_dom,superfamily_PDZ pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 73 0 0 68 9 11.6883 GPI 0 genome.wustl.edu 37 19 34890536 34890536 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 34890536 34890536 G A SNP GPI ENST00000415930 human ensembl 74_37 +1 known missense c.1507 p.A503T 1.000 pfam_G6P_Isomerase,prints_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 105 0 0 88 36 29.0323 GRAMD1A 0 genome.wustl.edu 37 19 35514240 35514240 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 35514240 35514240 G A SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known missense c.1954 p.A652T 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 214 1 0.465116 174 70 28.6885 USF2 0 genome.wustl.edu 37 19 35761384 35761384 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 35761384 35761384 G A SNP USF2 ENST00000222305 human ensembl 74_37 +1 known missense c.464 p.S155N 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF2 HGNC ENSG00000105698 53 0 0 46 3 6.12245 USF2 0 genome.wustl.edu 37 19 35761690 35761690 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 35761690 35761690 G A SNP USF2 ENST00000222305 human ensembl 74_37 +1 known missense c.650 p.R217Q 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF2 HGNC ENSG00000105698 80 0 0 75 19 20.2128 CD22 0 genome.wustl.edu 37 19 35828791 35828791 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 35828791 35828791 C A SNP CD22 ENST00000085219 human ensembl 74_37 +1 known silent c.852 p.T284 0.000 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 51 0 0 36 13 26.5306 CACTIN 0 genome.wustl.edu 37 19 3612132 3612132 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 3612132 3612132 C T SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.1862 p.R621H 1.000 pfam_Cactin_C pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 128 0 0 84 49 36.8421 KMT2B 0 genome.wustl.edu 37 19 36223276 36223276 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 36223276 36223276 C A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.5826 p.P1942 1.000 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 17 0 0 10 8 44.4444 NFKBID 0 genome.wustl.edu 37 19 36387021 36387021 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 36387021 36387021 G A SNP NFKBID ENST00000352614 human ensembl 74_37 -1 known missense c.923 p.P308L 0.997 superfamily_Ankyrin_rpt-contain_dom,smart_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 NFKBID HGNC ENSG00000167604 63 0 0 31 12 27.907 PIP5K1C 0 genome.wustl.edu 37 19 3641788 3641788 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 3641788 3641788 C T SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known missense c.1702 p.A568T 0.063 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 30 0 0 20 14 41.1765 CLIP3 0 genome.wustl.edu 37 19 36508783 36508783 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 36508783 36508783 C T SNP CLIP3 ENST00000360535 human ensembl 74_37 -1 known missense c.1294 p.V432M 0.930 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 93 0 0 54 30 35.7143 PIP5K1C 0 genome.wustl.edu 37 19 3653507 3653507 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 3653507 3653507 G A SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.702 p.R234 0.956 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 45 0 0 36 19 34.5455 TJP3 0 genome.wustl.edu 37 19 3736172 3736172 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 3736172 3736172 C T SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known silent c.1236 p.P412 0.003 superfamily_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 46 0 0 42 15 26.3158 ZNF568 0 genome.wustl.edu 37 19 37441545 37441545 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 37441545 37441545 C T SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.1490 p.T497M 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 92 0 0 56 32 36.3636 ZNF527 0 genome.wustl.edu 37 19 37879380 37879380 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 37879380 37879380 G A SNP ZNF527 ENST00000436120 human ensembl 74_37 +1 known silent c.429 p.A143 0.177 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 ZNF527 HGNC ENSG00000189164 83 0 0 60 16 21.0526 ZFR2 0 genome.wustl.edu 37 19 3831668 3831668 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 3831668 3831668 G A SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.588 p.T196 0.000 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 11 0 0 7 6 46.1538 YIF1B 0 genome.wustl.edu 37 19 38798088 38798088 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 38798088 38798088 C T SNP YIF1B ENST00000339413 human ensembl 74_37 -1 known missense c.769 p.V257I 0.009 pfam_Hrf1,pfam_Yip1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1B HGNC ENSG00000167645 21 0 0 33 16 32.6531 PSMD8 0 genome.wustl.edu 37 19 38873894 38873894 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 38873894 38873894 G A SNP PSMD8 ENST00000215071 human ensembl 74_37 +1 known missense c.917 p.R306Q 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors PSMD8 HGNC ENSG00000099341 29 0 0 20 8 28.5714 RYR1 0 genome.wustl.edu 37 19 39068584 39068584 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 39068584 39068584 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.14199 p.Y4733 0.902 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 67 0 0 41 27 39.7059 PSMC4 0 genome.wustl.edu 37 19 40485741 40485741 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 40485741 40485741 G A SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known missense c.691 p.V231M 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 97 0 0 62 28 31.1111 AKT2 0 genome.wustl.edu 37 19 40747883 40747883 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 40747883 40747883 C T SNP AKT2 ENST00000392038 human ensembl 74_37 -1 known missense c.535 p.A179T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT2 HGNC ENSG00000105221 49 0 0 49 17 25.7576 C19orf47 0 genome.wustl.edu 37 19 40834366 40834366 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 40834366 40834366 C T SNP C19orf47 ENST00000582783 human ensembl 74_37 -1 known silent c.504 p.S168 0.000 NULL superfamily_SAM/pointed - no_errors C19orf47 HGNC ENSG00000160392 157 0 0 140 23 14.1104 SHKBP1 0 genome.wustl.edu 37 19 41083184 41083184 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 41083184 41083184 T C SNP SHKBP1 ENST00000291842 human ensembl 74_37 +1 known missense c.134 p.F45S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 62 0 0 60 4 6.25 LTBP4 0 genome.wustl.edu 37 19 41135394 41135394 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 41135394 41135394 G A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.4811 p.R1604H 0.113 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 21 0 0 7 7 50 CYP2S1 0 genome.wustl.edu 37 19 41709424 41709424 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 41709424 41709424 G A SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.1046 p.R349H 0.579 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-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 13 0 0 5 5 50 CCDC97 0 genome.wustl.edu 37 19 41822537 41822537 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 41822537 41822537 C T SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known silent c.295 p.L99 1.000 NULL pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 40 0 0 20 15 42.8571 ERF 0 genome.wustl.edu 37 19 42752741 42752741 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 42752741 42752741 C A SNP ERF ENST00000222329 human ensembl 74_37 -1 known missense c.1523 p.G508V 0.715 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 30 0 0 20 12 37.5 PSG5 0 genome.wustl.edu 37 19 43680089 43680089 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 43680089 43680089 G T SNP PSG5 ENST00000342951 human ensembl 74_37 -1 known silent c.642 p.P214 0.992 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 188 1 0.529101 125 76 37.8109 XRCC1 0 genome.wustl.edu 37 19 44048331 44048331 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 44048331 44048331 C T SNP XRCC1 ENST00000262887 human ensembl 74_37 -1 known silent c.1677 p.R559 0.712 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 21 0 0 17 8 32 CADM4 0 genome.wustl.edu 37 19 44131398 44131398 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 44131398 44131398 C T SNP CADM4 ENST00000222374 human ensembl 74_37 -1 known missense c.284 p.R95H 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM4 HGNC ENSG00000105767 54 0 0 33 25 43.1034 IRGC 0 genome.wustl.edu 37 19 44223276 44223276 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 44223276 44223276 C T SNP IRGC ENST00000244314 human ensembl 74_37 +1 known missense c.566 p.A189V 0.000 pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 33 0 0 13 6 31.5789 ZNF226 0 genome.wustl.edu 37 19 44676240 44676240 + Splice_Site SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 44676240 44676240 G T SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known splice_site c.16-1 e2-1 1.000 - - - no_errors ZNF226 HGNC ENSG00000167380 122 0 0 86 40 31.746 PLIN4 0 genome.wustl.edu 37 19 4512339 4512339 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 4512339 4512339 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.1591 p.V531M 0.011 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 104 0 0 78 44 36.0656 CLPTM1 0 genome.wustl.edu 37 19 45490450 45490450 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 45490450 45490450 C T SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known silent c.807 p.D269 0.983 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 109 0 0 84 33 28.2051 SEMA6B 0 genome.wustl.edu 37 19 4550844 4550844 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 4550844 4550844 G A SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known missense c.1088 p.T363M 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 58 0 0 31 22 41.5094 SEMA6B 0 genome.wustl.edu 37 19 4554436 4554436 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 4554436 4554436 G T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known missense c.735 p.F245L 1.000 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 60 0 0 43 19 30.6452 ERCC2 0 genome.wustl.edu 37 19 45855905 45855905 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 45855905 45855905 C T SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known silent c.1905 p.A635 0.000 superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 47 0 0 28 20 41.6667 FOXA3 0 genome.wustl.edu 37 19 46376101 46376101 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 46376101 46376101 A G SNP FOXA3 ENST00000302177 human ensembl 74_37 +1 known missense c.838 p.T280A 0.055 NULL pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 33 0 0 23 11 32.3529 IGFL4 0 genome.wustl.edu 37 19 46543646 46543646 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 46543646 46543646 C T SNP IGFL4 ENST00000377697 human ensembl 74_37 -1 known silent c.99 p.A33 0.000 NULL NULL - no_errors IGFL4 HGNC ENSG00000204869 66 0 0 48 14 22.5806 PNMAL1 0 genome.wustl.edu 37 19 46973945 46973945 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 46973945 46973945 G A SNP PNMAL1 ENST00000313683 human ensembl 74_37 -1 known silent c.348 p.A116 0.002 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 57 0 0 48 17 26.1538 ARHGAP35 0 genome.wustl.edu 37 19 47422067 47422067 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 47422067 47422067 G A SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known silent c.135 p.P45 0.024 superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 102 0 0 64 23 26.4368 SLC8A2 0 genome.wustl.edu 37 19 47951332 47951332 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 47951332 47951332 G A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known silent c.1497 p.G499 0.992 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 8 0 0 7 4 36.3636 TICAM1 0 genome.wustl.edu 37 19 4817760 4817760 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 4817760 4817760 G A SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known silent c.630 p.S210 1.000 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 38 0 0 23 19 45.2381 PLIN3 0 genome.wustl.edu 37 19 4859941 4859941 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 4859941 4859941 C T SNP PLIN3 ENST00000221957 human ensembl 74_37 -1 known silent c.162 p.P54 0.493 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC ENSG00000105355 23 0 0 21 5 19.2308 PLEKHA4 0 genome.wustl.edu 37 19 49362226 49362226 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 49362226 49362226 C T SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.863 p.R288H 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 43 0 0 24 15 38.4615 PLEKHA4 0 genome.wustl.edu 37 19 49368837 49368837 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 49368837 49368837 C T SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.115 p.A39T 0.926 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 50 0 0 30 12 28.5714 RUVBL2 0 genome.wustl.edu 37 19 49510397 49510397 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 49510397 49510397 C T SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known missense c.388 p.R130C 0.949 pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 39 0 0 28 14 33.3333 UHRF1 0 genome.wustl.edu 37 19 4954817 4954817 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 4954817 4954817 C T SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF1 HGNC ENSG00000034063 33 0 0 27 15 35.7143 KCNA7 0 genome.wustl.edu 37 19 49573446 49573446 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 49573446 49573446 A G SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known silent c.1245 p.H415 0.940 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_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 51 0 0 28 12 30 HRC 0 genome.wustl.edu 37 19 49657748 49657748 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 49657748 49657748 A G SNP HRC ENST00000252825 human ensembl 74_37 -1 known silent c.747 p.D249 0.849 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 29 0 0 36 4 10 PRMT1 0 genome.wustl.edu 37 19 50189896 50189896 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 50189896 50189896 G A SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known silent c.945 p.T315 0.237 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 37 0 0 25 13 34.2105 ZNF473 0 genome.wustl.edu 37 19 50542512 50542512 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 50542512 50542512 C T SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.104 p.A35V 0.001 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 ZNF473 HGNC ENSG00000142528 76 0 0 72 18 20 ZNF473 0 genome.wustl.edu 37 19 50545072 50545072 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 50545072 50545072 C T SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known silent c.222 p.S74 0.002 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 ZNF473 HGNC ENSG00000142528 41 0 0 37 13 26 LRRC4B 0 genome.wustl.edu 37 19 51021607 51021607 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 51021607 51021607 C G SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1363 p.A455P 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 30 0 0 13 12 48 KDM4B 0 genome.wustl.edu 37 19 5119686 5119686 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 5119686 5119686 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.1138 p.P380S 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 10 0 0 4 3 42.8571 GPR32 0 genome.wustl.edu 37 19 51274765 51274765 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 51274765 51274765 C T SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.908 p.A303V 0.107 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 59 0 0 45 19 29.6875 PTPRS 0 genome.wustl.edu 37 19 5222821 5222821 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 5222821 5222821 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.2985 p.A995 0.266 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 13 0 0 8 7 46.6667 ZNF761 0 genome.wustl.edu 37 19 53950474 53950474 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 53950474 53950474 C T SNP ZNF761 ENST00000429310 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF761 HGNC ENSG00000160336 68 0 0 72 29 28.7129 MBOAT7 0 genome.wustl.edu 37 19 54682578 54682578 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 54682578 54682578 C T SNP MBOAT7 ENST00000245615 human ensembl 74_37 -1 known missense c.935 p.R312Q 0.998 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 34 0 0 21 14 40 LILRB3 0 genome.wustl.edu 37 19 54720983 54720983 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 54720983 54720983 G A SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known silent c.1926 p.Y642 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 64 0 0 50 22 30.5556 KIR2DL3 0 genome.wustl.edu 37 19 55263120 55263120 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 55263120 55263120 T C SNP KIR2DL3 ENST00000342376 human ensembl 74_37 +1 known silent c.735 p.H245 0.001 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 161 0 0 121 38 23.8994 NCR1 0 genome.wustl.edu 37 19 55420752 55420752 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 55420752 55420752 C T SNP NCR1 ENST00000291890 human ensembl 74_37 +1 known silent c.504 p.Y168 0.000 smart_Ig_sub smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 82 0 0 50 22 30.5556 NLRP9 0 genome.wustl.edu 37 19 56243922 56243922 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 56243922 56243922 G A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known silent c.1275 p.G425 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 138 0 0 115 45 28.125 ZNF667-AS1 0 genome.wustl.edu 37 19 57006454 57006454 + RNA SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 57006454 57006454 C G SNP ZNF667-AS1 ENST00000299997 human ensembl 74_37 +1 known rna NULL NULL 0.588 - - - no_errors ZNF667-AS1 HGNC ENSG00000166770 11 0 0 2 3 60 PEG3 0 genome.wustl.edu 37 19 57333110 57333110 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 57333110 57333110 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.578 p.R193Q 0.552 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 126 0 0 107 42 28.1879 ZNF17 0 genome.wustl.edu 37 19 57931842 57931842 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 57931842 57931842 C T SNP ZNF17 ENST00000601808 human ensembl 74_37 +1 known missense c.982 p.R328W 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF17 HGNC ENSG00000186272 69 0 0 44 33 42.8571 ZNF549 0 genome.wustl.edu 37 19 58048866 58048866 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 58048866 58048866 G T SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.494 p.S165I 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 ZNF549 HGNC ENSG00000121406 66 0 0 54 31 36.4706 ZNF416 0 genome.wustl.edu 37 19 58083691 58083691 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 58083691 58083691 G A SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known silent c.1581 p.C527 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 ZNF416 HGNC ENSG00000083817 84 0 0 66 35 34.6535 SLC27A5 0 genome.wustl.edu 37 19 59011792 59011792 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 59011792 59011792 A G SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known missense c.1382 p.L461P 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 76 0 0 46 15 24.5902 HCN2 0 genome.wustl.edu 37 19 613971 613971 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 613971 613971 C T SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.1945 p.R649W 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_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 35 0 0 22 13 37.1429 INSR 0 genome.wustl.edu 37 19 7122772 7122772 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 7122772 7122772 G A SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.3382 p.R1128C 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,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 INSR HGNC ENSG00000171105 27 0 0 14 12 46.1538 ZNF358 0 genome.wustl.edu 37 19 7585781 7585781 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 7585781 7585781 C T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known silent c.1653 p.G551 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 57 0 0 34 21 38.1818 CAMSAP3 0 genome.wustl.edu 37 19 7682715 7682715 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 7682715 7682715 G A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known silent c.3603 p.T1201 0.000 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 25 0 0 15 23 60.5263 MAP2K7 0 genome.wustl.edu 37 19 7975196 7975196 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 7975196 7975196 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.511 p.G171S 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 MAP2K7 HGNC ENSG00000076984 15 0 0 18 9 33.3333 MAP2K7 0 genome.wustl.edu 37 19 7975348 7975348 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 7975348 7975348 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.584 p.R195H 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 MAP2K7 HGNC ENSG00000076984 22 0 0 12 6 33.3333 MAP2K7 0 genome.wustl.edu 37 19 7976201 7976201 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 7976201 7976201 C A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1048 p.L350M 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 MAP2K7 HGNC ENSG00000076984 43 0 0 38 19 33.3333 FBN3 0 genome.wustl.edu 37 19 8176641 8176641 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 8176641 8176641 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.3975 p.C1325 0.043 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 42 0 0 29 11 27.5 CERS4 0 genome.wustl.edu 37 19 8320601 8320601 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 8320601 8320601 T C SNP CERS4 ENST00000251363 human ensembl 74_37 +1 known silent c.402 p.C134 0.997 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS4 HGNC ENSG00000090661 15 0 0 11 4 26.6667 HNRNPM 0 genome.wustl.edu 37 19 8533719 8533719 + Splice_Site SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 8533719 8533719 G A SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known splice_site c.895+1 e9+1 1.000 - - - no_errors HNRNPM HGNC ENSG00000099783 55 0 0 39 12 23.5294 MUC16 0 genome.wustl.edu 37 19 9069699 9069699 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 9069699 9069699 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.17747 p.Q5916R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 86 0 0 67 29 30.2083 ZNF560 0 genome.wustl.edu 37 19 9578164 9578164 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 9578164 9578164 G A SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.1459 p.R487C 0.148 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 ZNF560 HGNC ENSG00000198028 167 0 0 131 56 29.9465 EIF5B 0 genome.wustl.edu 37 2 100013282 100013282 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 100013282 100013282 G A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.3314 p.R1105Q 1.000 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 81 0 0 56 19 25.3333 PDCL3 0 genome.wustl.edu 37 2 101188062 101188062 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 101188062 101188062 T C SNP PDCL3 ENST00000264254 human ensembl 74_37 +1 known missense c.379 p.C127R 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Antitoxin_Phd/YefM - no_errors PDCL3 HGNC ENSG00000115539 60 0 0 71 22 23.6559 HPCAL1 0 genome.wustl.edu 37 2 10560003 10560003 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 10560003 10560003 C T SNP HPCAL1 ENST00000307845 human ensembl 74_37 +1 known silent c.120 p.T40 0.923 prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 44 0 0 36 23 38.9831 GREB1 0 genome.wustl.edu 37 2 11756801 11756801 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 11756801 11756801 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.3367 p.R1123C 0.001 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 176 0 0 150 69 31.5068 INSIG2 0 genome.wustl.edu 37 2 118860775 118860775 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 118860775 118860775 G A SNP INSIG2 ENST00000245787 human ensembl 74_37 +1 known missense c.247 p.V83M 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 83 0 0 81 74 47.7419 STEAP3 0 genome.wustl.edu 37 2 120020821 120020821 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 120020821 120020821 C T SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known silent c.1404 p.L468 0.007 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 45 0 0 47 23 32.8571 TMEM37 0 genome.wustl.edu 37 2 120195018 120195018 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 120195018 120195018 C T SNP TMEM37 ENST00000465296 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TMEM37 HGNC ENSG00000171227 146 0 0 103 56 35.2201 INHBB 0 genome.wustl.edu 37 2 121107076 121107076 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 121107076 121107076 G A SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.850 p.D284N 0.997 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 36 0 0 29 15 34.0909 TUBA3E 0 genome.wustl.edu 37 2 130951399 130951399 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 130951399 130951399 C T SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known missense c.1016 p.R339H 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 92 0 0 86 36 29.5082 THSD7B 0 genome.wustl.edu 37 2 137852592 137852592 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 137852592 137852592 A T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1100 p.N367I 0.065 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 67 0 0 38 33 46.4789 SPOPL 0 genome.wustl.edu 37 2 139326628 139326628 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 139326628 139326628 G A SNP SPOPL ENST00000280098 human ensembl 74_37 +1 known missense c.1157 p.R386H 1.000 NULL pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 287 1 0.347222 249 125 33.4225 GTDC1 0 genome.wustl.edu 37 2 144710386 144710386 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 144710386 144710386 A C SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known missense c.1155 p.C385W 1.000 pfam_Glyco_trans_1 pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 102 0 0 74 40 35.0877 TPO 0 genome.wustl.edu 37 2 1459959 1459959 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 1459959 1459959 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.724 p.A242T 0.872 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 36 0 0 44 5 10.2041 ACVR2A 0 genome.wustl.edu 37 2 148674946 148674946 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 148674946 148674946 G A SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known missense c.767 p.G256D 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 49 0 0 35 18 33.9623 NEB 0 genome.wustl.edu 37 2 152521924 152521924 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 152521924 152521924 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.5161 p.E1721K 0.967 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 43 0 0 25 35 58.3333 FAP 0 genome.wustl.edu 37 2 163072486 163072486 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 163072486 163072486 C T SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.788 p.R263Q 0.947 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 47 0 0 17 36 67.9245 PXDN 0 genome.wustl.edu 37 2 1657550 1657550 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 1657550 1657550 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1954 p.R652C 1.000 NULL 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 16 0 0 12 8 40 HOXD4 0 genome.wustl.edu 37 2 177017383 177017383 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 177017383 177017383 T C SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known missense c.481 p.Y161H 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 62 0 0 20 26 56.5217 TTN 0 genome.wustl.edu 37 2 179397385 179397385 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 179397385 179397385 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.96253 p.R32085C 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 80 0 0 63 21 25 TTN 0 genome.wustl.edu 37 2 179435651 179435651 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 179435651 179435651 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.67504 p.G22502C 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 135 0 0 155 9 5.4878 TTN 0 genome.wustl.edu 37 2 179499546 179499546 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 179499546 179499546 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.34351 p.R11451C 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 61 0 0 41 58 58.5859 KCNS3 0 genome.wustl.edu 37 2 18112315 18112315 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 18112315 18112315 G A SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.40 p.E14K 1.000 superfamily_BTB/POZ_fold 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 79 0 0 51 17 25 NCKAP1 0 genome.wustl.edu 37 2 183867725 183867725 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 183867725 183867725 C T SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.364 p.V122I 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 40 0 0 10 24 70.5882 ZSWIM2 0 genome.wustl.edu 37 2 187698688 187698688 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 187698688 187698688 C T SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known silent c.813 p.T271 0.001 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 50 0 0 51 23 31.0811 PMS1 0 genome.wustl.edu 37 2 190656532 190656532 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 190656532 190656532 G A SNP PMS1 ENST00000421722 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PMS1 HGNC ENSG00000064933 42 0 0 35 19 35.1852 MFSD6 0 genome.wustl.edu 37 2 191301046 191301046 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 191301046 191301046 A G SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known silent c.291 p.G97 0.861 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 106 1 0.934579 45 76 62.8099 STAT1 0 genome.wustl.edu 37 2 191850352 191850352 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 191850352 191850352 G A SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.1256 p.T419M 0.999 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_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 66 0 0 26 44 62.8571 PLCL1 0 genome.wustl.edu 37 2 198950564 198950564 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 198950564 198950564 A G SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2323 p.N775D 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_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_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 95 0 0 74 24 24.4898 PLCL1 0 genome.wustl.edu 37 2 198950794 198950794 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 198950794 198950794 T C SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known silent c.2553 p.S851 0.975 NULL 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_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 64 0 0 43 16 27.1186 PLCL1 0 genome.wustl.edu 37 2 199011601 199011601 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 199011601 199011601 C A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.3203 p.P1068H 0.031 NULL 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_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 58 0 0 23 44 65.6716 ALS2 0 genome.wustl.edu 37 2 202625614 202625614 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 202625614 202625614 A G SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.1103 p.V368A 0.000 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 64 0 0 42 23 35.3846 SDC1 0 genome.wustl.edu 37 2 20402951 20402951 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 20402951 20402951 C T SNP SDC1 ENST00000254351 human ensembl 74_37 -1 known silent c.660 p.T220 0.000 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC1 HGNC ENSG00000115884 40 0 0 29 21 42 ZDBF2 0 genome.wustl.edu 37 2 207174321 207174321 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 207174321 207174321 G A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.5069 p.R1690Q 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 92 0 0 42 68 61.8182 CREB1 0 genome.wustl.edu 37 2 208424959 208424959 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 208424959 208424959 C T SNP CREB1 ENST00000432329 human ensembl 74_37 +1 known missense c.124 p.P42S 1.000 NULL pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB1 HGNC ENSG00000118260 79 0 0 48 30 38.4615 IKZF2 0 genome.wustl.edu 37 2 213872376 213872376 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 213872376 213872376 C A SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.1289 p.R430M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 201 0 0 124 62 33.3333 SMARCAL1 0 genome.wustl.edu 37 2 217315720 217315720 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 217315720 217315720 G A SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.2003 p.R668Q 0.838 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 47 0 0 39 15 27.7778 TNS1 0 genome.wustl.edu 37 2 218678471 218678471 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 218678471 218678471 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.4486 p.A1496T 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 46 0 0 17 44 72.1311 C2orf62 0 genome.wustl.edu 37 2 219229425 219229425 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 219229425 219229425 C T SNP C2orf62 ENST00000289388 human ensembl 74_37 +1 known silent c.705 p.H235 0.999 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 75 0 0 44 28 38.8889 CCDC108 0 genome.wustl.edu 37 2 219893021 219893021 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 219893021 219893021 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.1753 p.R585W 0.977 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 74 0 0 24 52 68.4211 TUBA4B 0 genome.wustl.edu 37 2 220136053 220136053 + RNA SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 220136053 220136053 A G SNP TUBA4B ENST00000490341 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors TUBA4B HGNC ENSG00000243910 79 0 0 77 20 20.6186 ACSL3 0 genome.wustl.edu 37 2 223791754 223791754 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 223791754 223791754 C T SNP ACSL3 ENST00000357430 human ensembl 74_37 +1 known nonsense c.1312 p.R438* 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 63 0 0 15 32 68.0851 NYAP2 0 genome.wustl.edu 37 2 226447629 226447629 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 226447629 226447629 C T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1496 p.P499L 0.427 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 24 0 0 4 14 77.7778 COL4A4 0 genome.wustl.edu 37 2 227924228 227924228 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 227924228 227924228 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.2276 p.P759L 0.552 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 94 0 0 36 74 67.2727 ALPI 0 genome.wustl.edu 37 2 233323610 233323610 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 233323610 233323610 G A SNP ALPI ENST00000295463 human ensembl 74_37 +1 known silent c.1341 p.S447 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 ALPI HGNC ENSG00000163295 10 0 0 3 10 76.9231 CHRND 0 genome.wustl.edu 37 2 233393281 233393281 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 233393281 233393281 C T SNP CHRND ENST00000258385 human ensembl 74_37 +1 known silent c.424 p.L142 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,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 CHRND HGNC ENSG00000135902 123 0 0 38 100 72.4638 COL6A3 0 genome.wustl.edu 37 2 238233452 238233452 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 238233452 238233452 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.9499 p.A3167T 0.000 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 46 0 0 9 32 78.0488 COL6A3 0 genome.wustl.edu 37 2 238253700 238253700 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 238253700 238253700 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known splice_site c.7162+1 e33+1 1.000 - - - no_errors COL6A3 HGNC ENSG00000163359 48 0 0 11 26 70.2703 COL6A3 0 genome.wustl.edu 37 2 238277739 238277739 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 238277739 238277739 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.4367 p.R1456Q 0.977 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 45 0 0 14 37 72.549 MYEOV2 0 genome.wustl.edu 37 2 241066179 241066179 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 241066179 241066179 C T SNP MYEOV2 ENST00000307266 human ensembl 74_37 -1 known missense c.560 p.R187Q 0.000 NULL NULL - no_errors MYEOV2 HGNC ENSG00000172428 94 0 0 93 41 30.597 ANKMY1 0 genome.wustl.edu 37 2 241492466 241492466 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 241492466 241492466 A G SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known silent c.78 p.H26 0.001 pfam_MORN,smart_MORN pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 32 0 0 25 19 43.1818 GPR35 0 genome.wustl.edu 37 2 241569453 241569453 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 241569453 241569453 C T SNP GPR35 ENST00000438013 human ensembl 74_37 +1 known silent c.177 p.G59 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 39 0 0 17 30 63.8298 C2orf54 0 genome.wustl.edu 37 2 241831149 241831149 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 241831149 241831149 C T SNP C2orf54 ENST00000388934 human ensembl 74_37 -1 known silent c.546 p.E182 0.392 NULL NULL - no_errors C2orf54 HGNC ENSG00000172478 47 0 0 21 24 53.3333 STK25 0 genome.wustl.edu 37 2 242439681 242439681 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 242439681 242439681 G T SNP STK25 ENST00000316586 human ensembl 74_37 -1 known missense c.334 p.L112M 0.993 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK25 HGNC ENSG00000115694 64 0 0 57 15 20.8333 CXXC11 0 genome.wustl.edu 37 2 242815105 242815105 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 242815105 242815105 G A SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known silent c.1398 p.T466 0.000 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 44 0 0 17 21 55.2632 DTNB 0 genome.wustl.edu 37 2 25611124 25611124 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 25611124 25611124 G A SNP DTNB ENST00000406818 human ensembl 74_37 -1 known missense c.1682 p.P561L 0.998 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 14 0 0 4 4 50 KIF3C 0 genome.wustl.edu 37 2 26203351 26203351 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 26203351 26203351 C T SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.1436 p.R479H 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 KIF3C HGNC ENSG00000084731 68 0 0 34 15 30.6122 KCNK3 0 genome.wustl.edu 37 2 26950703 26950703 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 26950703 26950703 G A SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.452 p.R151H 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_KCNK3 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 39 0 0 25 16 39.0244 DPYSL5 0 genome.wustl.edu 37 2 27150265 27150265 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 27150265 27150265 C T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.565 p.R189C 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 32 0 0 26 14 35 AGBL5 0 genome.wustl.edu 37 2 27278613 27278613 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 27278613 27278613 G A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known silent c.972 p.P324 0.011 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 75 0 0 71 37 34.2593 AGBL5 0 genome.wustl.edu 37 2 27282079 27282079 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 27282079 27282079 C T SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known silent c.1896 p.S632 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 173 0 0 128 60 31.9149 IFT172 0 genome.wustl.edu 37 2 27679392 27679392 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 27679392 27679392 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.3357 p.H1119 0.967 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 70 0 0 53 20 27.3973 PLB1 0 genome.wustl.edu 37 2 28825712 28825712 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 28825712 28825712 G A SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.2665 p.V889M 0.997 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 131 1 0.757576 81 48 37.2093 TMEM178A 0 genome.wustl.edu 37 2 39931305 39931305 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 39931305 39931305 C T SNP TMEM178A ENST00000281961 human ensembl 74_37 +1 known missense c.485 p.T162I 0.989 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 45 0 0 39 18 31.5789 ABCG8 0 genome.wustl.edu 37 2 44079930 44079930 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 44079930 44079930 C T SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known missense c.887 p.A296V 0.010 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 70 0 0 53 20 27.3973 SRBD1 0 genome.wustl.edu 37 2 45778340 45778340 + Silent SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 45778340 45778340 A C SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known silent c.1599 p.P533 0.952 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 61 0 0 44 20 31.25 SRBD1 0 genome.wustl.edu 37 2 45800478 45800478 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 45800478 45800478 G A SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known silent c.1173 p.C391 0.980 pfam_Tex-like_N pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 22 0 0 26 10 27.7778 FSHR 0 genome.wustl.edu 37 2 49210115 49210115 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 49210115 49210115 C T SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.604 p.D202N 1.000 pfam_Leu-rich_rpt,prints_FSH_rcpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 71 0 0 52 15 22.3881 NRXN1 0 genome.wustl.edu 37 2 50318469 50318469 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 50318469 50318469 T C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.3686 p.Y1229C 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 NRXN1 HGNC ENSG00000179915 142 0 0 110 56 33.7349 NRXN1 0 genome.wustl.edu 37 2 50573961 50573961 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 50573961 50573961 C T SNP NRXN1 ENST00000342183 human ensembl 74_37 -1 known missense c.127 p.G43S 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 18 0 0 10 3 23.0769 USP34 0 genome.wustl.edu 37 2 61441428 61441428 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 61441428 61441428 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.8449 p.R2817C 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 178 0 0 142 53 27.1795 B3GNT2 0 genome.wustl.edu 37 2 62450427 62450427 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 62450427 62450427 A G SNP B3GNT2 ENST00000301998 human ensembl 74_37 +1 known missense c.1072 p.I358V 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GNT2 HGNC ENSG00000170340 49 0 0 59 4 6.34921 ANXA4 0 genome.wustl.edu 37 2 70039823 70039823 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 70039823 70039823 C T SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known silent c.516 p.L172 0.018 prints_AnnexinV pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 33 0 0 32 17 34.6939 CLEC4F 0 genome.wustl.edu 37 2 71043196 71043196 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 71043196 71043196 C A SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known missense c.1317 p.Q439H 0.056 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 54 0 0 44 25 36.2319 VAX2 0 genome.wustl.edu 37 2 71148370 71148370 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 71148370 71148370 C T SNP VAX2 ENST00000234392 human ensembl 74_37 +1 known silent c.390 p.R130 0.115 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC ENSG00000116035 32 0 0 15 8 34.7826 ZNF638 0 genome.wustl.edu 37 2 71591248 71591248 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 71591248 71591248 G A SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.1583 p.R528H 0.926 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 77 0 0 69 33 32.3529 LRRTM1 0 genome.wustl.edu 37 2 80529936 80529936 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 80529936 80529936 C T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.1009 p.D337N 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 29 0 0 15 11 42.3077 PTCD3 0 genome.wustl.edu 37 2 86355071 86355071 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 86355071 86355071 G A SNP PTCD3 ENST00000254630 human ensembl 74_37 +1 known silent c.1104 p.S368 0.753 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 67 0 0 57 33 36.6667 MBOAT2 0 genome.wustl.edu 37 2 9017344 9017344 + Splice_Site SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 9017344 9017344 C A SNP MBOAT2 ENST00000305997 human ensembl 74_37 -1 known splice_site c.507-1 e7-1 1.000 - - - no_errors MBOAT2 HGNC ENSG00000143797 35 0 0 25 14 35.8974 ASAP2 0 genome.wustl.edu 37 2 9515028 9515028 + Silent SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 9515028 9515028 T G SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known silent c.1701 p.A567 0.983 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 106 0 0 100 11 9.90991 ZAP70 0 genome.wustl.edu 37 2 98351851 98351851 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 98351851 98351851 C T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.1221 p.A407 0.159 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 91 0 0 50 33 39.759 CNGA3 0 genome.wustl.edu 37 2 99008387 99008387 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 99008387 99008387 G A SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known silent c.627 p.S209 0.000 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 CNGA3 HGNC ENSG00000144191 41 0 0 39 14 26.4151 LIPT1 0 genome.wustl.edu 37 2 99779031 99779031 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 99779031 99779031 C T SNP LIPT1 ENST00000340066 human ensembl 74_37 +1 known missense c.611 p.A204V 1.000 tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 71 0 0 59 33 35.8696 SNAP25 0 genome.wustl.edu 37 20 10277684 10277684 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 10277684 10277684 C T SNP SNAP25 ENST00000254976 human ensembl 74_37 +1 known silent c.393 p.G131 0.991 pfam_SNAP-25 pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP25 HGNC ENSG00000132639 31 0 0 28 10 26.3158 JAG1 0 genome.wustl.edu 37 20 10622442 10622442 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 10622442 10622442 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.2671 p.A891T 0.901 smart_VWC_out,smart_VWF_C 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 182 0 0 133 57 30 PSMF1 0 genome.wustl.edu 37 20 1106263 1106263 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 1106263 1106263 C T SNP PSMF1 ENST00000333082 human ensembl 74_37 +1 known silent c.252 p.T84 0.358 pfam_FP_dom pfam_FP_dom,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 41 0 0 42 13 23.6364 OTOR 0 genome.wustl.edu 37 20 16729527 16729527 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 16729527 16729527 C T SNP OTOR ENST00000246081 human ensembl 74_37 +1 known missense c.131 p.A44V 1.000 superfamily_SH3_domain,smart_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors OTOR HGNC ENSG00000125879 36 0 0 27 7 20.5882 PCSK2 0 genome.wustl.edu 37 20 17462676 17462676 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 17462676 17462676 C T SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known silent c.1878 p.A626 0.488 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 27 0 0 34 13 27.6596 CSRP2BP 0 genome.wustl.edu 37 20 18143418 18143418 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 18143418 18143418 G A SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known silent c.1500 p.A500 0.007 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 134 0 0 117 58 33.1429 ZNF133 0 genome.wustl.edu 37 20 18296783 18296783 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 18296783 18296783 C T SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.1297 p.R433W 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF133 HGNC ENSG00000125846 76 0 0 63 17 21.25 POLR3F 0 genome.wustl.edu 37 20 18448239 18448239 + RNA SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 18448239 18448239 A G SNP POLR3F ENST00000462997 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR3F HGNC ENSG00000132664 25 0 0 19 7 26.9231 C20orf26 0 genome.wustl.edu 37 20 20257973 20257973 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 20257973 20257973 G A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.2667 p.A889 0.003 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 65 0 0 35 13 27.0833 PAX1 0 genome.wustl.edu 37 20 21687147 21687147 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 21687147 21687147 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.358 p.R120C 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 28 0 0 21 10 32.2581 PAX1 0 genome.wustl.edu 37 20 21687491 21687491 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 21687491 21687491 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.702 p.Y234 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 35 0 0 21 8 27.5862 ACSS1 0 genome.wustl.edu 37 20 25011401 25011401 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 25011401 25011401 T C SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.625 p.N209D 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 54 0 0 36 36 50 MAPRE1 0 genome.wustl.edu 37 20 31427543 31427543 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 31427543 31427543 C T SNP MAPRE1 ENST00000375571 human ensembl 74_37 +1 known missense c.478 p.P160S 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE1 HGNC ENSG00000101367 349 2 0.569801 342 55 13.8539 LZTS3 0 genome.wustl.edu 37 20 3146842 3146842 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 3146842 3146842 T C SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known silent c.624 p.P208 0.984 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 16 0 0 7 4 36.3636 CDK5RAP1 0 genome.wustl.edu 37 20 31967484 31967484 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 31967484 31967484 A G SNP CDK5RAP1 ENST00000357886 human ensembl 74_37 -1 known missense c.932 p.V311A 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 37 0 0 35 14 28.5714 CEP250 0 genome.wustl.edu 37 20 34053898 34053898 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 34053898 34053898 C T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known nonsense c.361 p.R121* 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 56 0 0 52 13 20 RBM12 0 genome.wustl.edu 37 20 34241967 34241967 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 34241967 34241967 A G SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known silent c.1278 p.H426 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 72 0 0 60 32 34.7826 DLGAP4 0 genome.wustl.edu 37 20 35155495 35155495 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 35155495 35155495 C T SNP DLGAP4 ENST00000475894 human ensembl 74_37 +1 known rna NULL NULL 0.057 - - - no_errors DLGAP4 HGNC ENSG00000080845 10 0 0 12 8 40 NDRG3 0 genome.wustl.edu 37 20 35317088 35317088 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 35317088 35317088 G T SNP NDRG3 ENST00000349004 human ensembl 74_37 -1 known missense c.193 p.L65I 1.000 pfam_Ndr pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC ENSG00000101079 72 0 0 51 18 26.087 ATRN 0 genome.wustl.edu 37 20 3565398 3565398 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 3565398 3565398 G T SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.3055 p.G1019C 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 71 0 0 46 23 33.3333 RBL1 0 genome.wustl.edu 37 20 35663858 35663858 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 35663858 35663858 C T SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known missense c.1957 p.A653T 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 51 0 0 23 18 43.9024 RPN2 0 genome.wustl.edu 37 20 35835788 35835788 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 35835788 35835788 A G SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.803 p.H268R 0.999 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 112 0 0 87 10 10.3093 SLC32A1 0 genome.wustl.edu 37 20 37357184 37357184 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 37357184 37357184 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1480 p.V494I 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 18 0 0 19 7 26.9231 DHX35 0 genome.wustl.edu 37 20 37662959 37662959 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 37662959 37662959 C T SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.2066 p.T689M 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,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 DHX35 HGNC ENSG00000101452 54 0 0 36 14 28 SMOX 0 genome.wustl.edu 37 20 4164164 4164164 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 4164164 4164164 C T SNP SMOX ENST00000305958 human ensembl 74_37 +1 known missense c.1393 p.R465W 0.997 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 98 0 0 103 13 11.2069 HNF4A 0 genome.wustl.edu 37 20 43034816 43034816 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 43034816 43034816 C T SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known silent c.234 p.D78 0.995 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 59 0 0 39 20 33.8983 MMP9 0 genome.wustl.edu 37 20 44641107 44641107 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 44641107 44641107 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1216 p.A406T 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 62 0 0 35 17 32.6923 SLC12A5 0 genome.wustl.edu 37 20 44685876 44685876 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 44685876 44685876 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.3262 p.R1088W 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 85 0 0 57 37 39.3617 CDH22 0 genome.wustl.edu 37 20 44815281 44815281 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 44815281 44815281 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.1609 p.R537C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 57 0 0 41 13 24.0741 ARFGEF2 0 genome.wustl.edu 37 20 47605849 47605849 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 47605849 47605849 T G SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.2561 p.L854R 0.999 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 45 0 0 17 13 43.3333 ARFGEF2 0 genome.wustl.edu 37 20 47611069 47611069 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 47611069 47611069 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.3055 p.R1019C 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 54 0 0 37 20 35.0877 SNAI1 0 genome.wustl.edu 37 20 48604589 48604589 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 48604589 48604589 G A SNP SNAI1 ENST00000244050 human ensembl 74_37 +1 known missense c.791 p.R264H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC ENSG00000124216 43 0 0 16 12 42.8571 ADNP 0 genome.wustl.edu 37 20 49508895 49508895 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 49508895 49508895 T G SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.2356 p.I786L 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 43 0 0 38 13 25.4902 NFATC2 0 genome.wustl.edu 37 20 50140064 50140064 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 50140064 50140064 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.716 p.P239L 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 49 0 0 28 9 24.3243 ZNF217 0 genome.wustl.edu 37 20 52193292 52193292 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 52193292 52193292 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.2011 p.A671T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 146 0 0 117 44 27.3292 NPEPL1 0 genome.wustl.edu 37 20 57269569 57269569 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 57269569 57269569 G A SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.428 p.R143H 0.998 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 39 0 0 23 15 39.4737 ZNF831 0 genome.wustl.edu 37 20 57768886 57768886 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 57768886 57768886 T C SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.2812 p.S938P 0.018 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 75 0 0 52 29 35.8025 CDH26 0 genome.wustl.edu 37 20 58563985 58563985 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 58563985 58563985 G A SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known silent c.1050 p.A350 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 46 0 0 26 10 27.7778 NTSR1 0 genome.wustl.edu 37 20 61391505 61391505 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 61391505 61391505 C G SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known missense c.1143 p.C381W 0.928 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_NT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 90 0 0 52 17 24.6377 YTHDF1 0 genome.wustl.edu 37 20 61834535 61834535 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 61834535 61834535 C T SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known missense c.757 p.G253R 0.980 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 72 0 0 51 22 30.137 KCNQ2 0 genome.wustl.edu 37 20 62070960 62070960 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 62070960 62070960 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.918 p.A306 0.995 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 48 0 0 30 8 21.0526 SRMS 0 genome.wustl.edu 37 20 62178751 62178751 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 62178751 62178751 C T SNP SRMS ENST00000217188 human ensembl 74_37 -1 known silent c.66 p.A22 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,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 SRMS HGNC ENSG00000125508 51 0 0 31 20 39.2157 HELZ2 0 genome.wustl.edu 37 20 62196899 62196899 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 62196899 62196899 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.3276 p.D1092 0.649 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 20 0 0 18 9 33.3333 UCKL1 0 genome.wustl.edu 37 20 62577179 62577179 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 62577179 62577179 C T SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known silent c.561 p.T187 0.528 pfam_PRK/URK,superfamily_P-loop_NTPase,prints_Uridine_kinase,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 172 0 0 111 40 26.4901 ZNF512B 0 genome.wustl.edu 37 20 62598745 62598745 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 62598745 62598745 G A SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known nonsense c.253 p.R85* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 89 0 0 53 28 34.5679 OPRL1 0 genome.wustl.edu 37 20 62729786 62729786 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 62729786 62729786 G A SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known silent c.747 p.S249 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opioid_rcpt,prints_Neuropept_B/W_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_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 66 0 0 48 21 30.4348 PLCB1 0 genome.wustl.edu 37 20 8862464 8862464 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 8862464 8862464 A G SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.3619 p.I1207V 0.986 NULL pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,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 PLCB1 HGNC ENSG00000182621 116 0 0 82 33 28.6957 NRIP1 0 genome.wustl.edu 37 21 16338141 16338141 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 16338141 16338141 G A SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known silent c.2373 p.S791 0.002 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 39 0 0 16 18 52.9412 GRIK1 0 genome.wustl.edu 37 21 30949413 30949413 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 30949413 30949413 C T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known silent c.2007 p.T669 0.997 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt 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 GRIK1 HGNC ENSG00000171189 92 0 0 83 43 34.127 KRTAP15-1 0 genome.wustl.edu 37 21 31812904 31812904 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 31812904 31812904 C T SNP KRTAP15-1 ENST00000334067 human ensembl 74_37 +1 known missense c.259 p.R87C 0.004 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP15-1 HGNC ENSG00000186970 131 0 0 92 38 29.2308 TIAM1 0 genome.wustl.edu 37 21 32493037 32493037 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 32493037 32493037 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.4425 p.P1475 0.845 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 53 0 0 58 4 6.45161 GART 0 genome.wustl.edu 37 21 34903066 34903066 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 34903066 34903066 T C SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.722 p.Q241R 1.000 pfam_PRibGlycinamid_synth_ATP-grasp,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 37 0 0 38 13 25.4902 TTC3 0 genome.wustl.edu 37 21 38498385 38498385 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 38498385 38498385 G A SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known silent c.1239 p.A413 0.002 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 65 0 0 33 17 34 DSCR3 0 genome.wustl.edu 37 21 38600102 38600102 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 38600102 38600102 C T SNP DSCR3 ENST00000309117 human ensembl 74_37 -1 known missense c.664 p.A222T 1.000 pfam_VPS26 pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set - no_errors DSCR3 HGNC ENSG00000157538 20 0 0 29 6 17.1429 RIPK4 0 genome.wustl.edu 37 21 43161498 43161498 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 43161498 43161498 C T SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.1999 p.V667M 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 64 0 0 44 12 21.4286 UMODL1 0 genome.wustl.edu 37 21 43531694 43531694 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 43531694 43531694 G T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.2362 p.A788S 0.000 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 45 0 0 24 9 27.2727 RRP1 0 genome.wustl.edu 37 21 45219516 45219516 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 45219516 45219516 G A SNP RRP1 ENST00000497547 human ensembl 74_37 +1 known missense c.877 p.G293S 0.002 NULL pfam_Nop52 - no_errors RRP1 HGNC ENSG00000160214 19 0 0 15 4 21.0526 PWP2 0 genome.wustl.edu 37 21 45535691 45535691 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 45535691 45535691 A G SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known silent c.726 p.E242 0.035 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 41 0 0 24 13 35.1351 PFKL 0 genome.wustl.edu 37 21 45725142 45725142 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 45725142 45725142 G A SNP PFKL ENST00000491298 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PFKL HGNC ENSG00000141959 14 0 0 7 9 56.25 TRPM2 0 genome.wustl.edu 37 21 45798982 45798982 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 45798982 45798982 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.1117 p.D373N 0.837 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 57 0 0 42 26 38.2353 TRPM2 0 genome.wustl.edu 37 21 45825802 45825802 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 45825802 45825802 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.2672 p.T891M 0.036 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 55 0 0 39 18 31.5789 LRRC3 0 genome.wustl.edu 37 21 45876853 45876853 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 45876853 45876853 C T SNP LRRC3 ENST00000291592 human ensembl 74_37 +1 known missense c.326 p.A109V 0.003 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 25 0 0 28 4 12.5 ADARB1 0 genome.wustl.edu 37 21 46596311 46596311 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 46596311 46596311 G T SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.695 p.S232I 0.999 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 69 0 0 41 24 36.9231 CCT8L2 0 genome.wustl.edu 37 22 17072267 17072267 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 17072267 17072267 C T SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.1174 p.V392I 0.917 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 43 0 0 39 20 33.8983 CCT8L2 0 genome.wustl.edu 37 22 17072678 17072678 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 17072678 17072678 C A SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.763 p.A255S 0.004 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 68 0 0 54 25 31.6456 DGCR2 0 genome.wustl.edu 37 22 19055664 19055664 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 19055664 19055664 C T SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.277 p.D93N 0.997 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 23 0 0 16 9 36 HIRA 0 genome.wustl.edu 37 22 19379688 19379688 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 19379688 19379688 G A SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.872 p.A291V 0.899 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat 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 32 0 0 34 13 27.6596 TXNRD2 0 genome.wustl.edu 37 22 19882652 19882652 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 19882652 19882652 C T SNP TXNRD2 ENST00000491939 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TXNRD2 HGNC ENSG00000184470 29 0 0 14 7 33.3333 KLHL22 0 genome.wustl.edu 37 22 20819360 20819360 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 20819360 20819360 G A SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known silent c.897 p.C299 0.516 smart_Kelch_1,pirsf_Kelch-like_gigaxonin 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 52 0 0 26 13 33.3333 LZTR1 0 genome.wustl.edu 37 22 21351217 21351217 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 21351217 21351217 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.2368 p.R790W 1.000 superfamily_BTB/POZ_fold pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 40 0 0 44 12 21.4286 GGTLC2 0 genome.wustl.edu 37 22 22989563 22989563 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 22989563 22989563 C T SNP GGTLC2 ENST00000448514 human ensembl 74_37 +1 known silent c.415 p.L139 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC2 HGNC ENSG00000100121 70 0 0 49 21 30 POM121L9P 0 genome.wustl.edu 37 22 24659690 24659690 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 24659690 24659690 C T SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.896 - - - no_errors POM121L9P HGNC ENSG00000128262 25 0 0 19 5 20.8333 PIWIL3 0 genome.wustl.edu 37 22 25145382 25145382 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 25145382 25145382 A G SNP PIWIL3 ENST00000332271 human ensembl 74_37 -1 known silent c.1323 p.N441 0.000 superfamily_RNaseH-like_dom,superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 114 0 0 82 37 31.0924 HPS4 0 genome.wustl.edu 37 22 26861510 26861510 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 26861510 26861510 T C SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.753 p.A251 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 66 0 0 71 8 10.1266 HPS4 0 genome.wustl.edu 37 22 26868359 26868359 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 26868359 26868359 G A SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known missense c.395 p.T132M 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 109 0 0 70 44 38.5965 CRYBB1 0 genome.wustl.edu 37 22 27012211 27012211 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 27012211 27012211 C A SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.73 p.G25W 0.890 NULL 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 41 0 0 46 19 29.2308 AP1B1 0 genome.wustl.edu 37 22 29755831 29755831 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 29755831 29755831 G A SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known silent c.261 p.A87 0.180 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 99 0 0 56 21 27.2727 MYH9 0 genome.wustl.edu 37 22 36702620 36702620 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 36702620 36702620 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.1877 p.G626D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 30 0 0 30 3 9.09091 MYH9 0 genome.wustl.edu 37 22 36708256 36708256 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 36708256 36708256 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.1566 p.P522 0.006 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 30 0 0 36 17 32.0755 PLA2G6 0 genome.wustl.edu 37 22 38525530 38525530 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 38525530 38525530 C T SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.1117 p.G373R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 73 0 0 59 31 34.4444 KCNJ4 0 genome.wustl.edu 37 22 38823343 38823343 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 38823343 38823343 G A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.795 p.I265 0.940 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_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 45 0 0 40 15 27.2727 SUN2 0 genome.wustl.edu 37 22 39147378 39147378 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 39147378 39147378 C A SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known missense c.123 p.R41S 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 36 0 0 31 2 6.06061 TAB1 0 genome.wustl.edu 37 22 39826041 39826041 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 39826041 39826041 G T SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known silent c.1329 p.L443 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 78 0 0 49 27 35.5263 CACNA1I 0 genome.wustl.edu 37 22 40075136 40075136 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 40075136 40075136 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.5098 p.D1700N 0.833 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 13 0 0 5 7 58.3333 EP300 0 genome.wustl.edu 37 22 41564766 41564766 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 41564766 41564766 G A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.4067 p.R1356Q 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 72 0 0 62 16 20.5128 RANGAP1 0 genome.wustl.edu 37 22 41652106 41652106 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 41652106 41652106 T C SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.992 p.N331S 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 37 0 0 28 16 36.3636 A4GALT 0 genome.wustl.edu 37 22 43089153 43089153 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 43089153 43089153 C T SNP A4GALT ENST00000249005 human ensembl 74_37 -1 known missense c.805 p.E269K 0.001 pfam_A1-4-GlycosylTfrase_dom pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ENSG00000128274 9 0 0 1 8 88.8889 SCUBE1 0 genome.wustl.edu 37 22 43604220 43604220 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 43604220 43604220 C A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.2592 p.T864 0.001 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 64 0 0 37 25 40.3226 FBLN1 0 genome.wustl.edu 37 22 45972965 45972965 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 45972965 45972965 G A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1949 p.R650H 1.000 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 56 0 0 43 21 32.8125 CDPF1 0 genome.wustl.edu 37 22 46643046 46643046 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 46643046 46643046 C T SNP CDPF1 ENST00000381037 human ensembl 74_37 -1 known silent c.186 p.S62 0.000 pfam_Cys-rich_DPF,prints_Cys-rich_DPF pfam_Cys-rich_DPF,prints_Cys-rich_DPF - no_errors CDPF1 HGNC ENSG00000205643 25 0 0 16 9 36 GRAMD4 0 genome.wustl.edu 37 22 47064782 47064782 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 47064782 47064782 A T SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.1061 p.Y354F 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 46 0 0 32 20 38.4615 TUBGCP6 0 genome.wustl.edu 37 22 50663014 50663014 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 50663014 50663014 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.1991 p.R664H 0.949 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 48 0 0 31 22 41.5094 PLXNB2 0 genome.wustl.edu 37 22 50716155 50716155 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 50716155 50716155 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.5061 p.R1687 0.825 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 105 0 0 62 26 29.5455 PLXNB2 0 genome.wustl.edu 37 22 50728968 50728968 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 50728968 50728968 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.46 p.A16T 0.000 pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 17 0 0 12 7 36.8421 SCO2 0 genome.wustl.edu 37 22 50962178 50962178 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 50962178 50962178 G A SNP SCO2 ENST00000252785 human ensembl 74_37 -1 known silent c.663 p.I221 0.597 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC ENSG00000130489 138 0 0 111 54 32.7273 SHANK3 0 genome.wustl.edu 37 22 51160465 51160465 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 51160465 51160465 G A SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known missense c.4252 p.G1418R 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,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 SHANK3 HGNC ENSG00000251322 19 0 0 18 9 33.3333 DPPA4 0 genome.wustl.edu 37 3 109050737 109050737 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 109050737 109050737 T C SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known missense c.320 p.K107R 0.000 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 76 0 0 87 7 7.44681 GSK3B 0 genome.wustl.edu 37 3 119631658 119631658 + Splice_Site SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 119631658 119631658 C G SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known splice_site c.609-1 e6-1 1.000 - - - no_errors GSK3B HGNC ENSG00000082701 29 0 0 24 15 38.4615 POLQ 0 genome.wustl.edu 37 3 121230875 121230875 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 121230875 121230875 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.1470 p.G490 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C 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 47 0 0 44 23 34.3284 ADCY5 0 genome.wustl.edu 37 3 123051470 123051470 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 123051470 123051470 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.1459 p.A487T 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 35 0 0 30 11 26.8293 MYLK 0 genome.wustl.edu 37 3 123427553 123427553 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 123427553 123427553 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.2132 p.T711M 0.976 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 56 0 0 27 14 34.1463 ITGB5 0 genome.wustl.edu 37 3 124485139 124485139 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 124485139 124485139 C T SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known missense c.2071 p.V691I 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 59 0 0 58 41 41.4141 KLF15 0 genome.wustl.edu 37 3 126062587 126062587 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 126062587 126062587 C T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.1234 p.V412M 0.256 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 32 0 0 25 4 13.7931 XRN1 0 genome.wustl.edu 37 3 142122802 142122802 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 142122802 142122802 C T SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.1913 p.R638H 0.997 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 38 0 0 35 13 27.0833 PAQR9 0 genome.wustl.edu 37 3 142681763 142681763 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 142681763 142681763 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.416 p.A139V 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 33 0 0 17 12 41.3793 PLSCR1 0 genome.wustl.edu 37 3 146254325 146254325 + Splice_Site SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 146254325 146254325 A C SNP PLSCR1 ENST00000342435 human ensembl 74_37 -1 known splice_site c.13+2 e1+2 0.993 - - - no_errors PLSCR1 HGNC ENSG00000188313 54 0 0 44 3 6.38298 AADACL2 0 genome.wustl.edu 37 3 151458608 151458608 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 151458608 151458608 C T SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known nonsense c.313 p.R105* 0.016 pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 78 0 0 56 23 29.1139 DHX36 0 genome.wustl.edu 37 3 154007599 154007599 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 154007599 154007599 A T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.1831 p.C611S 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C 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 33 0 0 35 11 23.913 PLCH1 0 genome.wustl.edu 37 3 155301426 155301426 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 155301426 155301426 G A SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.570 p.A190 0.008 smart_EF_hand_dom,pfscan_EF_hand_dom 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 PLCH1 HGNC ENSG00000114805 47 0 0 39 22 36.0656 RARRES1 0 genome.wustl.edu 37 3 158428614 158428614 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 158428614 158428614 C T SNP RARRES1 ENST00000237696 human ensembl 74_37 -1 known missense c.448 p.E150K 0.004 pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin - no_errors RARRES1 HGNC ENSG00000118849 89 0 0 86 29 25.2174 IL12A-AS1 0 genome.wustl.edu 37 3 159706993 159706993 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 159706993 159706993 G A SNP IL12A-AS1 ENST00000497452 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IL12A-AS1 HGNC ENSG00000244040 13 0 0 7 6 46.1538 RFTN1 0 genome.wustl.edu 37 3 16358730 16358730 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 16358730 16358730 G A SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known nonsense c.1342 p.R448* 1.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 53 0 0 39 13 25 ZBBX 0 genome.wustl.edu 37 3 167077712 167077712 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 167077712 167077712 T G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.378 p.K126N 0.119 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 34 0 0 41 19 31.6667 SLC7A14 0 genome.wustl.edu 37 3 170204127 170204127 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 170204127 170204127 C T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.790 p.A264T 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 66 0 0 51 28 35.443 SLC7A14 0 genome.wustl.edu 37 3 170218991 170218991 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 170218991 170218991 C T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.448 p.G150R 0.997 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 31 0 0 26 9 25.7143 PLCL2 0 genome.wustl.edu 37 3 17051544 17051544 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 17051544 17051544 G A SNP PLCL2 ENST00000418129 human ensembl 74_37 +1 known missense c.328 p.A110T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 123 0 0 114 66 36.6667 MCCC1 0 genome.wustl.edu 37 3 182743546 182743546 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 182743546 182743546 C T SNP MCCC1 ENST00000265594 human ensembl 74_37 -1 known missense c.1728 p.M576I 1.000 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 55 0 0 54 25 31.6456 AP2M1 0 genome.wustl.edu 37 3 183896808 183896808 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 183896808 183896808 G A SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known missense c.238 p.E80K 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 111 0 0 81 32 28.3186 THPO 0 genome.wustl.edu 37 3 184090371 184090371 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 184090371 184090371 G A SNP THPO ENST00000204615 human ensembl 74_37 -1 known missense c.992 p.T331M 0.000 NULL pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 90 0 0 63 35 35.7143 IGF2BP2 0 genome.wustl.edu 37 3 185375140 185375140 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 185375140 185375140 G A SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known silent c.1320 p.G440 0.052 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 46 0 0 33 22 40 HRG 0 genome.wustl.edu 37 3 186395437 186395437 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 186395437 186395437 G A SNP HRG ENST00000232003 human ensembl 74_37 +1 known missense c.1343 p.R448H 0.103 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 68 0 0 52 22 29.7297 LPP 0 genome.wustl.edu 37 3 188123957 188123957 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 188123957 188123957 G A SNP LPP ENST00000312675 human ensembl 74_37 +1 known missense c.49 p.G17S 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 229 0 0 153 68 30.7692 GP5 0 genome.wustl.edu 37 3 194118379 194118379 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 194118379 194118379 C T SNP GP5 ENST00000323007 human ensembl 74_37 -1 known silent c.633 p.S211 0.012 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 99 0 0 63 39 38.2353 TNK2 0 genome.wustl.edu 37 3 195594978 195594978 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 195594978 195594978 T C SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.2380 p.R794G 0.993 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 14 0 0 12 5 29.4118 RAB5A 0 genome.wustl.edu 37 3 20025266 20025266 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 20025266 20025266 A G SNP RAB5A ENST00000273047 human ensembl 74_37 +1 known missense c.599 p.D200G 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5A HGNC ENSG00000144566 45 0 0 64 4 5.88235 KAT2B 0 genome.wustl.edu 37 3 20153198 20153198 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 20153198 20153198 G A SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.962 p.R321Q 0.914 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 106 0 0 73 36 33.0275 SGOL1 0 genome.wustl.edu 37 3 20225413 20225413 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 20225413 20225413 C T SNP SGOL1 ENST00000263753 human ensembl 74_37 -1 known missense c.107 p.R36H 0.483 pfam_Shugoshin_N pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 54 0 0 58 26 30.9524 PDCD6IP 0 genome.wustl.edu 37 3 33877588 33877588 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 33877588 33877588 A T SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.902 p.N301I 0.998 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 99 0 0 85 48 36.0902 LRRFIP2 0 genome.wustl.edu 37 3 37170567 37170567 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 37170567 37170567 C T SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known missense c.164 p.R55Q 1.000 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 87 0 0 57 29 33.7209 XYLB 0 genome.wustl.edu 37 3 38414150 38414150 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 38414150 38414150 C T SNP XYLB ENST00000207870 human ensembl 74_37 +1 known missense c.770 p.A257V 0.530 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N - no_errors XYLB HGNC ENSG00000093217 49 0 0 53 10 15.873 RPSA 0 genome.wustl.edu 37 3 39453213 39453213 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 39453213 39453213 G A SNP RPSA ENST00000301821 human ensembl 74_37 +1 known missense c.572 p.R191H 1.000 superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSA HGNC ENSG00000168028 42 0 0 39 4 9.30233 ZKSCAN7 0 genome.wustl.edu 37 3 44612793 44612793 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 44612793 44612793 C T SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.2191 p.R731C 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 74 0 0 74 35 32.1101 PTH1R 0 genome.wustl.edu 37 3 46943318 46943318 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 46943318 46943318 C T SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known silent c.1179 p.N393 0.981 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 38 0 0 19 5 20.8333 ARIH2 0 genome.wustl.edu 37 3 49004710 49004710 + Splice_Site SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 49004710 49004710 T C SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known splice_site c.538+2 e4+2 1.000 - - - no_errors ARIH2 HGNC ENSG00000177479 62 0 0 36 22 37.931 LAMB2 0 genome.wustl.edu 37 3 49159606 49159606 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 49159606 49159606 G A SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.4771 p.R1591W 1.000 NULL 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 52 0 0 33 9 21.4286 AMIGO3 0 genome.wustl.edu 37 3 49756307 49756307 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 49756307 49756307 T C SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.592 p.I198V 0.057 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 52 0 0 25 12 32.4324 CAMKV 0 genome.wustl.edu 37 3 49897038 49897038 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 49897038 49897038 C T SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.1219 p.D407N 0.993 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 CAMKV HGNC ENSG00000164076 101 0 0 70 33 32.0388 RBM6 0 genome.wustl.edu 37 3 50099537 50099537 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 50099537 50099537 C T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.2582 p.T861M 0.031 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 75 0 0 66 27 29.0323 SEMA3F 0 genome.wustl.edu 37 3 50211341 50211341 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 50211341 50211341 C T SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known silent c.228 p.Y76 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 52 0 0 35 22 38.5965 RASSF1 0 genome.wustl.edu 37 3 50369011 50369011 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 50369011 50369011 G A SNP RASSF1 ENST00000357043 human ensembl 74_37 -1 known missense c.751 p.R251C 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC ENSG00000068028 83 0 0 60 28 31.8182 NISCH 0 genome.wustl.edu 37 3 52522196 52522196 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 52522196 52522196 G A SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.2688 p.A896 0.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 38 0 0 23 15 39.4737 STAB1 0 genome.wustl.edu 37 3 52557277 52557277 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 52557277 52557277 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.7060 p.D2354N 0.982 superfamily_FAS1_domain,pfscan_FAS1_domain 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 81 0 0 73 22 23.1579 PBRM1 0 genome.wustl.edu 37 3 52595936 52595936 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 52595936 52595936 G A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.4135 p.R1379W 0.991 superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 116 0 0 94 9 8.73786 SFMBT1 0 genome.wustl.edu 37 3 52941285 52941285 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 52941285 52941285 C A SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known missense c.2131 p.D711Y 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 79 0 0 67 21 23.8636 CADPS 0 genome.wustl.edu 37 3 62477973 62477973 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 62477973 62477973 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.2876 p.R959H 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 207 1 0.480769 167 90 35.0195 PDZRN3 0 genome.wustl.edu 37 3 73432742 73432742 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 73432742 73432742 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.2975 p.R992H 1.000 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 100 0 0 73 39 34.8214 PDZRN3 0 genome.wustl.edu 37 3 73432975 73432975 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 73432975 73432975 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.2742 p.P914 0.000 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 62 0 0 24 17 41.4634 GRM7 0 genome.wustl.edu 37 3 7503408 7503408 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 7503408 7503408 A T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.1514 p.N505I 0.998 superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_4 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 125 0 0 102 10 8.92857 ROBO1 0 genome.wustl.edu 37 3 78685077 78685077 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 78685077 78685077 G A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known silent c.3219 p.Y1073 0.154 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 106 0 0 75 33 30.5556 CMSS1 0 genome.wustl.edu 37 3 99890707 99890707 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 99890707 99890707 C T SNP CMSS1 ENST00000421999 human ensembl 74_37 +1 known silent c.543 p.D181 0.995 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors CMSS1 HGNC ENSG00000184220 63 0 0 62 19 23.4568 CASP6 0 genome.wustl.edu 37 4 110618908 110618908 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 110618908 110618908 C T SNP CASP6 ENST00000265164 human ensembl 74_37 -1 known missense c.100 p.A34T 0.017 NULL pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP6 HGNC ENSG00000138794 38 0 0 53 5 8.62069 RRH 0 genome.wustl.edu 37 4 110757242 110757242 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 110757242 110757242 T C SNP RRH ENST00000317735 human ensembl 74_37 +1 known silent c.477 p.P159 0.018 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_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 125 1 0.793651 109 48 30.5732 AP1AR 0 genome.wustl.edu 37 4 113189356 113189356 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 113189356 113189356 C T SNP AP1AR ENST00000274000 human ensembl 74_37 +1 known missense c.700 p.R234W 0.950 NULL NULL - no_errors AP1AR HGNC ENSG00000138660 57 0 0 59 35 37.234 C4orf21 0 genome.wustl.edu 37 4 113462250 113462250 + Missense_Mutation SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 113462250 113462250 G C SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.5773 p.Q1925E 1.000 superfamily_P-loop_NTPase pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 20 0 0 6 3 33.3333 ZNF718 0 genome.wustl.edu 37 4 124517 124517 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 124517 124517 G A SNP ZNF718 ENST00000510175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF718 HGNC ENSG00000250312 98 0 0 76 14 15.5556 FAT4 0 genome.wustl.edu 37 4 126238642 126238642 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 126238642 126238642 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1076 p.P359L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 47 0 0 41 13 24.0741 UVSSA 0 genome.wustl.edu 37 4 1348916 1348916 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 1348916 1348916 C T SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known silent c.1059 p.R353 0.144 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 36 0 0 14 10 41.6667 C1QTNF7 0 genome.wustl.edu 37 4 15444178 15444178 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 15444178 15444178 G A SNP C1QTNF7 ENST00000429690 human ensembl 74_37 +1 known missense c.625 p.G209R 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC ENSG00000163145 216 0 0 178 76 29.9213 KLHL2 0 genome.wustl.edu 37 4 166238981 166238981 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 166238981 166238981 T G SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known missense c.1613 p.V538G 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 69 0 0 68 38 35.8491 SPOCK3 0 genome.wustl.edu 37 4 167675677 167675677 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 167675677 167675677 A C SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.922 p.C308G 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 61 0 0 24 34 58.6207 PALLD 0 genome.wustl.edu 37 4 169812119 169812119 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 169812119 169812119 G T SNP PALLD ENST00000261509 human ensembl 74_37 +1 known nonsense c.2011 p.E671* 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PALLD HGNC ENSG00000129116 72 0 0 74 35 32.1101 NEK1 0 genome.wustl.edu 37 4 170345785 170345785 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 170345785 170345785 C T SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known silent c.3141 p.S1047 0.993 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 43 0 0 19 42 68.8525 TENM3 0 genome.wustl.edu 37 4 183600990 183600990 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 183600990 183600990 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.1498 p.K500E 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 16 0 0 6 6 50 MTNR1A 0 genome.wustl.edu 37 4 187455100 187455100 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 187455100 187455100 C T SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known missense c.796 p.A266T 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 107 0 0 36 88 70.9677 ZFYVE28 0 genome.wustl.edu 37 4 2306791 2306791 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 2306791 2306791 C T SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.1276 p.A426T 0.459 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 43 0 0 21 14 40 LGI2 0 genome.wustl.edu 37 4 25014047 25014047 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 25014047 25014047 C T SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.730 p.V244M 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 75 0 0 86 7 7.52688 ZCCHC4 0 genome.wustl.edu 37 4 25334863 25334863 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 25334863 25334863 C T SNP ZCCHC4 ENST00000302874 human ensembl 74_37 +1 known nonsense c.388 p.Q130* 1.000 NULL pfam_Znf_GRF,pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZCCHC4 HGNC ENSG00000168228 58 0 0 44 20 31.25 SLC34A2 0 genome.wustl.edu 37 4 25665888 25665888 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 25665888 25665888 C T SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known silent c.315 p.L105 0.997 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 83 0 0 69 38 35.514 TNIP2 0 genome.wustl.edu 37 4 2746454 2746454 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 2746454 2746454 C T SNP TNIP2 ENST00000315423 human ensembl 74_37 -1 known silent c.876 p.A292 0.012 NULL pfam_EABR - no_errors TNIP2 HGNC ENSG00000168884 43 0 0 31 17 35.4167 NOP14 0 genome.wustl.edu 37 4 2948228 2948228 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 2948228 2948228 C T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.1546 p.A516T 0.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 71 0 0 43 19 30.6452 CHRNA9 0 genome.wustl.edu 37 4 40356371 40356371 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 40356371 40356371 C T SNP CHRNA9 ENST00000310169 human ensembl 74_37 +1 known missense c.1274 p.T425M 0.986 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 60 0 0 47 21 30.8824 BEND4 0 genome.wustl.edu 37 4 42119703 42119703 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 42119703 42119703 C T SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known silent c.1437 p.S479 0.009 pfam_BEN_domain pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 14 0 0 14 6 30 ZBTB49 0 genome.wustl.edu 37 4 4304088 4304088 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 4304088 4304088 G A SNP ZBTB49 ENST00000503703 human ensembl 74_37 +1 known missense c.203 p.R68H 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,pfscan_BTB/POZ-like - no_errors ZBTB49 HGNC ENSG00000168826 108 1 0.917431 87 21 19.4444 FRYL 0 genome.wustl.edu 37 4 48569288 48569288 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 48569288 48569288 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.3146 p.A1049V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 33 0 0 19 12 38.7097 DCUN1D4 0 genome.wustl.edu 37 4 52779825 52779825 + RNA SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 52779825 52779825 A G SNP DCUN1D4 ENST00000508257 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors DCUN1D4 HGNC ENSG00000109184 37 0 0 29 12 29.2683 LRRC66 0 genome.wustl.edu 37 4 52861190 52861190 + Silent SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 52861190 52861190 T G SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known silent c.1998 p.P666 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 66 0 0 48 28 36.8421 GSX2 0 genome.wustl.edu 37 4 54966533 54966533 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 54966533 54966533 G A SNP GSX2 ENST00000326902 human ensembl 74_37 +1 known missense c.22 p.D8N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GSX2 HGNC ENSG00000180613 21 0 0 18 5 21.7391 EVC2 0 genome.wustl.edu 37 4 5664926 5664926 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 5664926 5664926 A G SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.1053 p.A351 0.000 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 85 0 0 83 7 7.77778 KIAA1211 0 genome.wustl.edu 37 4 57181853 57181853 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 57181853 57181853 T C SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.2185 p.S729P 0.999 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 81 0 0 65 33 33.6735 EVC 0 genome.wustl.edu 37 4 5733277 5733277 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 5733277 5733277 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.510 p.D170 0.542 NULL NULL - no_errors EVC HGNC ENSG00000072840 87 0 0 55 20 26.6667 CRMP1 0 genome.wustl.edu 37 4 5862758 5862758 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 5862758 5862758 A G SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.650 p.M217T 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 34 0 0 17 11 39.2857 CSN3 0 genome.wustl.edu 37 4 71114781 71114781 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 71114781 71114781 C T SNP CSN3 ENST00000304954 human ensembl 74_37 +1 known missense c.154 p.P52S 0.000 pfam_Casein_kappa,pirsf_Casein_kappa pfam_Casein_kappa,pirsf_Casein_kappa - no_errors CSN3 HGNC ENSG00000171209 92 0 0 67 32 32.3232 CABS1 0 genome.wustl.edu 37 4 71201047 71201047 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 71201047 71201047 C A SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known silent c.291 p.T97 0.001 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 81 0 0 69 21 23.3333 NAAA 0 genome.wustl.edu 37 4 76842177 76842177 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 76842177 76842177 G A SNP NAAA ENST00000286733 human ensembl 74_37 -1 known missense c.766 p.R256W 0.000 pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors NAAA HGNC ENSG00000138744 46 0 0 41 35 46.0526 AFAP1-AS1 0 genome.wustl.edu 37 4 7776691 7776691 + RNA SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 7776691 7776691 C A SNP AFAP1-AS1 ENST00000608442 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AFAP1-AS1 HGNC ENSG00000272620 37 0 0 42 12 22.2222 SOWAHB 0 genome.wustl.edu 37 4 77817102 77817102 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 77817102 77817102 G A SNP SOWAHB ENST00000334306 human ensembl 74_37 -1 known missense c.1901 p.A634V 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_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 SOWAHB HGNC ENSG00000186212 119 0 0 111 49 30.625 FRAS1 0 genome.wustl.edu 37 4 79371314 79371314 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 79371314 79371314 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.6284 p.A2095V 0.974 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 93 0 0 71 29 29 PRDM8 0 genome.wustl.edu 37 4 81122567 81122567 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 81122567 81122567 C T SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known missense c.343 p.R115C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 58 0 0 51 19 27.1429 BMP3 0 genome.wustl.edu 37 4 81952623 81952623 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 81952623 81952623 G A SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.185 p.R62Q 0.847 pfam_TGF-b_N,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 27 0 0 20 5 20 SLC10A6 0 genome.wustl.edu 37 4 87754575 87754575 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 87754575 87754575 A G SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known missense c.380 p.I127T 1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 76 0 0 82 9 9.89011 KLHL8 0 genome.wustl.edu 37 4 88091757 88091757 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 88091757 88091757 C T SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.1219 p.A407T 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 60 0 0 65 19 22.619 HERC5 0 genome.wustl.edu 37 4 89388315 89388315 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 89388315 89388315 G A SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known silent c.1017 p.P339 0.821 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 95 0 0 78 35 30.9735 PDHA2 0 genome.wustl.edu 37 4 96761964 96761964 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 96761964 96761964 G T SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.663 p.E221D 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 76 0 0 48 12 20 DRD5 0 genome.wustl.edu 37 4 9784659 9784659 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 9784659 9784659 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.1006 p.V336I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 86 0 0 80 33 29.2035 TSPAN5 0 genome.wustl.edu 37 4 99397385 99397385 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 99397385 99397385 A T SNP TSPAN5 ENST00000305798 human ensembl 74_37 -1 known missense c.696 p.N232K 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 71 0 0 71 13 15.4762 SLC2A9 0 genome.wustl.edu 37 4 9987317 9987317 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 9987317 9987317 G A SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known missense c.511 p.R171C 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 58 0 0 52 21 28.7671 CDO1 0 genome.wustl.edu 37 5 115152216 115152216 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 115152216 115152216 G A SNP CDO1 ENST00000504613 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors CDO1 HGNC ENSG00000129596 14 0 0 13 8 38.0952 AQPEP 0 genome.wustl.edu 37 5 115299005 115299005 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 115299005 115299005 C T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.691 p.R231C 0.993 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 27 0 0 17 9 34.6154 ZNF474 0 genome.wustl.edu 37 5 121488203 121488203 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 121488203 121488203 G A SNP ZNF474 ENST00000296600 human ensembl 74_37 +1 known missense c.518 p.R173H 0.997 pfscan_Znf_C2H2 pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 55 0 0 35 26 42.623 SNCAIP 0 genome.wustl.edu 37 5 121776408 121776408 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 121776408 121776408 G A SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.1522 p.V508I 0.994 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 SNCAIP HGNC ENSG00000064692 102 0 0 78 44 36.0656 CSNK1G3 0 genome.wustl.edu 37 5 122941058 122941058 + Splice_Site SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 122941058 122941058 T C SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known splice_site c.1313+2 e12+2 1.000 - - - no_errors CSNK1G3 HGNC ENSG00000151292 53 0 0 48 22 31.4286 ZNF608 0 genome.wustl.edu 37 5 123983851 123983851 + Silent SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 123983851 123983851 T A SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known silent c.2226 p.P742 0.053 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 27 0 0 20 8 28.5714 ZNF608 0 genome.wustl.edu 37 5 123984642 123984642 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 123984642 123984642 G A SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known nonsense c.1435 p.R479* 0.947 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 78 0 0 56 26 31.7073 PRRC1 0 genome.wustl.edu 37 5 126874760 126874760 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 126874760 126874760 G A SNP PRRC1 ENST00000512635 human ensembl 74_37 +1 known missense c.950 p.R317H 1.000 pfam_NTPase/PRRC1 pfam_NTPase/PRRC1 - no_errors PRRC1 HGNC ENSG00000164244 83 0 0 47 24 33.8028 P4HA2 0 genome.wustl.edu 37 5 131543466 131543466 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 131543466 131543466 C T SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known missense c.1015 p.V339I 1.000 smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 125 1 0.793651 117 56 32.3699 PDLIM4 0 genome.wustl.edu 37 5 131606656 131606656 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 131606656 131606656 C T SNP PDLIM4 ENST00000253754 human ensembl 74_37 +1 known missense c.376 p.P126S 0.064 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 120 1 0.826446 94 22 18.9655 RAD50 0 genome.wustl.edu 37 5 131953826 131953826 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 131953826 131953826 C T SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known nonsense c.3229 p.R1077* 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 196 0 0 162 61 27.3543 TRPC7 0 genome.wustl.edu 37 5 135692750 135692750 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 135692750 135692750 G A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.326 p.A109V 0.999 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,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 49 0 0 31 14 31.1111 FAM13B 0 genome.wustl.edu 37 5 137278577 137278577 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 137278577 137278577 G A SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known nonsense c.2509 p.R837* 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 74 0 0 63 33 34.375 FAM13B 0 genome.wustl.edu 37 5 137289904 137289904 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 137289904 137289904 G A SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.1603 p.H535Y 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 61 0 0 53 30 36.1446 WNT8A 0 genome.wustl.edu 37 5 137420203 137420203 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 137420203 137420203 C T SNP WNT8A ENST00000361560 human ensembl 74_37 +1 known missense c.119 p.T40M 0.976 pfam_Wnt,smart_Wnt,prints_Wnt8 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8A HGNC ENSG00000061492 65 0 0 43 28 39.4366 NRG2 0 genome.wustl.edu 37 5 139251390 139251390 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 139251390 139251390 C T SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known missense c.1028 p.R343Q 1.000 pfscan_EG-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 76 0 0 68 22 24.4444 PCDHA1 0 genome.wustl.edu 37 5 140166534 140166534 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140166534 140166534 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.659 p.P220L 0.999 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 PCDHA1 HGNC ENSG00000204970 57 0 0 63 24 27.5862 PCDHA1 0 genome.wustl.edu 37 5 140167731 140167731 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140167731 140167731 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1856 p.R619H 0.707 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 PCDHA1 HGNC ENSG00000204970 75 0 0 86 8 8.51064 PCDHA3 0 genome.wustl.edu 37 5 140182842 140182842 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140182842 140182842 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.2060 p.T687M 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 77 0 0 51 24 32 PCDHA5 0 genome.wustl.edu 37 5 140202765 140202765 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140202765 140202765 C A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1405 p.P469T 0.801 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 79 0 0 74 26 26 PCDHA6 0 genome.wustl.edu 37 5 140209889 140209889 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140209889 140209889 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.2213 p.T738M 0.024 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 55 0 0 31 21 40.3846 PCDHA7 0 genome.wustl.edu 37 5 140215576 140215576 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140215576 140215576 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.1608 p.S536 0.524 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 112 0 0 72 33 31.4286 PCDHA13 0 genome.wustl.edu 37 5 140263515 140263515 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140263515 140263515 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1662 p.F554 0.972 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 114 0 0 81 48 37.2093 PCDHA13 0 genome.wustl.edu 37 5 140264043 140264043 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140264043 140264043 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.2190 p.G730 0.538 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 89 0 0 60 16 21.0526 PCDHAC1 0 genome.wustl.edu 37 5 140306840 140306840 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140306840 140306840 A G SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.363 p.S121 0.394 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 59 0 0 33 18 35.2941 PCDHB7 0 genome.wustl.edu 37 5 140553146 140553146 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140553146 140553146 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.730 p.R244W 0.996 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 64 0 0 44 26 37.1429 PCDHB7 0 genome.wustl.edu 37 5 140554034 140554034 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140554034 140554034 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1618 p.A540T 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 78 0 0 45 21 31.8182 PCDHB16 0 genome.wustl.edu 37 5 140564007 140564007 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140564007 140564007 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1873 p.R625C 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 PCDHB16 HGNC ENSG00000196963 36 0 0 17 10 37.037 PCDHGB4 0 genome.wustl.edu 37 5 140768432 140768432 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 140768432 140768432 G A SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known silent c.981 p.A327 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 PCDHGB4 HGNC ENSG00000253953 53 0 0 47 12 20.339 ARHGAP26 0 genome.wustl.edu 37 5 142437258 142437258 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 142437258 142437258 G A SNP ARHGAP26 ENST00000274498 human ensembl 74_37 +1 known missense c.1484 p.R495Q 1.000 pfam_RhoGAP_dom,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 129 0 0 93 34 26.7717 ARHGAP26 0 genome.wustl.edu 37 5 142513670 142513670 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 142513670 142513670 C T SNP ARHGAP26 ENST00000274498 human ensembl 74_37 +1 known nonsense c.1837 p.Q613* 1.000 NULL 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 87 0 0 61 29 32.2222 SH3RF2 0 genome.wustl.edu 37 5 145393517 145393517 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 145393517 145393517 C T SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known missense c.952 p.R318C 1.000 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 126 0 0 95 48 33.5664 LPCAT1 0 genome.wustl.edu 37 5 1466903 1466903 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 1466903 1466903 G A SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known nonsense c.1381 p.R461* 0.099 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 68 0 0 63 7 10 DPYSL3 0 genome.wustl.edu 37 5 146778698 146778698 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 146778698 146778698 C T SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.1228 p.V410I 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 120 1 0.826446 106 62 36.9048 ANKH 0 genome.wustl.edu 37 5 14769138 14769138 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 14769138 14769138 C T SNP ANKH ENST00000284268 human ensembl 74_37 -1 known missense c.259 p.V87I 0.993 pfam_ANKH pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 48 0 0 31 16 34.0426 ABLIM3 0 genome.wustl.edu 37 5 148577904 148577904 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 148577904 148577904 G A SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known missense c.274 p.E92K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 53 0 0 43 20 31.746 PDE6A 0 genome.wustl.edu 37 5 149263008 149263008 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 149263008 149263008 G A SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.2119 p.R707W 0.554 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 36 0 0 16 10 38.4615 FAT2 0 genome.wustl.edu 37 5 150948236 150948236 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 150948236 150948236 T G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.257 p.E86A 0.980 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 242 0 0 211 82 27.9863 ADRA1B 0 genome.wustl.edu 37 5 159399008 159399008 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 159399008 159399008 G A SNP ADRA1B ENST00000306675 human ensembl 74_37 +1 known missense c.1072 p.A358T 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_ADR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1B HGNC ENSG00000170214 37 0 0 32 13 28.8889 FBLL1 0 genome.wustl.edu 37 5 167957486 167957486 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 167957486 167957486 G A SNP FBLL1 ENST00000338333 human ensembl 74_37 +1 putative missense c.977 p.R326Q 1.000 pfam_Fibrillarin,pirsf_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBLL1 HGNC ENSG00000188573 13 0 0 11 6 35.2941 DOCK2 0 genome.wustl.edu 37 5 169129410 169129410 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 169129410 169129410 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.1362 p.A454 0.493 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 69 0 0 59 16 21.3333 GABRP 0 genome.wustl.edu 37 5 170236617 170236617 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 170236617 170236617 G A SNP GABRP ENST00000265294 human ensembl 74_37 +1 known missense c.878 p.R293H 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 161 0 0 158 75 32.1888 STK10 0 genome.wustl.edu 37 5 171614943 171614943 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 171614943 171614943 A G SNP STK10 ENST00000176763 human ensembl 74_37 -1 known missense c.104 p.V35A 1.000 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK10 HGNC ENSG00000072786 19 0 0 11 6 35.2941 CREBRF 0 genome.wustl.edu 37 5 172513563 172513563 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 172513563 172513563 G A SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known silent c.69 p.S23 0.996 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 101 0 0 80 50 38.4615 HMP19 0 genome.wustl.edu 37 5 173491266 173491266 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 173491266 173491266 C T SNP HMP19 ENST00000303177 human ensembl 74_37 +1 known missense c.161 p.P54L 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG2 Uniprot_gn ENSG00000170091 99 0 0 74 37 33.3333 FTH1P10 0 genome.wustl.edu 37 5 17354296 17354296 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 17354296 17354296 G A SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 0.966 - - - no_errors FTH1P10 HGNC ENSG00000223361 110 0 0 95 37 28.0303 KIAA1191 0 genome.wustl.edu 37 5 175774483 175774483 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 175774483 175774483 C T SNP KIAA1191 ENST00000393728 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors KIAA1191 HGNC ENSG00000122203 22 0 0 16 8 33.3333 HK3 0 genome.wustl.edu 37 5 176310832 176310832 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 176310832 176310832 C T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known silent c.1992 p.T664 0.799 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 84 0 0 74 38 33.9286 RUFY1 0 genome.wustl.edu 37 5 179021923 179021923 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 179021923 179021923 A T SNP RUFY1 ENST00000319449 human ensembl 74_37 +1 known missense c.1470 p.K490N 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC ENSG00000176783 39 0 0 40 20 33.3333 MGAT4B 0 genome.wustl.edu 37 5 179229020 179229020 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 179229020 179229020 C T SNP MGAT4B ENST00000337755 human ensembl 74_37 -1 known missense c.92 p.R31H 0.000 NULL pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 74 0 0 66 22 25 IRX4 0 genome.wustl.edu 37 5 1878859 1878859 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 1878859 1878859 C T SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known missense c.784 p.D262N 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 31 0 0 23 6 20.6897 C5orf38 0 genome.wustl.edu 37 5 2752844 2752844 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 2752844 2752844 G A SNP C5orf38 ENST00000334000 human ensembl 74_37 +1 known silent c.309 p.A103 0.001 NULL NULL - no_errors C5orf38 HGNC ENSG00000186493 63 0 0 45 19 29.6875 MTMR12 0 genome.wustl.edu 37 5 32230244 32230244 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 32230244 32230244 T C SNP MTMR12 ENST00000382142 human ensembl 74_37 -1 known silent c.1884 p.L628 0.998 pfam_Myotubularin_assoc pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 136 0 0 97 45 31.6901 ZFR 0 genome.wustl.edu 37 5 32404048 32404048 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 32404048 32404048 G A SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.1187 p.A396V 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 66 0 0 47 33 41.25 RAI14 0 genome.wustl.edu 37 5 34824014 34824014 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 34824014 34824014 C T SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known silent c.2076 p.N692 0.000 superfamily_UBA-like pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 75 0 0 65 10 13.3333 MROH2B 0 genome.wustl.edu 37 5 41009422 41009422 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 41009422 41009422 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.3380 p.T1127I 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 106 0 0 73 36 33.0275 C6 0 genome.wustl.edu 37 5 41203323 41203323 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 41203323 41203323 G A SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.10 p.R4C 0.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 98 0 0 90 27 23.0769 NIM1 0 genome.wustl.edu 37 5 43280635 43280635 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 43280635 43280635 G A SNP NIM1 ENST00000326035 human ensembl 74_37 +1 known missense c.1115 p.R372Q 0.684 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 NIM1 Uniprot_gn ENSG00000177453 111 0 0 130 20 13.3333 SLC9A3 0 genome.wustl.edu 37 5 488455 488455 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 488455 488455 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.651 p.S217 0.361 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 55 0 0 34 22 39.2857 PELO 0 genome.wustl.edu 37 5 52096812 52096812 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 52096812 52096812 G A SNP PELO ENST00000274311 human ensembl 74_37 +1 known missense c.584 p.R195H 1.000 pfam_eRF1_2,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 59 0 0 31 26 45.614 HTR1A 0 genome.wustl.edu 37 5 63256991 63256991 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 63256991 63256991 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.556 p.A186T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 122 0 0 49 41 45.5556 SREK1 0 genome.wustl.edu 37 5 65473381 65473381 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 65473381 65473381 C T SNP SREK1 ENST00000334121 human ensembl 74_37 +1 known silent c.1620 p.D540 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 89 0 0 53 36 40.4494 ZNF366 0 genome.wustl.edu 37 5 71756348 71756348 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 71756348 71756348 G A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.976 p.R326C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 63 0 0 26 19 42.2222 FCHO2 0 genome.wustl.edu 37 5 72377779 72377779 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 72377779 72377779 C T SNP FCHO2 ENST00000341845 human ensembl 74_37 +1 known missense c.2150 p.T717M 0.975 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 108 0 0 87 46 34.5865 UTP15 0 genome.wustl.edu 37 5 72868406 72868406 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 72868406 72868406 C T SNP UTP15 ENST00000296792 human ensembl 74_37 +1 known silent c.766 p.L256 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_U3_snoRNA-assocProt_15_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP15 HGNC ENSG00000164338 135 0 0 99 57 36.5385 ADCY2 0 genome.wustl.edu 37 5 7709334 7709334 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 7709334 7709334 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1412 p.R471Q 0.998 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 43 0 0 37 18 32.7273 HOMER1 0 genome.wustl.edu 37 5 78697766 78697766 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 78697766 78697766 G A SNP HOMER1 ENST00000334082 human ensembl 74_37 -1 known nonsense c.640 p.Q214* 1.000 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER1 HGNC ENSG00000152413 100 0 0 85 23 21.2963 ACOT12 0 genome.wustl.edu 37 5 80667576 80667576 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 80667576 80667576 C T SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known missense c.251 p.S84N 1.000 pfam_Thioestr_supf pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 87 0 0 67 23 25.5556 GPR98 0 genome.wustl.edu 37 5 89923028 89923028 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 89923028 89923028 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.673 p.V225I 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 9 0 0 6 6 50 NR2F1 0 genome.wustl.edu 37 5 92923762 92923762 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 92923762 92923762 G A SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known silent c.603 p.S201 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 41 0 0 26 17 39.5349 METTL24 0 genome.wustl.edu 37 6 110620298 110620298 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 110620298 110620298 C A SNP METTL24 ENST00000338882 human ensembl 74_37 -1 known missense c.613 p.V205L 1.000 NULL NULL - no_errors METTL24 HGNC ENSG00000053328 81 0 0 106 7 6.19469 GJA1 0 genome.wustl.edu 37 6 121768495 121768495 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 121768495 121768495 G A SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known missense c.502 p.A168T 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 122 0 0 79 38 32.4786 PTPRK 0 genome.wustl.edu 37 6 128318068 128318068 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 128318068 128318068 G T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.2781 p.N927K 1.000 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,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 26 0 0 16 5 23.8095 UTRN 0 genome.wustl.edu 37 6 144878337 144878337 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 144878337 144878337 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.7179 p.A2393 0.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 72 0 0 49 25 33.7838 EPM2A 0 genome.wustl.edu 37 6 145948796 145948796 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 145948796 145948796 A G SNP EPM2A ENST00000367519 human ensembl 74_37 -1 known missense c.752 p.L251P 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_CBM_fam20,superfamily_Carb-bd-like_fold,smart_Dual-sp_phosphatase_subgr_cat,pfscan_CBM_fam20,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors EPM2A HGNC ENSG00000112425 24 0 0 28 3 9.67742 SHPRH 0 genome.wustl.edu 37 6 146262872 146262872 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 146262872 146262872 G A SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.2377 p.R793C 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 55 0 0 57 18 24 ULBP1 0 genome.wustl.edu 37 6 150290280 150290280 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 150290280 150290280 G T SNP ULBP1 ENST00000229708 human ensembl 74_37 +1 known nonsense c.409 p.G137* 0.002 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 103 0 0 71 36 33.6449 SYNE1 0 genome.wustl.edu 37 6 152469223 152469223 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 152469223 152469223 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.24933 p.Q8311H 0.523 NULL 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 66 0 0 37 23 38.3333 TIAM2 0 genome.wustl.edu 37 6 155561718 155561718 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 155561718 155561718 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.3223 p.G1075S 0.003 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 63 0 0 44 24 35.2941 SYNJ2 0 genome.wustl.edu 37 6 158492720 158492720 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 158492720 158492720 G T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.2027 p.S676I 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 37 0 0 22 14 38.8889 ACAT2 0 genome.wustl.edu 37 6 160199806 160199806 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 160199806 160199806 C T SNP ACAT2 ENST00000541436 human ensembl 74_37 +1 known missense c.1226 p.A409V 0.397 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT2 HGNC ENSG00000120437 70 0 0 51 29 36.25 LPA 0 genome.wustl.edu 37 6 161027563 161027563 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 161027563 161027563 C T SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.2731 p.V911I 0.000 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 135 0 0 123 53 30.1136 PHF10 0 genome.wustl.edu 37 6 170118937 170118937 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 170118937 170118937 T C SNP PHF10 ENST00000339209 human ensembl 74_37 -1 known missense c.272 p.Q91R 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF10 HGNC ENSG00000130024 66 0 0 67 26 27.957 SLC17A3 0 genome.wustl.edu 37 6 25862609 25862609 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 25862609 25862609 G A SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known missense c.155 p.T52M 0.000 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 107 0 0 82 44 34.9206 ABT1 0 genome.wustl.edu 37 6 26598515 26598515 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 26598515 26598515 C T SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known missense c.461 p.S154F 0.996 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 96 0 0 75 29 27.8846 ZNF184 0 genome.wustl.edu 37 6 27419587 27419587 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 27419587 27419587 C T SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known missense c.1751 p.R584Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 70 0 0 60 31 34.0659 HIST1H3I 0 genome.wustl.edu 37 6 27839989 27839989 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 27839989 27839989 G A SNP HIST1H3I ENST00000328488 human ensembl 74_37 -1 known silent c.105 p.G35 0.992 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 57 0 0 47 12 20.339 PGBD1 0 genome.wustl.edu 37 6 28251732 28251732 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 28251732 28251732 C T SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.142 p.R48W 0.923 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 64 0 0 53 17 24.2857 LOC401242 0 genome.wustl.edu 37 6 28829774 28829774 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 28829774 28829774 G A SNP LOC401242 ENST00000440244 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors XXbac-BPG308K3.6 Clone_based_vega_gene ENSG00000225595 9 0 0 2 3 60 TRIM26 0 genome.wustl.edu 37 6 30154048 30154048 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 30154048 30154048 C T SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known missense c.1225 p.D409N 0.075 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 26 0 0 27 12 30.7692 ABCF1 0 genome.wustl.edu 37 6 30554313 30554313 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 30554313 30554313 A G SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.1948 p.M650V 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 ABCF1 HGNC ENSG00000204574 143 0 0 124 54 30.3371 GTF2H4 0 genome.wustl.edu 37 6 30879001 30879001 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 30879001 30879001 G T SNP GTF2H4 ENST00000259895 human ensembl 74_37 +1 known silent c.627 p.P209 0.947 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 - no_errors GTF2H4 HGNC ENSG00000213780 80 0 0 66 33 33.3333 TUBB2A 0 genome.wustl.edu 37 6 3154798 3154798 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 3154798 3154798 G A SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known missense c.637 p.R213C 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 111 0 0 68 46 40.3509 PRRC2A 0 genome.wustl.edu 37 6 31590652 31590652 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 31590652 31590652 A C SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.86 p.K29T 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 156 0 0 112 63 36 PRRC2A 0 genome.wustl.edu 37 6 31597497 31597497 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 31597497 31597497 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.2129 p.R710Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 16 0 0 16 5 23.8095 SAPCD1 0 genome.wustl.edu 37 6 31731318 31731318 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 31731318 31731318 G A SNP SAPCD1 ENST00000415669 human ensembl 74_37 +1 known missense c.241 p.G81R 0.998 pfam_APC_dom pfam_APC_dom - no_errors SAPCD1 HGNC ENSG00000228727 48 0 0 39 11 22 SLC44A4 0 genome.wustl.edu 37 6 31833884 31833884 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 31833884 31833884 G A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1253 p.S418L 0.962 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 92 0 0 69 36 34.2857 TNXB 0 genome.wustl.edu 37 6 32053800 32053800 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 32053800 32053800 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.2875 p.R959C 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 15 0 0 7 6 46.1538 EGFL8 0 genome.wustl.edu 37 6 32135153 32135153 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 32135153 32135153 G A SNP EGFL8 ENST00000333845 human ensembl 74_37 +1 known missense c.628 p.A210T 0.039 NULL pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 37 0 0 18 10 35.7143 HLA-DRA 0 genome.wustl.edu 37 6 32411064 32411064 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 32411064 32411064 T C SNP HLA-DRA ENST00000395388 human ensembl 74_37 +1 known missense c.431 p.V144A 0.991 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom 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 92 0 0 71 27 27.551 TAP2 0 genome.wustl.edu 37 6 32802938 32802938 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 32802938 32802938 C T SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.938 p.R313H 0.996 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_ABC_B3,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 35 0 0 30 17 36.1702 COL11A2 0 genome.wustl.edu 37 6 33144778 33144778 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 33144778 33144778 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known silent c.2061 p.D687 1.000 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 COL11A2 HGNC ENSG00000204248 12 0 0 10 9 47.3684 DUSP22 0 genome.wustl.edu 37 6 348155 348155 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 348155 348155 G A SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.316 p.V106I 0.987 pfam_Dual-sp_phosphatase_cat-dom,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 182 1 0.546448 152 32 17.3913 UHRF1BP1 0 genome.wustl.edu 37 6 34824039 34824039 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 34824039 34824039 C T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.1144 p.R382C 0.825 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 145 0 0 116 48 29.2683 UHRF1BP1 0 genome.wustl.edu 37 6 34825149 34825149 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 34825149 34825149 T C SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.1475 p.L492P 0.999 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 85 0 0 60 22 26.8293 MDGA1 0 genome.wustl.edu 37 6 37619917 37619917 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 37619917 37619917 G A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known silent c.1182 p.P394 0.013 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 43 0 0 37 13 26 ZFAND3 0 genome.wustl.edu 37 6 38120107 38120107 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 38120107 38120107 T C SNP ZFAND3 ENST00000287218 human ensembl 74_37 +1 known missense c.626 p.V209A 1.000 NULL pfam_Znf_AN1,pfam_Znf_A20,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND3 HGNC ENSG00000156639 83 0 0 51 17 25 DNAH8 0 genome.wustl.edu 37 6 38840746 38840746 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 38840746 38840746 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.6651 p.S2217 0.689 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 69 0 0 43 21 32.8125 UBR2 0 genome.wustl.edu 37 6 42633221 42633221 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 42633221 42633221 A G SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.3773 p.Q1258R 0.176 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 94 0 0 61 28 31.4607 GLTSCR1L 0 genome.wustl.edu 37 6 42796237 42796237 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 42796237 42796237 G A SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.166 p.D56N 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 47 0 0 43 19 30.6452 KLC4 0 genome.wustl.edu 37 6 43030725 43030725 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 43030725 43030725 G A SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.383 p.R128Q 1.000 pfam_Rabaptin_Rab5-bd_dom,prints_Kinesin_light pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 48 0 0 38 20 34.4828 CUL9 0 genome.wustl.edu 37 6 43152490 43152490 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 43152490 43152490 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.442 p.V148M 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 55 0 0 47 25 34.7222 TDRD6 0 genome.wustl.edu 37 6 46656522 46656522 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 46656522 46656522 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.657 p.S219 0.878 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 23 0 0 21 4 16 PTCHD4 0 genome.wustl.edu 37 6 47846191 47846191 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 47846191 47846191 G T SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.2389 p.L797M 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 59 0 0 67 28 29.4737 KIAA1586 0 genome.wustl.edu 37 6 56919147 56919147 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 56919147 56919147 G A SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.1850 p.R617H 0.011 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 52 0 0 51 21 29.1667 EXOC2 0 genome.wustl.edu 37 6 637806 637806 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 637806 637806 G A SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known nonsense c.13 p.R5* 0.968 superfamily_Ig_E-set pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 102 0 0 71 38 34.8624 EYS 0 genome.wustl.edu 37 6 66045023 66045023 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 66045023 66045023 C A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1616 p.C539F 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 72 0 0 41 28 40.5797 COL9A1 0 genome.wustl.edu 37 6 71011710 71011710 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 71011710 71011710 G A SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.82 p.R28C 0.974 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 11 0 0 14 10 41.6667 RREB1 0 genome.wustl.edu 37 6 7230050 7230050 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 7230050 7230050 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.1718 p.A573V 0.010 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 19 0 0 5 3 37.5 RIMS1 0 genome.wustl.edu 37 6 72678706 72678706 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 72678706 72678706 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.185 p.A62V 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 81 0 0 72 42 36.8421 KCNQ5 0 genome.wustl.edu 37 6 73902416 73902416 + Splice_Site SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 73902416 73902416 T C SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known splice_site c.1866+2 e13+2 1.000 - - - no_errors KCNQ5 HGNC ENSG00000185760 82 0 0 84 8 8.69565 COL12A1 0 genome.wustl.edu 37 6 75814988 75814988 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 75814988 75814988 A G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.8199 p.P2733 0.108 NULL 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 29 0 0 27 4 12.9032 BMP6 0 genome.wustl.edu 37 6 7862635 7862635 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 7862635 7862635 G A SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.1108 p.V370M 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 41 0 0 35 11 23.913 ANKRD6 0 genome.wustl.edu 37 6 90340559 90340559 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 90340559 90340559 G A SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known missense c.2020 p.A674T 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 ANKRD6 HGNC ENSG00000135299 50 0 0 33 12 26.6667 MDN1 0 genome.wustl.edu 37 6 90402442 90402442 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 90402442 90402442 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.10307 p.A3436V 0.940 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 58 0 0 46 16 25.8065 EPHA7 0 genome.wustl.edu 37 6 93967182 93967182 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 93967182 93967182 T C SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2170 p.R724G 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 34 0 0 37 14 27.451 KLHL32 0 genome.wustl.edu 37 6 97587132 97587132 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 97587132 97587132 C T SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known missense c.1837 p.P613S 1.000 NULL 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 KLHL32 HGNC ENSG00000186231 81 0 0 81 47 36.7188 MMS22L 0 genome.wustl.edu 37 6 97711260 97711260 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 97711260 97711260 A G SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.893 p.V298A 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 82 0 0 76 32 29.6296 NYAP1 0 genome.wustl.edu 37 7 100087129 100087129 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 100087129 100087129 C T SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known silent c.1785 p.T595 0.853 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 44 0 0 39 11 22 TFR2 0 genome.wustl.edu 37 7 100218519 100218519 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 100218519 100218519 C T SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known silent c.2367 p.A789 0.675 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 33 0 0 30 18 37.5 TFR2 0 genome.wustl.edu 37 7 100226903 100226903 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 100226903 100226903 G A SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known missense c.1363 p.R455W 0.377 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 64 0 0 47 15 24.1935 TRIP6 0 genome.wustl.edu 37 7 100468258 100468258 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 100468258 100468258 C T SNP TRIP6 ENST00000200457 human ensembl 74_37 +1 known missense c.892 p.R298C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 60 0 0 30 16 34.7826 PIK3CG 0 genome.wustl.edu 37 7 106508373 106508373 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 106508373 106508373 C T SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.367 p.R123C 0.674 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 22 0 0 23 9 28.125 PIK3CG 0 genome.wustl.edu 37 7 106523539 106523539 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 106523539 106523539 C A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known silent c.2691 p.G897 0.968 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom 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 176 0 0 138 82 37.2727 COG5 0 genome.wustl.edu 37 7 107198538 107198538 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 107198538 107198538 G A SNP COG5 ENST00000297135 human ensembl 74_37 -1 known silent c.210 p.N70 0.346 pfam_Cog5 pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 43 0 0 24 11 31.4286 DOCK4 0 genome.wustl.edu 37 7 111377033 111377033 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 111377033 111377033 T C SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.5245 p.N1749D 0.997 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 14 0 0 13 4 23.5294 FOXP2 0 genome.wustl.edu 37 7 114284763 114284763 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 114284763 114284763 C T SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.1088 p.A363V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 48 0 0 31 11 26.1905 ZNF800 0 genome.wustl.edu 37 7 127014061 127014061 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 127014061 127014061 T C SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known silent c.1329 p.T443 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 47 0 0 67 5 6.94444 LRRC4 0 genome.wustl.edu 37 7 127669841 127669841 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 127669841 127669841 G T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.853 p.L285I 1.000 pfam_Leu-rich_rpt,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 60 0 0 48 22 31.4286 SND1 0 genome.wustl.edu 37 7 127732057 127732057 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 127732057 127732057 C T SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.2680 p.R894C 1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 134 0 0 111 42 27.451 FLNC 0 genome.wustl.edu 37 7 128475506 128475506 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 128475506 128475506 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.479 p.T160M 1.000 superfamily_CH-domain,pfscan_CH-domain 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 106 0 0 60 38 38.7755 NRF1 0 genome.wustl.edu 37 7 129394908 129394908 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 129394908 129394908 G A SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known missense c.1456 p.A486T 1.000 pfam_Nrf1_activation-bd pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 69 0 0 48 25 34.2466 CPA5 0 genome.wustl.edu 37 7 129986353 129986353 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 129986353 129986353 G A SNP CPA5 ENST00000355388 human ensembl 74_37 +1 known silent c.27 p.T9 0.000 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 42 0 0 27 20 42.5532 PLXNA4 0 genome.wustl.edu 37 7 131864546 131864546 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 131864546 131864546 A G SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.3774 p.I1258 0.988 NULL 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 PLXNA4 HGNC ENSG00000221866 21 0 0 13 9 40.9091 WDR91 0 genome.wustl.edu 37 7 134871064 134871064 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 134871064 134871064 C T SNP WDR91 ENST00000354475 human ensembl 74_37 -1 known missense c.2083 p.G695S 0.998 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 25 0 0 12 8 40 NUP205 0 genome.wustl.edu 37 7 135277854 135277854 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 135277854 135277854 C T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.1744 p.R582C 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 123 0 0 105 38 26.5734 DGKI 0 genome.wustl.edu 37 7 137237203 137237203 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 137237203 137237203 C A SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.2059 p.A687S 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 141 0 0 114 57 33.3333 TMEM213 0 genome.wustl.edu 37 7 138522642 138522642 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 138522642 138522642 C T SNP TMEM213 ENST00000413208 human ensembl 74_37 +1 putative silent c.183 p.G61 0.000 NULL NULL - no_errors TMEM213 HGNC ENSG00000214128 24 0 0 10 4 28.5714 KIAA1549 0 genome.wustl.edu 37 7 138554434 138554434 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 138554434 138554434 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.4625 p.R1542H 0.996 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 19 0 0 18 7 28 KIAA1549 0 genome.wustl.edu 37 7 138602725 138602725 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 138602725 138602725 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.1647 p.T549 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 21 0 0 22 9 29.0323 MKRN1 0 genome.wustl.edu 37 7 140158906 140158906 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 140158906 140158906 G A SNP MKRN1 ENST00000255977 human ensembl 74_37 -1 known silent c.672 p.Y224 0.046 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN1 HGNC ENSG00000133606 129 0 0 109 56 33.9394 DENND2A 0 genome.wustl.edu 37 7 140273680 140273680 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 140273680 140273680 G T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known silent c.1374 p.P458 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 DENND2A HGNC ENSG00000146966 163 1 0.609756 142 62 30.3922 CLCN1 0 genome.wustl.edu 37 7 143039045 143039045 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 143039045 143039045 G A SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known missense c.1606 p.V536I 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 48 0 0 42 12 22.2222 CNTNAP2 0 genome.wustl.edu 37 7 147914604 147914604 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 147914604 147914604 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.3235 p.V1079I 0.955 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,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 67 0 0 52 25 32.4675 ZNF282 0 genome.wustl.edu 37 7 148921287 148921287 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 148921287 148921287 G A SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known missense c.1564 p.E522K 0.052 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 - no_errors ZNF282 HGNC ENSG00000170265 27 0 0 13 6 31.5789 ZNF212 0 genome.wustl.edu 37 7 148947336 148947336 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 148947336 148947336 C T SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known silent c.111 p.T37 0.376 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF212 HGNC ENSG00000170260 72 0 0 49 25 33.7838 ZNF212 0 genome.wustl.edu 37 7 148951367 148951367 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 148951367 148951367 C T SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known missense c.1349 p.T450M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF212 HGNC ENSG00000170260 87 0 0 51 21 29.1667 KRBA1 0 genome.wustl.edu 37 7 149420936 149420936 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 149420936 149420936 G A SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.884 p.R295Q 0.000 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 65 0 0 48 21 30.4348 SSPO 0 genome.wustl.edu 37 7 149522374 149522374 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 149522374 149522374 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SSPO HGNC ENSG00000197558 47 0 0 43 26 37.6812 CHPF2 0 genome.wustl.edu 37 7 150934480 150934480 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 150934480 150934480 C T SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known silent c.1032 p.T344 0.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 46 0 0 35 18 33.9623 CRYGN 0 genome.wustl.edu 37 7 151135154 151135154 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 151135154 151135154 G A SNP CRYGN ENST00000337323 human ensembl 74_37 -1 known silent c.198 p.H66 0.999 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGN HGNC ENSG00000127377 43 0 0 44 12 21.4286 GALNT11 0 genome.wustl.edu 37 7 151818747 151818747 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 151818747 151818747 G A SNP GALNT11 ENST00000320311 human ensembl 74_37 +1 known nonsense c.1812 p.W604* 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 GALNT11 HGNC ENSG00000178234 67 0 0 59 34 36.5591 FABP5P3 0 genome.wustl.edu 37 7 152139985 152139985 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 152139985 152139985 C T SNP FABP5P3 ENST00000477993 human ensembl 74_37 +1 known rna NULL NULL 0.098 - - - no_errors FABP5P3 HGNC ENSG00000241735 27 0 0 20 12 37.5 LOC100506302 0 genome.wustl.edu 37 7 155436217 155436217 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 155436217 155436217 T C SNP LOC100506302 ENST00000401694 human ensembl 74_37 -1 putative missense c.46 p.I16V 0.000 NULL NULL - no_errors AC009403.2 Clone_based_vega_gene ENSG00000216895 28 0 0 16 8 33.3333 MNX1 0 genome.wustl.edu 37 7 156799214 156799214 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 156799214 156799214 G A SNP MNX1 ENST00000252971 human ensembl 74_37 -1 known missense c.811 p.R271C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MNX1 HGNC ENSG00000130675 13 0 0 8 4 33.3333 TMEM184A 0 genome.wustl.edu 37 7 1587459 1587459 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 1587459 1587459 C T SNP TMEM184A ENST00000297477 human ensembl 74_37 -1 known missense c.931 p.V311M 0.997 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 11 0 0 16 2 11.1111 DNAH11 0 genome.wustl.edu 37 7 21747335 21747335 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 21747335 21747335 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known nonsense c.6586 p.R2196* 0.875 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 32 0 0 28 16 36.3636 IGF2BP3 0 genome.wustl.edu 37 7 23509592 23509592 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 23509592 23509592 G A SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known silent c.138 p.D46 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 34 0 0 25 16 39.0244 STK31 0 genome.wustl.edu 37 7 23811811 23811811 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 23811811 23811811 G A SNP STK31 ENST00000355870 human ensembl 74_37 +1 known missense c.1879 p.D627N 1.000 NULL pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 41 0 0 44 16 26.6667 EIF3B 0 genome.wustl.edu 37 7 2418871 2418871 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 2418871 2418871 C T SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known nonsense c.2335 p.R779* 0.454 pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 22 0 0 26 8 23.5294 C7orf41 0 genome.wustl.edu 37 7 30185810 30185810 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 30185810 30185810 C T SNP C7orf41 ENST00000324453 human ensembl 74_37 +1 known silent c.180 p.S60 0.999 NULL NULL - no_errors C7orf41 HGNC ENSG00000180354 63 0 0 35 12 25.5319 PDE1C 0 genome.wustl.edu 37 7 31890296 31890296 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 31890296 31890296 G A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.810 p.Y270 0.965 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 109 0 0 72 34 32.0755 GLI3 0 genome.wustl.edu 37 7 42005174 42005174 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 42005174 42005174 C A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3497 p.S1166I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 105 0 0 54 28 34.1463 GLI3 0 genome.wustl.edu 37 7 42012141 42012141 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 42012141 42012141 C A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.1898 p.G633V 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 55 0 0 30 18 37.5 AEBP1 0 genome.wustl.edu 37 7 44151800 44151800 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 44151800 44151800 T C SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.2097 p.F699 0.998 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 65 0 0 44 28 38.8889 ZMIZ2 0 genome.wustl.edu 37 7 44806205 44806205 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 44806205 44806205 C T SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known silent c.2598 p.G866 0.955 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 41 0 0 36 7 16.2791 MYO1G 0 genome.wustl.edu 37 7 45016545 45016545 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 45016545 45016545 C T SNP MYO1G ENST00000258787 human ensembl 74_37 -1 known missense c.221 p.R74Q 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 - no_errors MYO1G HGNC ENSG00000136286 52 0 0 28 18 39.1304 ABCA13 0 genome.wustl.edu 37 7 48411974 48411974 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 48411974 48411974 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.11013 p.F3671L 0.922 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 143 0 0 119 56 32 RNF216 0 genome.wustl.edu 37 7 5752364 5752364 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 5752364 5752364 T C SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.1964 p.Y655C 1.000 smart_Znf_C6HC smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 25 0 0 25 8 24.2424 USP42 0 genome.wustl.edu 37 7 6178819 6178819 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 6178819 6178819 G A SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.650 p.S217N 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 8 0 0 14 5 26.3158 CYTH3 0 genome.wustl.edu 37 7 6210230 6210230 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 6210230 6210230 G A SNP CYTH3 ENST00000350796 human ensembl 74_37 -1 known silent c.759 p.D253 0.979 superfamily_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 48 0 0 22 10 31.25 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 15 0 0 12 6 33.3333 GTF2IRD1P1 0 genome.wustl.edu 37 7 66304612 66304612 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 66304612 66304612 C T SNP GTF2IRD1P1 ENST00000457166 human ensembl 74_37 -1 known rna NULL NULL 0.468 - - - no_errors GTF2IRD1P1 HGNC ENSG00000230583 26 0 0 30 4 11.7647 AUTS2 0 genome.wustl.edu 37 7 70255840 70255840 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 70255840 70255840 C T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.3638 p.P1213L 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 33 0 0 22 4 15.3846 MLXIPL 0 genome.wustl.edu 37 7 73011554 73011554 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 73011554 73011554 C T SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.1561 p.A521T 0.143 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 9 0 0 5 3 37.5 GTF2I 0 genome.wustl.edu 37 7 74159243 74159243 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 74159243 74159243 G A SNP GTF2I ENST00000324896 human ensembl 74_37 +1 known missense c.1897 p.V633I 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 114 0 0 128 21 14.094 LOC541473 0 genome.wustl.edu 37 7 75023589 75023589 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 75023589 75023589 C T SNP LOC541473 ENST00000275590 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors AC006014.8 Clone_based_vega_gene ENSG00000146722 69 0 0 54 34 38.6364 POM121C 0 genome.wustl.edu 37 7 75066870 75066870 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 75066870 75066870 C T SNP POM121C ENST00000257665 human ensembl 74_37 -1 known missense c.1129 p.A377T 0.020 NULL NULL - no_errors POM121C HGNC ENSG00000135213 246 0 0 178 77 30.1961 SRCRB4D 0 genome.wustl.edu 37 7 76029799 76029799 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 76029799 76029799 G A SNP SRCRB4D ENST00000275560 human ensembl 74_37 -1 known silent c.279 p.N93 0.519 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 SRCRB4D HGNC ENSG00000146700 9 0 0 6 8 57.1429 PCLO 0 genome.wustl.edu 37 7 82390067 82390067 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 82390067 82390067 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.15176 p.S5059Y 0.999 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 24 0 0 19 16 45.7143 KIAA1324L 0 genome.wustl.edu 37 7 86522383 86522383 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 86522383 86522383 A G SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.2719 p.C907R 1.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 147 0 0 106 45 29.8013 SUN1 0 genome.wustl.edu 37 7 872217 872217 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 872217 872217 C T SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.230 p.T77M 1.000 NULL pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 20 0 0 10 11 52.381 FZD1 0 genome.wustl.edu 37 7 90894471 90894471 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 90894471 90894471 G T SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known silent c.276 p.P92 0.978 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 18 0 0 11 9 45 MTERF 0 genome.wustl.edu 37 7 91503750 91503750 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 91503750 91503750 C T SNP MTERF ENST00000351870 human ensembl 74_37 -1 known missense c.358 p.V120M 1.000 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 136 0 0 85 49 36.5672 COL1A2 0 genome.wustl.edu 37 7 94054966 94054966 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 94054966 94054966 C T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known silent c.2826 p.P942 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 48 0 0 38 13 25.4902 DLX6 0 genome.wustl.edu 37 7 96639132 96639132 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 96639132 96639132 C T SNP DLX6 ENST00000518156 human ensembl 74_37 +1 known missense c.655 p.R219C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 87 0 0 75 30 28.5714 ZNF655 0 genome.wustl.edu 37 7 99159544 99159544 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 99159544 99159544 G A SNP ZNF655 ENST00000320583 human ensembl 74_37 +1 known missense c.170 p.R57H 0.935 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF655 HGNC ENSG00000197343 19 0 0 13 7 35 ZSCAN21 0 genome.wustl.edu 37 7 99654966 99654966 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 99654966 99654966 G A SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known missense c.337 p.A113T 0.051 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 46 0 0 34 14 29.1667 RP1L1 0 genome.wustl.edu 37 8 10467571 10467571 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 10467571 10467571 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.4037 p.G1346E 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 59 0 0 120 9 6.97674 RIMS2 0 genome.wustl.edu 37 8 104897787 104897787 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 104897787 104897787 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.960 p.Y320 0.997 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 68 0 0 94 19 16.8142 RIMS2 0 genome.wustl.edu 37 8 104922390 104922390 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 104922390 104922390 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1653 p.H551Q 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 104 0 0 169 39 18.75 SOX7 0 genome.wustl.edu 37 8 10583476 10583476 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 10583476 10583476 G A SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known silent c.1095 p.D365 0.494 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 29 0 0 54 14 20.5882 OXR1 0 genome.wustl.edu 37 8 107691480 107691480 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 107691480 107691480 G A SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.266 p.R89Q 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 85 0 0 165 26 13.6126 XKR6 0 genome.wustl.edu 37 8 11058385 11058385 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 11058385 11058385 C T SNP XKR6 ENST00000416569 human ensembl 74_37 -1 known missense c.464 p.R155H 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 35 0 0 48 14 22.5806 MTMR9 0 genome.wustl.edu 37 8 11157593 11157593 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 11157593 11157593 A G SNP MTMR9 ENST00000221086 human ensembl 74_37 +1 known missense c.353 p.E118G 1.000 NULL pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 150 0 0 263 59 18.323 FAM167A 0 genome.wustl.edu 37 8 11301555 11301555 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 11301555 11301555 C T SNP FAM167A ENST00000284486 human ensembl 74_37 -1 known nonsense c.366 p.W122* 1.000 NULL pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 92 0 0 136 30 18.0723 CSMD3 0 genome.wustl.edu 37 8 113301668 113301668 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 113301668 113301668 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9074 p.R3025H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 79 0 0 98 17 14.7826 CSMD3 0 genome.wustl.edu 37 8 113314034 113314034 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 113314034 113314034 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8428 p.T2810S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 68 0 0 90 31 25.6198 GATA4 0 genome.wustl.edu 37 8 11615981 11615981 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 11615981 11615981 G A SNP GATA4 ENST00000335135 human ensembl 74_37 +1 known silent c.1326 p.A442 0.929 NULL pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA4 HGNC ENSG00000136574 43 0 0 102 23 18.4 TRPS1 0 genome.wustl.edu 37 8 116617110 116617110 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 116617110 116617110 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.1086 p.E362 0.991 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 63 0 0 110 17 13.3858 RAD21 0 genome.wustl.edu 37 8 117866524 117866524 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 117866524 117866524 G A SNP RAD21 ENST00000297338 human ensembl 74_37 -1 known missense c.1121 p.S374F 1.000 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 66 0 0 85 19 18.2692 AARD 0 genome.wustl.edu 37 8 117950593 117950593 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 117950593 117950593 C T SNP AARD ENST00000378279 human ensembl 74_37 +1 known silent c.111 p.F37 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 15 0 0 22 4 15.3846 ENPP2 0 genome.wustl.edu 37 8 120583061 120583061 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 120583061 120583061 G A SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known nonsense c.1957 p.R653* 1.000 NULL 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 64 0 0 78 13 14.2857 TAF2 0 genome.wustl.edu 37 8 120754889 120754889 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 120754889 120754889 C T SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known silent c.3222 p.S1074 0.920 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 35 0 0 63 9 12.5 ATAD2 0 genome.wustl.edu 37 8 124335285 124335285 + Nonsense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 124335285 124335285 T A SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known nonsense c.4024 p.K1342* 0.942 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 33 0 0 46 9 16.3636 ANXA13 0 genome.wustl.edu 37 8 124707927 124707927 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 124707927 124707927 C T SNP ANXA13 ENST00000262219 human ensembl 74_37 -1 known splice_site c.514+1 e6+1 0.998 - - - no_errors ANXA13 HGNC ENSG00000104537 140 0 0 231 46 16.6065 FER1L6 0 genome.wustl.edu 37 8 125131185 125131185 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 125131185 125131185 A T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.5390 p.N1797I 1.000 superfamily_ABC1_TM_dom 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 18 0 0 43 15 25.8621 KIAA0196 0 genome.wustl.edu 37 8 126079934 126079934 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 126079934 126079934 C T SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.1178 p.R393H 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 94 0 0 146 21 12.5749 ADCY8 0 genome.wustl.edu 37 8 131797706 131797706 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 131797706 131797706 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known nonsense c.3076 p.R1026* 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 40 0 0 80 17 17.5258 ADCY8 0 genome.wustl.edu 37 8 131848567 131848567 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 131848567 131848567 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.2631 p.Y877 0.819 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 65 0 0 94 27 22.314 EFR3A 0 genome.wustl.edu 37 8 133008660 133008660 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 133008660 133008660 T G SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.2073 p.D691E 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 15 0 0 41 5 10.8696 TG 0 genome.wustl.edu 37 8 133894824 133894824 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 133894824 133894824 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.856 p.A286T 0.981 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 99 0 0 143 8 5.29801 WISP1 0 genome.wustl.edu 37 8 134237661 134237661 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 134237661 134237661 C T SNP WISP1 ENST00000377862 human ensembl 74_37 +1 known missense c.98 p.T33I 0.053 NULL NULL - no_errors WISP1 HGNC ENSG00000104415 76 0 0 126 29 18.7097 COL22A1 0 genome.wustl.edu 37 8 139820047 139820047 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 139820047 139820047 C A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.1458 p.M486I 0.564 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 104 0 0 155 39 20.1031 COL22A1 0 genome.wustl.edu 37 8 139890011 139890011 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 139890011 139890011 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.640 p.R214W 0.985 smart_VWF_A 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 50 0 0 37 9 19.5652 PTK2 0 genome.wustl.edu 37 8 141753359 141753359 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 141753359 141753359 G A SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known nonsense c.1705 p.R569* 0.989 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_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 65 0 0 107 27 20.1493 DENND3 0 genome.wustl.edu 37 8 142176464 142176464 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 142176464 142176464 G A SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.1489 p.A497T 0.000 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 57 0 0 70 15 17.6471 SLC45A4 0 genome.wustl.edu 37 8 142238339 142238339 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 142238339 142238339 C T SNP SLC45A4 ENST00000024061 human ensembl 74_37 -1 known silent c.27 p.G9 0.003 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 102 0 0 158 58 26.8519 MROH5 0 genome.wustl.edu 37 8 142517187 142517187 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 142517187 142517187 G A SNP MROH5 ENST00000521053 human ensembl 74_37 -1 known silent c.63 p.A21 0.183 NULL NULL - no_errors MROH5 HGNC ENSG00000226807 51 0 0 60 6 9.09091 GPIHBP1 0 genome.wustl.edu 37 8 144295734 144295734 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 144295734 144295734 C A SNP GPIHBP1 ENST00000330824 human ensembl 74_37 +1 known missense c.90 p.D30E 0.000 NULL pfam_LY6_UPAR - no_errors GPIHBP1 HGNC ENSG00000182851 9 0 0 22 9 29.0323 ZNF696 0 genome.wustl.edu 37 8 144375210 144375210 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 144375210 144375210 C T SNP ZNF696 ENST00000330143 human ensembl 74_37 +1 known silent c.39 p.S13 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF696 HGNC ENSG00000185730 32 0 0 45 8 15.0943 EPPK1 0 genome.wustl.edu 37 8 144941617 144941617 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 144941617 144941617 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.5805 p.A1935 0.039 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 30 0 0 27 12 30.7692 PLEC 0 genome.wustl.edu 37 8 144998442 144998442 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 144998442 144998442 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.6066 p.A2022 0.885 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 14 0 0 11 8 42.1053 SLC52A2 0 genome.wustl.edu 37 8 145583577 145583577 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 145583577 145583577 G A SNP SLC52A2 ENST00000329994 human ensembl 74_37 +1 known missense c.425 p.R142H 0.370 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 122 0 0 168 45 21.1268 CPSF1 0 genome.wustl.edu 37 8 145621823 145621823 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 145621823 145621823 C A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.2816 p.G939V 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 65 0 0 94 5 5.05051 ZNF34 0 genome.wustl.edu 37 8 145999196 145999196 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 145999196 145999196 G A SNP ZNF34 ENST00000343459 human ensembl 74_37 -1 known nonsense c.1138 p.R380* 0.002 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 ZNF34 HGNC ENSG00000196378 53 0 0 82 21 20.3883 ZNF252P 0 genome.wustl.edu 37 8 146225011 146225011 + RNA SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 146225011 146225011 G T SNP ZNF252P ENST00000426361 human ensembl 74_37 -1 known rna NULL NULL 0.552 - - - no_errors ZNF252P HGNC ENSG00000196922 10 0 0 16 9 36 ZNF596 0 genome.wustl.edu 37 8 192901 192901 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 192901 192901 C T SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known silent c.27 p.F9 0.000 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 ZNF596 HGNC ENSG00000172748 59 0 0 89 15 14.4231 DMTN 0 genome.wustl.edu 37 8 21929867 21929867 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 21929867 21929867 G A SNP DMTN ENST00000265800 human ensembl 74_37 +1 known missense c.635 p.R212Q 0.860 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 14 0 0 26 6 18.75 HR 0 genome.wustl.edu 37 8 21985180 21985180 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 21985180 21985180 G A SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.775 p.R259W 0.148 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 120 0 0 151 49 24.5 NKX3-1 0 genome.wustl.edu 37 8 23538896 23538896 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 23538896 23538896 T C SNP NKX3-1 ENST00000380871 human ensembl 74_37 -1 known silent c.543 p.R181 0.659 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-1 HGNC ENSG00000167034 93 0 0 142 31 17.9191 ADAMDEC1 0 genome.wustl.edu 37 8 24256965 24256965 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 24256965 24256965 C A SNP ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known missense c.989 p.P330Q 0.148 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 94 0 0 138 23 14.2857 NEFM 0 genome.wustl.edu 37 8 24771893 24771893 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 24771893 24771893 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.587 p.R196H 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 26 0 0 34 8 19.0476 DOCK5 0 genome.wustl.edu 37 8 25246735 25246735 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 25246735 25246735 G A SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known silent c.4260 p.S1420 0.118 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 83 0 0 124 31 20 PNMA2 0 genome.wustl.edu 37 8 26365705 26365705 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 26365705 26365705 C T SNP PNMA2 ENST00000522362 human ensembl 74_37 -1 known silent c.567 p.T189 0.593 NULL pfam_Retrotrans_gag_dom - no_errors PNMA2 HGNC ENSG00000240694 56 0 0 104 13 11.1111 PTK2B 0 genome.wustl.edu 37 8 27297938 27297938 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 27297938 27297938 C T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known silent c.2019 p.T673 0.001 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_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 51 0 0 75 6 7.40741 EXTL3 0 genome.wustl.edu 37 8 28574843 28574843 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 28574843 28574843 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.1267 p.E423K 0.998 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 60 0 0 73 16 17.9775 DUSP4 0 genome.wustl.edu 37 8 29195944 29195944 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 29195944 29195944 G A SNP DUSP4 ENST00000240100 human ensembl 74_37 -1 known silent c.654 p.D218 0.994 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 46 0 0 62 11 15.0685 WRN 0 genome.wustl.edu 37 8 30999110 30999110 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 30999110 30999110 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.3132 p.T1044 0.000 pfam_RQC_domain,smart_RQC_domain 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 73 0 0 113 20 15.0376 GPR124 0 genome.wustl.edu 37 8 37689008 37689008 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 37689008 37689008 C T SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known nonsense c.1000 p.Q334* 1.000 smart_Ig_sub,pfscan_GPCR_2_extracellular_dom,pfscan_Ig-like_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 44 0 0 64 10 13.5135 BRF2 0 genome.wustl.edu 37 8 37702376 37702376 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 37702376 37702376 C T SNP BRF2 ENST00000220659 human ensembl 74_37 -1 known missense c.892 p.G298S 0.759 NULL pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 51 0 0 83 19 18.6275 BAG4 0 genome.wustl.edu 37 8 38066655 38066655 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 38066655 38066655 G A SNP BAG4 ENST00000287322 human ensembl 74_37 +1 known missense c.758 p.G253D 0.341 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 27 0 0 54 7 11.4754 HTRA4 0 genome.wustl.edu 37 8 38835575 38835575 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 38835575 38835575 C T SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known missense c.875 p.A292V 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 57 0 0 72 27 27.2727 FBXO25 0 genome.wustl.edu 37 8 400034 400034 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 400034 400034 C T SNP FBXO25 ENST00000276326 human ensembl 74_37 +1 known silent c.426 p.G142 0.997 NULL superfamily_F-box_dom - no_errors FBXO25 HGNC ENSG00000147364 114 0 0 187 43 18.6957 IKBKB 0 genome.wustl.edu 37 8 42176093 42176093 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 42176093 42176093 G A SNP IKBKB ENST00000520810 human ensembl 74_37 +1 known missense c.1264 p.A422T 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 58 0 0 103 24 18.8976 HOOK3 0 genome.wustl.edu 37 8 42828458 42828458 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 42828458 42828458 C T SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known silent c.1149 p.S383 0.973 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 42 0 0 85 23 21.2963 MCM4 0 genome.wustl.edu 37 8 48887498 48887498 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 48887498 48887498 G A SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.2341 p.V781M 1.000 superfamily_P-loop_NTPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 81 0 0 125 22 14.966 PXDNL 0 genome.wustl.edu 37 8 52321164 52321164 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 52321164 52321164 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.3020 p.A1007V 0.840 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 18 0 0 22 8 26.6667 SOX17 0 genome.wustl.edu 37 8 55370898 55370898 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 55370898 55370898 G A SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.200 p.R67H 0.999 superfamily_HMG_box_dom,smart_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 34 0 0 35 8 18.6047 XKR4 0 genome.wustl.edu 37 8 56015724 56015724 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 56015724 56015724 G A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.676 p.A226T 0.811 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 39 0 0 40 12 23.0769 YTHDF3 0 genome.wustl.edu 37 8 64122306 64122306 + RNA SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 64122306 64122306 T C SNP YTHDF3 ENST00000517303 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 15 0 0 21 5 19.2308 PDE7A 0 genome.wustl.edu 37 8 66639133 66639133 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 66639133 66639133 G T SNP PDE7A ENST00000401827 human ensembl 74_37 -1 known missense c.897 p.F299L 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 106 0 0 171 45 20.8333 CSPP1 0 genome.wustl.edu 37 8 67998286 67998286 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 67998286 67998286 C T SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.352 p.R118W 0.991 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 91 0 0 150 31 17.1271 PREX2 0 genome.wustl.edu 37 8 68989660 68989660 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 68989660 68989660 T A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1598 p.M533K 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 79 0 0 120 26 17.8082 PREX2 0 genome.wustl.edu 37 8 69017427 69017427 + RNA SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 69017427 69017427 C T SNP PREX2 ENST00000529398 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PREX2 HGNC ENSG00000046889 116 0 0 178 40 18.3486 PREX2 0 genome.wustl.edu 37 8 69046300 69046300 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 69046300 69046300 A G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3773 p.E1258G 1.000 NULL 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 51 0 0 73 20 21.5054 PREX2 0 genome.wustl.edu 37 8 69046345 69046345 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 69046345 69046345 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3818 p.A1273V 1.000 NULL 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 62 0 0 92 21 18.5841 C8orf34 0 genome.wustl.edu 37 8 69351816 69351816 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 69351816 69351816 A G SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.410 p.N137S 0.253 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 67 0 0 80 35 30.4348 SULF1 0 genome.wustl.edu 37 8 70501233 70501233 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 70501233 70501233 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known silent c.591 p.N197 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 60 0 0 89 19 17.5926 SULF1 0 genome.wustl.edu 37 8 70517125 70517125 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 70517125 70517125 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known silent c.1335 p.C445 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 71 0 0 115 18 13.5338 SULF1 0 genome.wustl.edu 37 8 70536319 70536319 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 70536319 70536319 A G SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known silent c.1737 p.E579 0.695 pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 45 0 0 63 6 8.69565 EYA1 0 genome.wustl.edu 37 8 72229848 72229848 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 72229848 72229848 G A SNP EYA1 ENST00000465115 human ensembl 74_37 -1 known missense c.413 p.A138V 1.000 NULL NULL - no_errors EYA1 HGNC ENSG00000104313 177 0 0 214 51 19.2453 STAU2 0 genome.wustl.edu 37 8 74464497 74464497 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 74464497 74464497 C T SNP STAU2 ENST00000524300 human ensembl 74_37 -1 known missense c.1280 p.R427H 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 58 0 0 85 19 18.2692 ZNF704 0 genome.wustl.edu 37 8 81555314 81555314 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 81555314 81555314 C T SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known silent c.1083 p.A361 0.000 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 40 0 0 71 6 7.79221 SGK223 0 genome.wustl.edu 37 8 8233918 8233918 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 8233918 8233918 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.2001 p.T667 0.244 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 56 0 0 115 20 14.8148 ATP6V0D2 0 genome.wustl.edu 37 8 87111213 87111213 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 87111213 87111213 C T SNP ATP6V0D2 ENST00000285393 human ensembl 74_37 +1 known silent c.6 p.L2 0.000 pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 75 0 0 113 29 20.4225 MFHAS1 0 genome.wustl.edu 37 8 8747883 8747883 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 8747883 8747883 C T SNP MFHAS1 ENST00000276282 human ensembl 74_37 -1 known missense c.2686 p.A896T 1.000 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 65 0 0 105 30 22.2222 DCAF4L2 0 genome.wustl.edu 37 8 88885164 88885164 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 88885164 88885164 C T SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.1036 p.G346S 0.693 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 - no_errors DCAF4L2 HGNC ENSG00000176566 44 0 0 68 14 17.0732 RIPK2 0 genome.wustl.edu 37 8 90796355 90796355 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 90796355 90796355 T C SNP RIPK2 ENST00000220751 human ensembl 74_37 +1 known silent c.1017 p.H339 0.156 pirsf_Rcpt-int_Ser/Thr_kinase-2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom - no_errors RIPK2 HGNC ENSG00000104312 29 0 0 54 14 20.5882 KIAA1429 0 genome.wustl.edu 37 8 95538496 95538496 + Missense_Mutation SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 95538496 95538496 A T SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.1976 p.I659N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 80 0 0 112 28 20 UQCRB 0 genome.wustl.edu 37 8 97243341 97243341 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 97243341 97243341 G A SNP UQCRB ENST00000287022 human ensembl 74_37 -1 known missense c.278 p.P93L 1.000 pfam_QCR7,superfamily_QCR7 pfam_QCR7,superfamily_QCR7 - no_errors UQCRB HGNC ENSG00000156467 94 0 0 170 42 19.8113 GABBR2 0 genome.wustl.edu 37 9 101304194 101304194 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 101304194 101304194 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known silent c.591 p.R197 0.816 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 56 0 0 74 19 20.4301 ANKS6 0 genome.wustl.edu 37 9 101536250 101536250 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 101536250 101536250 G A SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.1730 p.T577M 0.390 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 46 0 0 45 16 26.2295 COL15A1 0 genome.wustl.edu 37 9 101832036 101832036 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 101832036 101832036 G A SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known silent c.4035 p.A1345 0.000 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 104 0 0 125 39 23.7805 INVS 0 genome.wustl.edu 37 9 103035177 103035177 + Nonsense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 103035177 103035177 G T SNP INVS ENST00000262457 human ensembl 74_37 +1 known nonsense c.1603 p.E535* 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 218 0 0 248 85 25.5255 SMC2 0 genome.wustl.edu 37 9 106876290 106876290 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 106876290 106876290 G A SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.1460 p.R487H 0.996 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 147 0 0 212 61 22.3443 KLF4 0 genome.wustl.edu 37 9 110249320 110249320 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 110249320 110249320 C T SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.1253 p.R418Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 174 0 0 202 62 23.4848 EPB41L4B 0 genome.wustl.edu 37 9 112015826 112015826 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 112015826 112015826 G A SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.1174 p.R392W 0.952 pfam_FERM-adjacent 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 60 0 0 76 21 21.6495 PALM2-AKAP2 0 genome.wustl.edu 37 9 112687354 112687354 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 112687354 112687354 C T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.386 p.T129M 0.940 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 62 0 0 93 32 25.6 RGS3 0 genome.wustl.edu 37 9 116359161 116359161 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 116359161 116359161 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known silent c.3525 p.S1175 0.794 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 81 0 0 93 27 22.5 TNFSF8 0 genome.wustl.edu 37 9 117692480 117692480 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 117692480 117692480 C A SNP TNFSF8 ENST00000223795 human ensembl 74_37 -1 known missense c.104 p.S35I 0.814 pirsf_TNF_CD30_ligand_type pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom - no_errors TNFSF8 HGNC ENSG00000106952 60 0 0 76 27 26.2136 TNC 0 genome.wustl.edu 37 9 117853061 117853061 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 117853061 117853061 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.237 p.P79 0.000 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 TNC HGNC ENSG00000041982 155 0 0 164 58 26.1261 ASTN2 0 genome.wustl.edu 37 9 119737508 119737508 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 119737508 119737508 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1868 p.T623M 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 66 0 0 88 5 5.37634 ASTN2 0 genome.wustl.edu 37 9 120053685 120053685 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 120053685 120053685 C G SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.550 p.A184P 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 61 0 0 42 16 27.5862 DENND1A 0 genome.wustl.edu 37 9 126146185 126146185 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 126146185 126146185 G A SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known missense c.1618 p.P540S 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 DENND1A HGNC ENSG00000119522 63 0 0 66 13 16.4557 OLFML2A 0 genome.wustl.edu 37 9 127561749 127561749 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 127561749 127561749 G A SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known silent c.648 p.T216 0.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 12 0 0 9 6 40 GOLGA1 0 genome.wustl.edu 37 9 127652731 127652731 + Silent SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 127652731 127652731 C A SNP GOLGA1 ENST00000373555 human ensembl 74_37 -1 known silent c.1434 p.V478 0.994 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 75 0 0 59 29 32.9545 SCAI 0 genome.wustl.edu 37 9 127818218 127818218 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 127818218 127818218 C A SNP SCAI ENST00000373549 human ensembl 74_37 -1 known missense c.236 p.R79M 1.000 pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 43 0 0 56 22 28.2051 RABEPK 0 genome.wustl.edu 37 9 127982827 127982827 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 127982827 127982827 C T SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known missense c.374 p.T125M 0.021 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 54 0 0 51 21 29.1667 HSPA5 0 genome.wustl.edu 37 9 127998919 127998919 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 127998919 127998919 G A SNP HSPA5 ENST00000324460 human ensembl 74_37 -1 known silent c.1917 p.G639 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 58 0 0 69 22 24.1758 ZBTB43 0 genome.wustl.edu 37 9 129595780 129595780 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 129595780 129595780 A G SNP ZBTB43 ENST00000373457 human ensembl 74_37 +1 known missense c.992 p.D331G 0.912 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 ZBTB43 HGNC ENSG00000169155 79 0 0 85 33 27.9661 ANGPTL2 0 genome.wustl.edu 37 9 129870416 129870416 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 129870416 129870416 G A SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known nonsense c.595 p.Q199* 0.983 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 32 0 0 37 9 19.5652 RPL12 0 genome.wustl.edu 37 9 130210644 130210644 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 130210644 130210644 C T SNP RPL12 ENST00000361436 human ensembl 74_37 -1 known silent c.351 p.R117 0.924 pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11 pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11 - no_errors RPL12 HGNC ENSG00000197958 188 0 0 224 60 21.1268 SH2D3C 0 genome.wustl.edu 37 9 130507045 130507045 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 130507045 130507045 G A SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known missense c.1598 p.A533V 0.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 189 0 0 264 14 5.03597 LRRC8A 0 genome.wustl.edu 37 9 131670129 131670129 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 131670129 131670129 C T SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.686 p.T229M 0.999 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 40 0 0 29 20 40.8163 NUP188 0 genome.wustl.edu 37 9 131755602 131755602 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 131755602 131755602 A G SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.2767 p.T923A 1.000 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 76 0 0 94 8 7.84314 NTNG2 0 genome.wustl.edu 37 9 135073517 135073517 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 135073517 135073517 G A SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known silent c.378 p.S126 0.999 pfam_Laminin_N,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 30 0 0 32 17 34.6939 SARDH 0 genome.wustl.edu 37 9 136536721 136536721 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 136536721 136536721 C T SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.2262 p.A754 0.014 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 11 0 0 15 3 16.6667 VAV2 0 genome.wustl.edu 37 9 136660824 136660824 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 136660824 136660824 C A SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.1067 p.R356M 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 79 0 0 66 29 30.5263 COL5A1 0 genome.wustl.edu 37 9 137674515 137674515 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 137674515 137674515 T C SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.2433 p.G811 1.000 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 125 0 0 166 10 5.68182 FCN1 0 genome.wustl.edu 37 9 137803098 137803098 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 137803098 137803098 C T SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known missense c.614 p.R205H 0.944 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN1 HGNC ENSG00000085265 180 0 0 212 69 24.5552 LHX3 0 genome.wustl.edu 37 9 139092502 139092502 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 139092502 139092502 G A SNP LHX3 ENST00000371746 human ensembl 74_37 -1 known silent c.192 p.S64 0.999 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 41 0 0 40 7 14.8936 PMPCA 0 genome.wustl.edu 37 9 139310805 139310805 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 139310805 139310805 C T SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known missense c.595 p.P199S 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 56 0 0 74 20 21.2766 INPP5E 0 genome.wustl.edu 37 9 139328514 139328514 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 139328514 139328514 C T SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known missense c.1009 p.G337R 0.937 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 13 0 0 15 4 21.0526 LCN10 0 genome.wustl.edu 37 9 139635288 139635288 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 139635288 139635288 G A SNP LCN10 ENST00000497771 human ensembl 74_37 -1 known missense c.475 p.H159Y 0.956 superfamily_Calycin-like superfamily_Calycin-like - no_errors LCN10 HGNC ENSG00000187922 22 0 0 47 9 16.0714 ANAPC2 0 genome.wustl.edu 37 9 140079368 140079368 + Nonsense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 140079368 140079368 G A SNP ANAPC2 ENST00000323927 human ensembl 74_37 -1 known nonsense c.1045 p.R349* 1.000 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 17 0 0 28 7 20 ENTPD8 0 genome.wustl.edu 37 9 140331728 140331728 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 140331728 140331728 G A SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known missense c.278 p.A93V 0.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 44 0 0 62 14 18.4211 NSMF 0 genome.wustl.edu 37 9 140347017 140347017 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 140347017 140347017 C T SNP NSMF ENST00000371475 human ensembl 74_37 -1 known missense c.1153 p.E385K 1.000 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 44 0 0 46 15 24.5902 PNPLA7 0 genome.wustl.edu 37 9 140392668 140392668 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 140392668 140392668 A G SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.1787 p.L596P 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 54 0 0 59 16 21.3333 EHMT1 0 genome.wustl.edu 37 9 140676805 140676805 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 140676805 140676805 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.2338 p.A780T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 24 0 0 16 6 27.2727 CACNA1B 0 genome.wustl.edu 37 9 140772539 140772539 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 140772539 140772539 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.154 p.R52C 1.000 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 12 0 0 18 5 21.7391 SMARCA2 0 genome.wustl.edu 37 9 2054701 2054701 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 2054701 2054701 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.1151 p.R384Q 1.000 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 71 0 0 91 27 22.8814 C9orf66 0 genome.wustl.edu 37 9 214857 214857 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 214857 214857 C T SNP C9orf66 ENST00000382387 human ensembl 74_37 -1 known silent c.540 p.A180 0.003 NULL NULL - no_errors C9orf66 HGNC ENSG00000183784 18 0 0 27 7 20.5882 TEK 0 genome.wustl.edu 37 9 27206739 27206739 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 27206739 27206739 C T SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.2524 p.R842C 0.957 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_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 41 0 0 43 19 30.6452 KIAA1161 0 genome.wustl.edu 37 9 34371530 34371530 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 34371530 34371530 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.1310 p.P437L 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 10 0 0 11 5 31.25 FAM221B 0 genome.wustl.edu 37 9 35825359 35825359 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 35825359 35825359 G A SNP FAM221B ENST00000423537 human ensembl 74_37 -1 known missense c.610 p.R204C 0.001 NULL NULL - no_errors FAM221B HGNC ENSG00000204930 68 0 0 93 32 25.6 CCIN 0 genome.wustl.edu 37 9 36171031 36171031 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 36171031 36171031 G A SNP CCIN ENST00000335119 human ensembl 74_37 +1 known missense c.1532 p.C511Y 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 76 0 0 92 29 23.9669 ZCCHC7 0 genome.wustl.edu 37 9 37126308 37126308 + Splice_Site SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 37126308 37126308 G T SNP ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.998 - - - no_errors ZCCHC7 HGNC ENSG00000147905 104 0 0 133 27 16.875 FRMPD1 0 genome.wustl.edu 37 9 37745690 37745690 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 37745690 37745690 G A SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.3661 p.V1221I 0.001 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 105 0 0 116 26 18.3099 CNTNAP3B 0 genome.wustl.edu 37 9 43822677 43822677 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 43822677 43822677 G A SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.1231 p.E411K 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 34 0 0 60 6 9.09091 LOC100996870 0 genome.wustl.edu 37 9 66459863 66459863 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 66459863 66459863 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.135 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 33 0 0 42 5 10.6383 LOC100996870 0 genome.wustl.edu 37 9 66469045 66469045 + RNA SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 66469045 66469045 A G SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 11 0 0 12 3 20 PGM5 0 genome.wustl.edu 37 9 70993121 70993121 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 70993121 70993121 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known nonsense c.268 p.R90* 0.949 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 66 0 0 145 9 5.84416 PGM5 0 genome.wustl.edu 37 9 70993153 70993153 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 70993153 70993153 G A SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known silent c.300 p.S100 0.985 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 49 0 0 104 7 6.30631 C9orf41 0 genome.wustl.edu 37 9 77598694 77598694 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 77598694 77598694 T C SNP C9orf41 ENST00000376834 human ensembl 74_37 -1 known missense c.1219 p.K407E 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 42 0 0 59 14 19.1781 PCSK5 0 genome.wustl.edu 37 9 78710821 78710821 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 78710821 78710821 G A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.910 p.G304S 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_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 86 0 0 83 26 23.8532 PCSK5 0 genome.wustl.edu 37 9 78973724 78973724 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 78973724 78973724 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known silent c.5469 p.I1823 0.104 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 190 0 0 260 84 24.4186 SPATA31D1 0 genome.wustl.edu 37 9 84609582 84609582 + Silent SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 84609582 84609582 T G SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.4197 p.T1399 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 30 0 0 46 14 23.3333 AGTPBP1 0 genome.wustl.edu 37 9 88248234 88248234 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 88248234 88248234 C T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.1394 p.R465H 0.007 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 78 0 0 102 39 27.6596 SHC3 0 genome.wustl.edu 37 9 91680487 91680487 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 91680487 91680487 A G SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known silent c.792 p.T264 0.992 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,prints_PID_Shc-like 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 218 0 0 282 78 21.6667 SYK 0 genome.wustl.edu 37 9 93606314 93606314 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 93606314 93606314 G A SNP SYK ENST00000375746 human ensembl 74_37 +1 known missense c.134 p.R45H 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 20 0 0 17 3 15 AUH 0 genome.wustl.edu 37 9 93983200 93983200 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 93983200 93983200 C T SNP AUH ENST00000375731 human ensembl 74_37 -1 known missense c.730 p.D244N 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors AUH HGNC ENSG00000148090 72 0 0 89 9 9.18367 ROR2 0 genome.wustl.edu 37 9 94495598 94495598 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 94495598 94495598 G A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.743 p.P248L 0.989 pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 13 0 0 19 8 29.6296 PHF2 0 genome.wustl.edu 37 9 96428129 96428129 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 96428129 96428129 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.2099 p.P700L 0.751 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 121 0 0 146 41 21.9251 ZNF169 0 genome.wustl.edu 37 9 97062823 97062823 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 97062823 97062823 G A SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.983 p.R328H 0.001 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 91 0 0 153 17 10 HIATL1 0 genome.wustl.edu 37 9 97203311 97203311 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 97203311 97203311 C T SNP HIATL1 ENST00000375344 human ensembl 74_37 +1 known missense c.440 p.T147M 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIATL1 HGNC ENSG00000148110 60 0 0 61 20 24.6914 FBP1 0 genome.wustl.edu 37 9 97382707 97382707 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 97382707 97382707 G A SNP FBP1 ENST00000375326 human ensembl 74_37 -1 known silent c.237 p.N79 0.971 pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP1 HGNC ENSG00000165140 57 0 0 63 16 20.2532 ZNF510 0 genome.wustl.edu 37 9 99521928 99521928 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 99521928 99521928 C T SNP ZNF510 ENST00000223428 human ensembl 74_37 -1 known missense c.1184 p.R395Q 0.971 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 ZNF510 HGNC ENSG00000081386 104 0 0 131 47 26.4045 MT-RNR2 0 genome.wustl.edu 37 MT 2449 2449 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc MT 2449 2449 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 763 0 0 613 435 41.5076 MT-ATP6 0 genome.wustl.edu 37 MT 9090 9090 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc MT 9090 9090 T C SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known silent c.564 p.S188 NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 914 1 0.10929 1093 416 27.5679 XKRX 0 genome.wustl.edu 37 X 100169452 100169452 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 100169452 100169452 G A SNP XKRX ENST00000328526 human ensembl 74_37 -1 known missense c.1264 p.R422C 1.000 NULL pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 194 0 0 163 52 24.186 CENPI 0 genome.wustl.edu 37 X 100387216 100387216 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 100387216 100387216 G A SNP CENPI ENST00000372927 human ensembl 74_37 +1 known missense c.1325 p.S442N 1.000 pfam_CENP-I pfam_CENP-I - no_errors CENPI HGNC ENSG00000102384 169 0 0 151 72 32.287 HNRNPH2 0 genome.wustl.edu 37 X 100667790 100667790 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 100667790 100667790 T G SNP HNRNPH2 ENST00000316594 human ensembl 74_37 +1 known missense c.814 p.S272A 1.000 pfam_Znf_CHHC pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC ENSG00000126945 63 0 0 72 11 13.253 NXF5 0 genome.wustl.edu 37 X 101095488 101095488 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 101095488 101095488 G A SNP NXF5 ENST00000263032 human ensembl 74_37 -1 known silent c.681 p.D227 0.999 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 70 0 0 56 29 34.1176 ZMAT1 0 genome.wustl.edu 37 X 101138866 101138866 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 101138866 101138866 G A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known silent c.1533 p.Y511 0.949 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 60 0 0 38 15 28.3019 FAM199X 0 genome.wustl.edu 37 X 103434329 103434329 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 103434329 103434329 G A SNP FAM199X ENST00000493442 human ensembl 74_37 +1 known missense c.1037 p.R346H 1.000 NULL NULL - no_errors FAM199X HGNC ENSG00000123575 112 0 0 112 62 35.6322 NRK 0 genome.wustl.edu 37 X 105153047 105153047 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 105153047 105153047 C T SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.1417 p.R473W 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 53 0 0 32 14 30.4348 CXorf57 0 genome.wustl.edu 37 X 105865880 105865880 + Splice_Site SNP G G C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 105865880 105865880 G C SNP CXorf57 ENST00000372548 human ensembl 74_37 +1 known splice_site c.644-1 e2-1 1.000 - - - no_errors CXorf57 HGNC ENSG00000147231 53 0 0 42 19 31.1475 FRMPD3 0 genome.wustl.edu 37 X 106844964 106844964 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 106844964 106844964 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.3794 p.T1265I 1.000 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 72 0 0 60 26 30.2326 IRS4 0 genome.wustl.edu 37 X 107978724 107978724 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 107978724 107978724 C T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.851 p.R284H 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 136 0 0 80 47 37.0079 CHRDL1 0 genome.wustl.edu 37 X 109964646 109964646 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 109964646 109964646 C T SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known silent c.414 p.R138 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 332 1 0.3003 318 63 16.5354 ALG13 0 genome.wustl.edu 37 X 110954936 110954936 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 110954936 110954936 C T SNP ALG13 ENST00000251943 human ensembl 74_37 +1 known missense c.556 p.R186W 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 45 0 0 25 17 40.4762 TRPC5 0 genome.wustl.edu 37 X 111090440 111090440 + Silent SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 111090440 111090440 T C SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known silent c.1602 p.G534 1.000 pfam_Ion_trans_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 153 0 0 137 57 29.3814 HTR2C 0 genome.wustl.edu 37 X 113965896 113965896 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 113965896 113965896 G T SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.229 p.A77S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 102 0 0 74 42 36.2069 LRCH2 0 genome.wustl.edu 37 X 114419019 114419019 + Silent SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 114419019 114419019 T A SNP LRCH2 ENST00000317135 human ensembl 74_37 -1 known silent c.576 p.V192 0.939 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 19 0 0 27 5 15.625 LRCH2 0 genome.wustl.edu 37 X 114422934 114422934 + Splice_Site SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 114422934 114422934 C T SNP LRCH2 ENST00000317135 human ensembl 74_37 -1 known splice_site c.350-1 e2-1 1.000 - - - no_errors LRCH2 HGNC ENSG00000130224 20 0 0 14 6 30 TMEM255A 0 genome.wustl.edu 37 X 119419025 119419025 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 119419025 119419025 G A SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known missense c.541 p.R181W 1.000 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 168 0 0 149 48 24.3655 CT47B1 0 genome.wustl.edu 37 X 120009111 120009111 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 120009111 120009111 G A SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known silent c.414 p.N138 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 107 0 0 74 27 26.7327 FRMPD4 0 genome.wustl.edu 37 X 12722594 12722594 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 12722594 12722594 C T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.1187 p.P396L 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 118 0 0 110 40 26.6667 SMARCA1 0 genome.wustl.edu 37 X 128645816 128645816 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 128645816 128645816 G A SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.775 p.R259C 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 173 0 0 202 24 10.6195 SASH3 0 genome.wustl.edu 37 X 128924995 128924995 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 128924995 128924995 C T SNP SASH3 ENST00000356892 human ensembl 74_37 +1 known missense c.380 p.A127V 0.969 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC ENSG00000122122 73 0 0 59 39 39.7959 TLR8 0 genome.wustl.edu 37 X 12939203 12939203 + Missense_Mutation SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 12939203 12939203 A G SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.2044 p.T682A 0.366 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 57 0 0 68 35 33.9806 ARHGAP36 0 genome.wustl.edu 37 X 130222706 130222706 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 130222706 130222706 C T SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known missense c.1591 p.R531C 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 48 0 0 20 11 35.4839 GPC4 0 genome.wustl.edu 37 X 132445391 132445391 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 132445391 132445391 G A SNP GPC4 ENST00000370828 human ensembl 74_37 -1 known missense c.772 p.R258W 0.875 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 134 0 0 101 51 33.5526 MIR542 0 genome.wustl.edu 37 X 133675434 133675434 + RNA SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 133675434 133675434 G A SNP MIR542 ENST00000385050 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR542 HGNC ENSG00000207784 121 0 0 98 55 35.9477 FAM127A 0 genome.wustl.edu 37 X 134166473 134166473 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 134166473 134166473 G A SNP FAM127A ENST00000257013 human ensembl 74_37 +1 novel silent c.60 p.T20 0.001 NULL NULL - no_errors FAM127A HGNC ENSG00000134590 112 0 0 63 35 35.7143 SAGE1 0 genome.wustl.edu 37 X 134989148 134989148 + Missense_Mutation SNP A A C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 134989148 134989148 A C SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.800 p.N267T 0.003 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 118 0 0 105 43 29.0541 MMGT1 0 genome.wustl.edu 37 X 135047268 135047268 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 135047268 135047268 G A SNP MMGT1 ENST00000433339 human ensembl 74_37 -1 known missense c.506 p.S169L 0.998 NULL pfam_Magnesium_transport - no_errors MMGT1 HGNC ENSG00000169446 205 0 0 160 73 31.3305 ARHGEF6 0 genome.wustl.edu 37 X 135751673 135751673 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 135751673 135751673 C T SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.2158 p.A720T 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 91 0 0 78 34 30.3571 RBMX 0 genome.wustl.edu 37 X 135956574 135956574 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 135956574 135956574 C T SNP RBMX ENST00000320676 human ensembl 74_37 -1 known silent c.903 p.P301 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 118 0 0 85 25 22.7273 FGF13 0 genome.wustl.edu 37 X 137793063 137793063 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 137793063 137793063 T C SNP FGF13 ENST00000315930 human ensembl 74_37 -1 known missense c.103 p.K35E 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 107 0 0 75 33 30.5556 SPANXC 0 genome.wustl.edu 37 X 140335784 140335784 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 140335784 140335784 G A SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known missense c.160 p.R54C 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 190 0 0 169 58 25.5507 SPANXN3 0 genome.wustl.edu 37 X 142605183 142605183 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 142605183 142605183 T A SNP SPANXN3 ENST00000370503 human ensembl 74_37 -1 known missense c.37 p.T13S 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN3 HGNC ENSG00000189252 131 0 0 108 65 37.5723 TMEM257 0 genome.wustl.edu 37 X 144909328 144909328 + Missense_Mutation SNP T T G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 144909328 144909328 T G SNP TMEM257 ENST00000408967 human ensembl 74_37 +1 known missense c.133 p.L45V 0.006 NULL NULL - no_errors TMEM257 HGNC ENSG00000221870 65 0 0 91 5 5.20833 IL3RA 0 genome.wustl.edu 37 X 1471117 1471117 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 1471117 1471117 C T SNP IL3RA ENST00000331035 human ensembl 74_37 +1 known silent c.423 p.N141 0.000 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 69 0 0 33 20 37.7358 ZNF275 0 genome.wustl.edu 37 X 152613196 152613196 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 152613196 152613196 C T SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known silent c.1143 p.C381 0.211 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 37 0 0 20 6 23.0769 ATP2B3 0 genome.wustl.edu 37 X 152813442 152813442 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 152813442 152813442 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known nonsense c.1108 p.Q370* 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 99 0 0 88 35 28.4553 FAM58A 0 genome.wustl.edu 37 X 152860096 152860096 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 152860096 152860096 C T SNP FAM58A ENST00000406277 human ensembl 74_37 -1 known missense c.332 p.R111H 0.681 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors FAM58A HGNC ENSG00000147382 94 0 0 76 16 17.3913 PLXNB3 0 genome.wustl.edu 37 X 153042773 153042773 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 153042773 153042773 C T SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.5107 p.R1703C 0.996 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,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 PLXNB3 HGNC ENSG00000198753 24 0 0 9 5 35.7143 SRPK3 0 genome.wustl.edu 37 X 153047269 153047269 + Missense_Mutation SNP T T A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 153047269 153047269 T A SNP SRPK3 ENST00000370101 human ensembl 74_37 +1 known missense c.371 p.I124N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_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 SRPK3 HGNC ENSG00000184343 74 0 0 54 21 28 L1CAM 0 genome.wustl.edu 37 X 153128277 153128277 + Silent SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 153128277 153128277 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.3621 p.D1207 0.397 NULL 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 55 0 0 28 25 47.1698 RENBP 0 genome.wustl.edu 37 X 153207102 153207102 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 153207102 153207102 G A SNP RENBP ENST00000412763 human ensembl 74_37 -1 known missense c.692 p.T231I 0.654 superfamily_6-hairpin_glycosidase-like pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like - no_errors RENBP HGNC ENSG00000102032 63 0 0 50 20 28.5714 GDI1 0 genome.wustl.edu 37 X 153669509 153669509 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 153669509 153669509 C T SNP GDI1 ENST00000447750 human ensembl 74_37 +1 known silent c.786 p.N262 0.511 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 158 0 0 135 20 12.9032 FAM50A 0 genome.wustl.edu 37 X 153678623 153678623 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 153678623 153678623 C T SNP FAM50A ENST00000393600 human ensembl 74_37 +1 known missense c.967 p.R323C 1.000 pfam_XAP5 pfam_XAP5 - no_errors FAM50A HGNC ENSG00000071859 90 0 0 71 28 28.2828 PLXNA3 0 genome.wustl.edu 37 X 153689602 153689602 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 153689602 153689602 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.758 p.A253V 0.642 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 80 0 0 101 11 9.82143 LAGE3 0 genome.wustl.edu 37 X 153706395 153706395 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 153706395 153706395 C T SNP LAGE3 ENST00000357360 human ensembl 74_37 -1 known missense c.320 p.R107H 0.000 pfam_EKC/KEOPS_Pcc1 pfam_EKC/KEOPS_Pcc1 - no_errors LAGE3 HGNC ENSG00000196976 29 0 0 32 18 36 RAB39B 0 genome.wustl.edu 37 X 154490449 154490449 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 154490449 154490449 C T SNP RAB39B ENST00000369454 human ensembl 74_37 -1 known missense c.281 p.R94H 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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39B HGNC ENSG00000155961 319 0 0 266 134 33.5 ACE2 0 genome.wustl.edu 37 X 15607507 15607507 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 15607507 15607507 C T SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.656 p.R219H 0.982 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 201 0 0 158 61 27.8539 AKAP17A 0 genome.wustl.edu 37 X 1712726 1712726 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 1712726 1712726 G A SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known missense c.371 p.R124H 0.833 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 119 0 0 73 58 44.2748 CDKL5 0 genome.wustl.edu 37 X 18622107 18622107 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 18622107 18622107 C T SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known missense c.1063 p.R355W 0.997 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 CDKL5 HGNC ENSG00000008086 204 0 0 203 16 7.30594 MAP3K15 0 genome.wustl.edu 37 X 19475114 19475114 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 19475114 19475114 C T SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known silent c.912 p.L304 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 43 0 0 42 17 28.8136 KLHL34 0 genome.wustl.edu 37 X 21674083 21674083 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 21674083 21674083 C T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known silent c.1824 p.A608 0.022 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 24 0 0 14 6 30 MAGEB6 0 genome.wustl.edu 37 X 26212473 26212473 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 26212473 26212473 C T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known silent c.510 p.A170 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 88 0 0 66 21 24.1379 ARSD 0 genome.wustl.edu 37 X 2825515 2825515 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 2825515 2825515 G A SNP ARSD ENST00000381154 human ensembl 74_37 -1 known missense c.1579 p.R527W 0.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 14 0 0 8 6 42.8571 MXRA5 0 genome.wustl.edu 37 X 3240641 3240641 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 3240641 3240641 G T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.3085 p.P1029T 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 133 0 0 95 46 32.6241 FAM47A 0 genome.wustl.edu 37 X 34149285 34149285 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 34149285 34149285 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.1111 p.R371W 0.001 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 84 0 0 50 27 35.0649 FAM47B 0 genome.wustl.edu 37 X 34962859 34962859 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 34962859 34962859 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known silent c.1911 p.D637 0.000 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 153 0 0 152 68 30.9091 USP9X 0 genome.wustl.edu 37 X 40996215 40996215 + Silent SNP A A G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 40996215 40996215 A G SNP USP9X ENST00000324545 human ensembl 74_37 +1 known silent c.594 p.S198 0.997 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 40 0 0 41 24 36.9231 RGN 0 genome.wustl.edu 37 X 46943850 46943850 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 46943850 46943850 C T SNP RGN ENST00000336169 human ensembl 74_37 +1 known missense c.197 p.S66L 0.419 pfam_SGL pfam_SGL,prints_SMP-30,prints_Regucalcin - no_errors RGN HGNC ENSG00000130988 12 0 0 19 3 13.6364 SSX5 0 genome.wustl.edu 37 X 48053565 48053565 + Missense_Mutation SNP C C A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 48053565 48053565 C A SNP SSX5 ENST00000311798 human ensembl 74_37 -1 known missense c.403 p.V135F 0.051 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 82 0 0 97 16 14.1593 TBC1D25 0 genome.wustl.edu 37 X 48399811 48399811 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 48399811 48399811 C T SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known nonsense c.214 p.R72* 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 TBC1D25 HGNC ENSG00000068354 135 0 0 96 50 34.2466 PQBP1 0 genome.wustl.edu 37 X 48759706 48759706 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 48759706 48759706 C T SNP PQBP1 ENST00000218224 human ensembl 74_37 +1 known silent c.489 p.R163 0.011 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PQBP1 HGNC ENSG00000102103 22 0 0 17 5 22.7273 CCDC120 0 genome.wustl.edu 37 X 48922187 48922187 + Missense_Mutation SNP T T C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 48922187 48922187 T C SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known missense c.716 p.L239P 1.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 11 0 0 9 4 30.7692 SYP 0 genome.wustl.edu 37 X 49049793 49049793 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 49049793 49049793 C T SNP SYP ENST00000263233 human ensembl 74_37 -1 known missense c.551 p.R184H 0.074 pfam_Marvel pfam_Marvel,prints_Synaptophysin/porin - no_errors SYP HGNC ENSG00000102003 41 0 0 28 12 30 GPR173 0 genome.wustl.edu 37 X 53106173 53106173 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 53106173 53106173 G A SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known missense c.370 p.A124T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 68 0 0 58 12 17.1429 FAM120C 0 genome.wustl.edu 37 X 54208985 54208985 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 54208985 54208985 G A SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.647 p.P216L 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 18 0 0 15 4 21.0526 MAGED2 0 genome.wustl.edu 37 X 54841883 54841883 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 54841883 54841883 G A SNP MAGED2 ENST00000218439 human ensembl 74_37 +1 known missense c.1589 p.R530Q 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 21 0 0 12 7 36.8421 TRO 0 genome.wustl.edu 37 X 54957360 54957360 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 54957360 54957360 C T SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.4203 p.N1401 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 58 0 0 27 15 35.7143 USP51 0 genome.wustl.edu 37 X 55514444 55514444 + Missense_Mutation SNP C C G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 55514444 55514444 C G SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.929 p.R310T 0.992 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 82 0 0 78 31 28.4404 NLGN3 0 genome.wustl.edu 37 X 70389754 70389754 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 70389754 70389754 G A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.2354 p.R785H 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 21 0 0 5 4 44.4444 HDAC8 0 genome.wustl.edu 37 X 71681927 71681927 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 71681927 71681927 G A SNP HDAC8 ENST00000373573 human ensembl 74_37 -1 known missense c.932 p.T311M 0.994 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC8 HGNC ENSG00000147099 72 0 0 57 25 30.4878 XIST 0 genome.wustl.edu 37 X 73065310 73065310 + RNA SNP A A T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 73065310 73065310 A T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 142 0 0 133 50 27.3224 ZCCHC13 0 genome.wustl.edu 37 X 73524363 73524363 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 73524363 73524363 C T SNP ZCCHC13 ENST00000339534 human ensembl 74_37 +1 known missense c.262 p.R88C 0.994 superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ENSG00000187969 118 0 0 75 26 25.7426 KIAA2022 0 genome.wustl.edu 37 X 73961202 73961202 + Missense_Mutation SNP G G A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 73961202 73961202 G A SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.3190 p.R1064C 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 93 0 0 73 32 30.4762 TBX22 0 genome.wustl.edu 37 X 79279656 79279656 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 79279656 79279656 C T SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.451 p.R151C 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_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 TBX22 HGNC ENSG00000122145 68 0 0 52 19 26.7606 BRWD3 0 genome.wustl.edu 37 X 79980463 79980463 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 79980463 79980463 C T SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.1490 p.R497Q 0.976 superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 55 0 0 47 27 36.4865 POU3F4 0 genome.wustl.edu 37 X 82764299 82764299 + Missense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 82764299 82764299 C T SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.967 p.R323C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,prints_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 POU3F4 HGNC ENSG00000196767 35 0 0 20 15 42.8571 NAP1L3 0 genome.wustl.edu 37 X 92927271 92927271 + Missense_Mutation SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 92927271 92927271 G T SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.1033 p.L345M 0.966 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 55 0 0 48 14 22.5806 DIAPH2 0 genome.wustl.edu 37 X 96854260 96854260 + Nonsense_Mutation SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 96854260 96854260 C T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known nonsense c.3250 p.R1084* 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 9 0 0 16 7 30.4348 SHROOM2 0 genome.wustl.edu 37 X 9914758 9914758 + Silent SNP C C T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 9914758 9914758 C T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known silent c.4632 p.D1544 0.979 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 14 0 0 15 7 31.8182 PCDH19 0 genome.wustl.edu 37 X 99551449 99551449 + Silent SNP G G T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 99551449 99551449 G T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.3273 p.A1091 0.827 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 91 0 0 69 27 28.125 WDR47 0 genome.wustl.edu 37 1 109560141 109560141 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 109560141 109560141 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.241 p.R81fs 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 46 0 0 33 42 56 SLC16A4 0 genome.wustl.edu 37 1 110906426 110906427 + In_Frame_Ins INS - - AAA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 110906426 110906427 - AAA INS SLC16A4 ENST00000369779 human ensembl 74_37 -1 known in_frame_ins c.1426_1425 p.475in_frame_insF 0.998:0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 74 0 0 83 25 23.1481 PRDM2 0 genome.wustl.edu 37 1 14107246 14107246 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 14107246 14107246 C - DEL PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_del c.2956 p.P987fs 0.994 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 83 0 0 74 19 20.4301 PRDM2 0 genome.wustl.edu 37 1 14107892 14107893 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 14107892 14107893 - T INS PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_ins c.3602_3603 p.L1203fs 1.000:0.389 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 130 0 0 99 47 32.1918 PLEKHO1 0 genome.wustl.edu 37 1 150131249 150131249 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 150131249 150131249 C - DEL PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known frame_shift_del c.659 p.Q222fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 50 0 0 50 12 19.3548 SLC27A3 0 genome.wustl.edu 37 1 153749150 153749150 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 153749150 153749150 C - DEL SLC27A3 ENST00000368661 human ensembl 74_37 +1 known frame_shift_del c.965 p.Q324fs 0.971 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 49 0 0 49 16 24.6154 SLC39A1 0 genome.wustl.edu 37 1 153934780 153934781 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 153934780 153934781 - C INS SLC39A1 ENST00000310483 human ensembl 74_37 -1 known frame_shift_ins c.234_233 p.V79fs 0.899:1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A1 HGNC ENSG00000143570 106 0 0 116 18 13.4328 NES 0 genome.wustl.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 102 0 0 122 58 32.2222 ENSG00000228863 0 genome.wustl.edu 37 1 160640798 160640798 + RNA DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 160640798 160640798 T - DEL ENSG00000228863 ENST00000598917 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors RP11-404F10.2 Clone_based_vega_gene ENSG00000228863 17 0 0 28 8 22.2222 ILDR2 0 genome.wustl.edu 37 1 166890564 166890564 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 166890564 166890564 C - DEL ILDR2 ENST00000271417 human ensembl 74_37 -1 known frame_shift_del c.1264 p.V422fs 0.548 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 18 0 0 19 11 36.6667 ADCY10 0 genome.wustl.edu 37 1 167863165 167863166 + Frame_Shift_Ins INS - - AA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 167863165 167863166 - AA INS ADCY10 ENST00000367851 human ensembl 74_37 -1 known frame_shift_ins c.754_753 p.A251fs 0.967:0.963 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 34 0 0 59 17 22.3684 ADCY10 0 genome.wustl.edu 37 1 167870995 167870995 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 167870995 167870995 T - DEL ADCY10 ENST00000367851 human ensembl 74_37 -1 known frame_shift_del c.341 p.N114fs 0.188 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase 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 193 0 0 238 60 20.1342 BRINP3 0 genome.wustl.edu 37 1 190067583 190067583 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 190067583 190067583 A - DEL BRINP3 ENST00000367462 human ensembl 74_37 -1 known frame_shift_del c.1866 p.F622fs 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 306 0 0 297 103 25.75 GOLT1A 0 genome.wustl.edu 37 1 204170836 204170836 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 204170836 204170836 C - DEL GOLT1A ENST00000308302 human ensembl 74_37 -1 known frame_shift_del c.221 p.G74fs 1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1A HGNC ENSG00000174567 134 0 0 139 37 21.0227 DYRK3 0 genome.wustl.edu 37 1 206820772 206820772 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 206820772 206820772 T - DEL DYRK3 ENST00000367109 human ensembl 74_37 +1 known frame_shift_del c.229 p.L78fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK3 HGNC ENSG00000143479 90 0 0 107 30 21.8978 EPHX1 0 genome.wustl.edu 37 1 226016531 226016531 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 226016531 226016531 G - DEL EPHX1 ENST00000272167 human ensembl 74_37 +1 known frame_shift_del c.101 p.P36fs 1.000 pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 16 0 0 25 7 21.875 MAP10 0 genome.wustl.edu 37 1 232943121 232943122 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 232943121 232943122 - A INS MAP10 ENST00000418460 human ensembl 74_37 +1 known frame_shift_ins c.2352_2353 p.I785fs 0.000:0.000 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 107 0 0 101 27 21.0938 ARID4B 0 genome.wustl.edu 37 1 235345419 235345419 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 235345419 235345419 T - DEL ARID4B ENST00000264183 human ensembl 74_37 -1 known frame_shift_del c.2815 p.T939fs 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 60 0 0 65 30 31.5789 GGPS1 0 genome.wustl.edu 37 1 235505913 235505913 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 235505913 235505913 A - DEL GGPS1 ENST00000282841 human ensembl 74_37 +1 known frame_shift_del c.729 p.K245fs 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 76 0 0 55 15 21.4286 LYPLA2 0 genome.wustl.edu 37 1 24119502 24119502 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 24119502 24119502 T - DEL LYPLA2 ENST00000374514 human ensembl 74_37 +1 known frame_shift_del c.83 p.L30fs 1.000 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_AB_hydrolase_3 - no_errors LYPLA2 HGNC ENSG00000011009 169 0 0 114 49 30.0613 EXO1 0 genome.wustl.edu 37 1 242045292 242045292 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 242045292 242045292 A - DEL EXO1 ENST00000348581 human ensembl 74_37 +1 known frame_shift_del c.2184 p.D731fs 0.001 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 45 0 0 49 15 23.4375 ARID1A 0 genome.wustl.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 27105931 27105931 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5542 p.D1850fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 73 0 0 50 19 27.5362 MAP3K6 0 genome.wustl.edu 37 1 27687696 27687696 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 27687696 27687696 G - DEL MAP3K6 ENST00000357582 human ensembl 74_37 -1 known frame_shift_del c.1784 p.P595fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 22 0 0 12 9 42.8571 PLK3 0 genome.wustl.edu 37 1 45270020 45270021 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 45270020 45270021 - C INS PLK3 ENST00000372201 human ensembl 74_37 +1 known frame_shift_ins c.1352_1353 p.A453fs 1.000:1.000 NULL 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 PLK3 HGNC ENSG00000173846 52 0 0 38 10 20.8333 FAF1 0 genome.wustl.edu 37 1 51005335 51005336 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 51005335 51005336 - T INS FAF1 ENST00000371778 human ensembl 74_37 -1 known frame_shift_ins c.1334_1333 p.T445fs 1.000:1.000 smart_UAS pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 20 0 0 29 9 23.6842 FGGY 0 genome.wustl.edu 37 1 59812017 59812017 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 59812017 59812017 G - DEL FGGY ENST00000303721 human ensembl 74_37 +1 known frame_shift_del c.412 p.V140fs 0.997 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 61 0 0 49 17 25.7576 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 32 0 0 49 9 15.5172 WDR63 0 genome.wustl.edu 37 1 85598680 85598680 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 85598680 85598680 A - DEL WDR63 ENST00000294664 human ensembl 74_37 +1 known frame_shift_del c.2675 p.*892fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 131 0 0 137 43 23.8889 RERE 0 genome.wustl.edu 37 1 8674689 8674690 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 8674689 8674690 - G INS RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_ins c.453_452 p.A152fs 1.000:1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Atrophin-like,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 RERE HGNC ENSG00000142599 91 0 0 78 13 14.2857 ZNF644 0 genome.wustl.edu 37 1 91406040 91406040 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 91406040 91406040 T - DEL ZNF644 ENST00000337393 human ensembl 74_37 -1 known frame_shift_del c.871 p.R291fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 60 0 0 41 18 30.5085 SPSB1 0 genome.wustl.edu 37 1 9416314 9416315 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 1 9416314 9416315 - C INS SPSB1 ENST00000328089 human ensembl 74_37 +1 known frame_shift_ins c.364_365 p.L124fs 1.000:1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB1 HGNC ENSG00000171621 49 0 0 40 8 16.6667 LDB1 0 genome.wustl.edu 37 10 103871226 103871226 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 103871226 103871226 G - DEL LDB1 ENST00000425280 human ensembl 74_37 -1 known frame_shift_del c.93 p.F32fs 0.934 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 68 0 0 44 11 20 SH3PXD2A 0 genome.wustl.edu 37 10 105363000 105363001 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 105363000 105363001 - G INS SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known frame_shift_ins c.1975_1974 p.K658fs 0.110:0.139 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 221 0 0 189 56 22.8571 IDI1 0 genome.wustl.edu 37 10 1087270 1087271 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 1087270 1087271 - T INS IDI1 ENST00000381344 human ensembl 74_37 -1 known frame_shift_ins c.712_711 p.E237fs 0.962:0.240 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI1 HGNC ENSG00000067064 96 0 0 79 10 11.236 PRDX3 0 genome.wustl.edu 37 10 120936633 120936634 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 120936633 120936634 - C INS PRDX3 ENST00000298510 human ensembl 74_37 -1 known frame_shift_ins c.69_68 p.I24fs 0.832:0.980 NULL pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX3 HGNC ENSG00000165672 38 0 0 37 15 28.8462 ST8SIA6 0 genome.wustl.edu 37 10 17363321 17363321 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 17363321 17363321 T - DEL ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known frame_shift_del c.753 p.A252fs 0.024 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 64 0 0 55 11 16.6667 CACNB2 0 genome.wustl.edu 37 10 18828598 18828599 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 18828598 18828599 - A INS CACNB2 ENST00000324631 human ensembl 74_37 +1 known frame_shift_ins c.1928_1929 p.R646fs 1.000:1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 114 0 0 79 18 18.5567 PIP4K2A 0 genome.wustl.edu 37 10 22830828 22830828 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 22830828 22830828 G - DEL PIP4K2A ENST00000376573 human ensembl 74_37 -1 known frame_shift_del c.941 p.P314fs 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC ENSG00000150867 64 0 0 78 23 22.7723 MYO3A 0 genome.wustl.edu 37 10 26462760 26462760 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 26462760 26462760 A - DEL MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_del c.3567 p.M1192fs 0.509 superfamily_P-loop_NTPase 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 95 0 0 58 21 26.5823 ANKRD26 0 genome.wustl.edu 37 10 27295869 27295869 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 27295869 27295869 T - DEL ANKRD26 ENST00000436985 human ensembl 74_37 -1 known frame_shift_del c.5024 p.N1675fs 0.007 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 126 0 0 114 36 24 MASTL 0 genome.wustl.edu 37 10 27459254 27459254 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 27459254 27459254 A - DEL MASTL ENST00000375940 human ensembl 74_37 +1 known frame_shift_del c.1366 p.I458fs 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MASTL HGNC ENSG00000120539 48 0 0 39 15 27.7778 SIRT1 0 genome.wustl.edu 37 10 69676036 69676036 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 69676036 69676036 T - DEL SIRT1 ENST00000212015 human ensembl 74_37 +1 known frame_shift_del c.1930 p.L645fs 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 65 0 0 73 31 29.8077 SPOCK2 0 genome.wustl.edu 37 10 73827960 73827961 + Frame_Shift_Ins INS - - GGGG TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 73827960 73827961 - GGGG INS SPOCK2 ENST00000317376 human ensembl 74_37 -1 known frame_shift_ins c.574_573 p.A191fs 0.263:0.592 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK2 HGNC ENSG00000107742 10 0 0 6 6 50 GATA3 0 genome.wustl.edu 37 10 8115780 8115780 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 8115780 8115780 A - DEL GATA3 ENST00000379328 human ensembl 74_37 +1 known frame_shift_del c.1129 p.V379fs 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 89 0 0 79 20 20.202 MBL1P 0 genome.wustl.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 81680656 81680656 A - DEL MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MBL1P HGNC ENSG00000242600 14 0 0 24 8 25 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 59 0 0 46 37 44.5783 KIF20B 0 genome.wustl.edu 37 10 91483767 91483767 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 10 91483767 91483767 A - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.1769 p.K592fs 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 KIF20B HGNC ENSG00000138182 58 0 0 62 27 30.3371 AMPD3 0 genome.wustl.edu 37 11 10500144 10500145 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 10500144 10500145 - C INS AMPD3 ENST00000396553 human ensembl 74_37 +1 known frame_shift_ins c.293_294 p.A101fs 0.962:0.003 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 167 0 0 164 9 5.20231 TTC12 0 genome.wustl.edu 37 11 113195384 113195384 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 113195384 113195384 A - DEL TTC12 ENST00000314756 human ensembl 74_37 +1 known frame_shift_del c.302 p.N102fs 1.000 superfamily_ARM-type_fold pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 47 0 0 40 5 11.1111 DPAGT1 0 genome.wustl.edu 37 11 118969142 118969143 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 118969142 118969143 - A INS DPAGT1 ENST00000354202 human ensembl 74_37 -1 known frame_shift_ins c.699_698 p.T234fs 1.000:1.000 pfam_Glycosyl_transferase_4 pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 122 0 0 172 41 19.2488 FLI1 0 genome.wustl.edu 37 11 128680804 128680805 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 128680804 128680805 - G INS FLI1 ENST00000527786 human ensembl 74_37 +1 known frame_shift_ins c.1280_1281 p.I430fs 0.998:0.734 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FLI1 HGNC ENSG00000151702 119 0 0 86 19 18.0952 NCAPD3 0 genome.wustl.edu 37 11 134048586 134048586 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 67 0 0 74 5 6.32911 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 106 0 0 65 23 26.1364 CCDC73 0 genome.wustl.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 32635951 32635951 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1913 p.N638fs 0.024 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 22 0 0 28 6 17.6471 CCDC73 0 genome.wustl.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 32637520 32637520 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 48 0 0 40 11 21.5686 CCDC73 0 genome.wustl.edu 37 11 32676507 32676507 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 32676507 32676507 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.657 p.A220fs 0.987 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 20 0 0 25 9 26.4706 CSTF3 0 genome.wustl.edu 37 11 33117910 33117910 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 33117910 33117910 T - DEL CSTF3 ENST00000323959 human ensembl 74_37 -1 known frame_shift_del c.1317 p.K439fs 1.000 pfam_Suf,smart_HAT pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 58 0 0 66 15 18.5185 PGAP2 0 genome.wustl.edu 37 11 3846303 3846305 + In_Frame_Del DEL CTT CTT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 3846303 3846305 CTT - DEL PGAP2 ENST00000278243 human ensembl 74_37 +1 known in_frame_del c.762_764 p.F256in_frame_del 1.000:1.000:1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC ENSG00000148985 102 0 0 85 25 22.7273 ALX4 0 genome.wustl.edu 37 11 44286624 44286624 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 44286624 44286624 G - DEL ALX4 ENST00000329255 human ensembl 74_37 -1 known frame_shift_del c.1016 p.P339fs 0.977 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 39 0 0 22 2 8.33333 MAPK8IP1 0 genome.wustl.edu 37 11 45926551 45926551 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 45926551 45926551 A - DEL MAPK8IP1 ENST00000241014 human ensembl 74_37 +1 known frame_shift_del c.1923 p.N643fs 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 77 0 0 73 11 13.0952 C11orf94 0 genome.wustl.edu 37 11 45928455 45928456 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 45928455 45928456 - G INS C11orf94 ENST00000449465 human ensembl 74_37 -1 known frame_shift_ins c.140_139 p.L47fs 0.992:0.717 NULL NULL - no_errors C11orf94 HGNC ENSG00000234776 62 0 0 53 16 23.1884 CELF1 0 genome.wustl.edu 37 11 47494744 47494745 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 47494744 47494745 - G INS CELF1 ENST00000532048 human ensembl 74_37 -1 known frame_shift_ins c.1307_1306 p.Q436fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 61 0 0 76 19 20 OR51L1 0 genome.wustl.edu 37 11 5020583 5020584 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 5020583 5020584 - T INS OR51L1 ENST00000321543 human ensembl 74_37 +1 known frame_shift_ins c.371_372 p.V126fs 1.000:0.763 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 OR51L1 HGNC ENSG00000176798 173 0 0 143 47 24.7368 OR4A16 0 genome.wustl.edu 37 11 55111418 55111419 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 55111418 55111419 - T INS OR4A16 ENST00000314721 human ensembl 74_37 +1 known frame_shift_ins c.742_743 p.V250fs 0.397:0.532 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 75 0 0 48 12 20 OR52H1 0 genome.wustl.edu 37 11 5565960 5565960 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 5565960 5565960 A - DEL OR52H1 ENST00000322653 human ensembl 74_37 -1 known frame_shift_del c.794 p.F265fs 1.000 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 OR52H1 HGNC ENSG00000181616 78 0 0 74 25 25.2525 FAM111A 0 genome.wustl.edu 37 11 58920101 58920101 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 58920101 58920101 A - DEL FAM111A ENST00000361723 human ensembl 74_37 +1 known frame_shift_del c.960 p.N322fs 0.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 46 0 0 45 26 36.6197 INCENP 0 genome.wustl.edu 37 11 61912525 61912527 + In_Frame_Del DEL GGA GGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 61912525 61912527 GGA - DEL INCENP ENST00000394818 human ensembl 74_37 +1 known in_frame_del c.1677_1679 p.E561in_frame_del 1.000:1.000:1.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 34 0 0 27 10 27.027 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 77 0 0 70 25 26.3158 RTN3 0 genome.wustl.edu 37 11 63525656 63525656 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 63525656 63525656 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.3082 p.K1030fs 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 55 0 0 66 17 20.4819 PPP1R14B 0 genome.wustl.edu 37 11 64012791 64012792 + Frame_Shift_Del DEL AT AT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 64012791 64012792 AT - DEL PPP1R14B ENST00000542235 human ensembl 74_37 -1 putative frame_shift_del c.2_1 p.M1fs 0.273:0.065 NULL pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 19 0 0 16 5 23.8095 CCDC88B 0 genome.wustl.edu 37 11 64111890 64111891 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 64111890 64111891 - A INS CCDC88B ENST00000356786 human ensembl 74_37 +1 known frame_shift_ins c.1877_1878 p.R627fs 0.000:0.000 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 28 0 0 21 8 27.5862 MEN1 0 genome.wustl.edu 37 11 64575082 64575083 + Frame_Shift_Ins INS - - CA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 64575082 64575083 - CA INS MEN1 ENST00000337652 human ensembl 74_37 -1 known frame_shift_ins c.740_739 p.A247fs 1.000:1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 107 0 0 127 36 22.0859 NAALADL1 0 genome.wustl.edu 37 11 64825900 64825901 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 64825900 64825901 - T INS NAALADL1 ENST00000358658 human ensembl 74_37 -1 known frame_shift_ins c.94_93 p.A31fs 0.000:0.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 31 0 0 24 7 22.5806 SLC25A45 0 genome.wustl.edu 37 11 65146856 65146856 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 65146856 65146856 C - DEL SLC25A45 ENST00000398802 human ensembl 74_37 -1 known frame_shift_del c.330 p.F111fs 0.005 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 59 0 0 36 11 23.4043 EPS8L2 0 genome.wustl.edu 37 11 723305 723305 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 723305 723305 C - DEL EPS8L2 ENST00000318562 human ensembl 74_37 +1 known frame_shift_del c.1406 p.P471fs 0.005 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 60 0 0 68 10 12.8205 TALDO1 0 genome.wustl.edu 37 11 755877 755885 + Splice_Site DEL AGCCATCGA AGCCATCGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AGCCATCGA AGCCATCGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 11 755877 755885 AGCCATCGA - DEL TALDO1 ENST00000319006 human ensembl 74_37 +1 known splice_site_del c.98-2_98-1 e2-1 0.996:1.000:1.000:1.000:1.000:1.000:0.998:1.000:0.996 - - - no_errors TALDO1 HGNC ENSG00000177156 50 0 0 34 9 20.9302 ENSG00000255641 0 genome.wustl.edu 37 12 10587929 10587929 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 10587929 10587929 T - DEL ENSG00000255641 ENST00000539033 human ensembl 74_37 -1 known frame_shift_del c.268 p.T90fs 0.000 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 - no_errors NKG2-E Uniprot_gn ENSG00000255641 147 0 0 182 33 15.3488 MVK 0 genome.wustl.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 110019240 110019240 C - DEL MVK ENST00000228510 human ensembl 74_37 +1 known frame_shift_del c.412 p.A141fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 55 0 0 55 10 15.3846 HNF1A 0 genome.wustl.edu 37 12 121432115 121432115 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 121432115 121432115 G - DEL HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_del c.862 p.P291fs 0.964 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 19 0 0 13 4 23.5294 GTF2H3 0 genome.wustl.edu 37 12 124132617 124132617 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 124132617 124132617 T - DEL GTF2H3 ENST00000543341 human ensembl 74_37 +1 known frame_shift_del c.308 p.L104fs 0.793 pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34 pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34 - no_errors GTF2H3 HGNC ENSG00000111358 92 0 0 78 5 6.0241 HEBP1 0 genome.wustl.edu 37 12 13128322 13128322 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 13128322 13128322 C - DEL HEBP1 ENST00000014930 human ensembl 74_37 -1 known frame_shift_del c.490 p.D164fs 0.367 pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom - no_errors HEBP1 HGNC ENSG00000013583 67 0 0 76 27 26.2136 ATF7IP 0 genome.wustl.edu 37 12 14577801 14577802 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 14577801 14577802 - A INS ATF7IP ENST00000261168 human ensembl 74_37 +1 known frame_shift_ins c.952_953 p.N320fs 0.416:0.322 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 45 0 0 76 20 20.8333 ATF7IP 0 genome.wustl.edu 37 12 14578360 14578360 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 14578360 14578360 A - DEL ATF7IP ENST00000261168 human ensembl 74_37 +1 known frame_shift_del c.1511 p.D506fs 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 64 0 0 70 18 20.4545 PLCZ1 0 genome.wustl.edu 37 12 18889158 18889158 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 18889158 18889158 A - DEL PLCZ1 ENST00000266505 human ensembl 74_37 -1 known frame_shift_del c.132 p.F44fs 1.000 pfscan_EF_hand_dom 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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 43 0 0 35 16 31.3725 GXYLT1 0 genome.wustl.edu 37 12 42499816 42499816 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 42499816 42499816 A - DEL GXYLT1 ENST00000398675 human ensembl 74_37 -1 known frame_shift_del c.668 p.L223fs 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 56 0 0 61 18 22.7848 PUS7L 0 genome.wustl.edu 37 12 44142360 44142361 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 44142360 44142361 - A INS PUS7L ENST00000344862 human ensembl 74_37 -1 known frame_shift_ins c.963_962 p.L321fs 1.000:1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,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 PUS7L HGNC ENSG00000129317 78 0 0 91 5 5.20833 RAD51AP1 0 genome.wustl.edu 37 12 4668105 4668106 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 4668105 4668106 - T INS RAD51AP1 ENST00000228843 human ensembl 74_37 +1 known frame_shift_ins c.1005_1006 p.L335fs 1.000:0.997 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 74 0 0 53 19 26.3889 DYRK4 0 genome.wustl.edu 37 12 4719362 4719362 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 4719362 4719362 A - DEL DYRK4 ENST00000010132 human ensembl 74_37 +1 known frame_shift_del c.1057 p.R355fs 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 DYRK4 HGNC ENSG00000010219 93 0 0 80 31 27.9279 LARP4 0 genome.wustl.edu 37 12 50847266 50847267 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 50847266 50847267 - T INS LARP4 ENST00000429001 human ensembl 74_37 +1 known frame_shift_ins c.846_847 p.A284fs 0.557:0.998 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 82 0 0 60 18 23.0769 SLC4A8 0 genome.wustl.edu 37 12 51844775 51844775 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 51844775 51844775 G - DEL SLC4A8 ENST00000453097 human ensembl 74_37 +1 known frame_shift_del c.246 p.E84fs 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 8 0 0 4 4 50 OR6C75 0 genome.wustl.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 55759486 55759486 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.592 p.L200fs 0.582 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 102 0 0 56 67 54.4715 ITGA7 0 genome.wustl.edu 37 12 56094788 56094788 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 56094788 56094788 G - DEL ITGA7 ENST00000555728 human ensembl 74_37 -1 known frame_shift_del c.565 p.Q189fs 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 52 0 0 60 17 22.0779 CDK2 0 genome.wustl.edu 37 12 56362650 56362650 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 56362650 56362650 T - DEL CDK2 ENST00000266970 human ensembl 74_37 +1 known frame_shift_del c.404 p.N136fs 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 CDK2 HGNC ENSG00000123374 100 0 0 99 39 28.2609 SMARCC2 0 genome.wustl.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 40 0 0 38 13 25.4902 R3HDM2 0 genome.wustl.edu 37 12 57674204 57674205 + In_Frame_Ins INS - - TGC TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 57674204 57674205 - TGC INS R3HDM2 ENST00000347140 human ensembl 74_37 -1 known in_frame_ins c.1239_1238 p.414in_frame_insQ 0.994:0.998 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 72 0 0 81 5 5.81395 MBD6 0 genome.wustl.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 57921401 57921401 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2194 p.Q734fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 102 0 0 104 42 28.7671 ARHGEF25 0 genome.wustl.edu 37 12 58004353 58004353 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 58004353 58004353 C - DEL ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known frame_shift_del c.100 p.P35fs 0.892 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 28 0 0 20 6 23.0769 MON2 0 genome.wustl.edu 37 12 62960172 62960172 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 62960172 62960172 A - DEL MON2 ENST00000393630 human ensembl 74_37 +1 known frame_shift_del c.4268 p.T1425fs 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 101 0 0 91 32 26.0163 ZNF384 0 genome.wustl.edu 37 12 6787521 6787521 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 6787521 6787521 G - DEL ZNF384 ENST00000361959 human ensembl 74_37 -1 known frame_shift_del c.458 p.P153fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 45 0 0 43 8 15.6863 CEP290 0 genome.wustl.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 12 88524079 88524079 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 139 0 0 117 42 26.4151 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 19 0 0 13 8 38.0952 ATP12A 0 genome.wustl.edu 37 13 25255819 25255820 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 25255819 25255820 - A INS ATP12A ENST00000218548 human ensembl 74_37 +1 known frame_shift_ins c.129_130 p.N44fs 0.269:0.026 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 ATP12A HGNC ENSG00000075673 95 0 0 94 20 17.5439 PDS5B 0 genome.wustl.edu 37 13 33344580 33344580 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 33344580 33344580 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3946 p.K1318fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 48 0 0 63 16 20.2532 NBEA 0 genome.wustl.edu 37 13 35733663 35733663 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 35733663 35733663 A - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.3355 p.N1121fs 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 46 0 0 38 14 26.9231 LRRC63 0 genome.wustl.edu 37 13 46844471 46844471 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 46844471 46844471 G - DEL LRRC63 ENST00000446175 human ensembl 74_37 +1 known frame_shift_del c.1553 p.A520fs 0.849 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 62 0 0 65 16 19.7531 LMO7 0 genome.wustl.edu 37 13 76415964 76415965 + Frame_Shift_Ins INS - - GA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 76415964 76415965 - GA INS LMO7 ENST00000357063 human ensembl 74_37 +1 known frame_shift_ins c.4032_4033 p.R1348fs 0.012:0.744 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 62 0 0 62 7 10.1449 EDNRB 0 genome.wustl.edu 37 13 78475267 78475267 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 78475267 78475267 A - DEL EDNRB ENST00000334286 human ensembl 74_37 -1 known frame_shift_del c.877 p.Y293fs 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 47 0 0 51 26 33.7662 DOCK9 0 genome.wustl.edu 37 13 99502312 99502312 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 13 99502312 99502312 A - DEL DOCK9 ENST00000339416 human ensembl 74_37 -1 known frame_shift_del c.4005 p.F1335fs 1.000 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 9 0 0 8 6 42.8571 YY1 0 genome.wustl.edu 37 14 100728643 100728644 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 100728643 100728644 - A INS YY1 ENST00000262238 human ensembl 74_37 +1 known frame_shift_ins c.682_683 p.D231fs 1.000:1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 61 0 0 60 21 25.9259 MIR543 0 genome.wustl.edu 37 14 101498346 101498347 + RNA INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 101498346 101498347 - T INS MIR543 ENST00000390751 human ensembl 74_37 +1 known rna NULL NULL 0.995:0.956 - - - no_errors MIR543 HGNC ENSG00000212040 51 0 0 50 14 21.875 ADSSL1 0 genome.wustl.edu 37 14 105207521 105207522 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 105207521 105207522 - C INS ADSSL1 ENST00000332972 human ensembl 74_37 +1 known frame_shift_ins c.863_864 p.K291fs 1.000:0.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 45 0 0 30 6 16.6667 APEX1 0 genome.wustl.edu 37 14 20925577 20925578 + Frame_Shift_Del DEL CT CT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 20925577 20925578 CT - DEL APEX1 ENST00000216714 human ensembl 74_37 +1 known frame_shift_del c.867_868 p.L291fs 0.003:0.338 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX1 HGNC ENSG00000100823 174 0 0 158 60 27.5229 HOMEZ 0 genome.wustl.edu 37 14 23745310 23745310 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 23745310 23745310 A - DEL HOMEZ ENST00000431326 human ensembl 74_37 -1 known frame_shift_del c.1133 p.L378fs 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 54 0 0 44 22 33.3333 CPNE6 0 genome.wustl.edu 37 14 24542775 24542776 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 24542775 24542776 - T INS CPNE6 ENST00000537691 human ensembl 74_37 +1 known frame_shift_ins c.401_402 p.E137fs 1.000:1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 68 0 0 61 12 16.4384 C14orf23 0 genome.wustl.edu 37 14 29261305 29261305 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 29261305 29261305 A - DEL C14orf23 ENST00000399387 human ensembl 74_37 +1 known frame_shift_del c.342 p.T117fs 0.707 NULL NULL - no_errors C14orf23 HGNC ENSG00000186960 14 0 0 10 5 33.3333 G2E3 0 genome.wustl.edu 37 14 31071214 31071214 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 31071214 31071214 A - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_del c.887 p.A298fs 0.998 NULL pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 42 0 0 39 16 29.0909 G2E3 0 genome.wustl.edu 37 14 31074772 31074772 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 31074772 31074772 A - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_del c.1072 p.T361fs 0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 21 0 0 18 9 33.3333 MIA2 0 genome.wustl.edu 37 14 39703406 39703406 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 39703406 39703406 A - DEL MIA2 ENST00000556784 human ensembl 74_37 +1 putative frame_shift_del c.88 p.K31fs 0.987 superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 64 0 0 68 8 10.5263 FANCM 0 genome.wustl.edu 37 14 45642287 45642288 + Frame_Shift_Ins INS - - CT TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 45642287 45642288 - CT INS FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_ins c.2190_2191 p.S734fs 0.714:0.999 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 67 0 0 71 20 21.978 SOS2 0 genome.wustl.edu 37 14 50605444 50605445 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 50605444 50605445 - T INS SOS2 ENST00000216373 human ensembl 74_37 -1 known frame_shift_ins c.2844_2843 p.K949fs 1.000:1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 33 0 0 30 9 23.0769 NID2 0 genome.wustl.edu 37 14 52481919 52481919 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 52481919 52481919 G - DEL NID2 ENST00000216286 human ensembl 74_37 -1 known frame_shift_del c.3103 p.R1035fs 0.061 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 41 0 0 35 11 23.913 FUT8 0 genome.wustl.edu 37 14 66082954 66082956 + In_Frame_Del DEL GAG GAG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 66082954 66082956 GAG - DEL FUT8 ENST00000360689 human ensembl 74_37 +1 known in_frame_del c.345_347 p.R118in_frame_del 0.975:0.997:1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 77 0 0 56 15 21.1268 PAPLN 0 genome.wustl.edu 37 14 73718481 73718481 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 73718481 73718481 G - DEL PAPLN ENST00000427855 human ensembl 74_37 +1 known frame_shift_del c.780 p.D262fs 1.000 pfam_ADAM_spacer1 pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 22 0 0 22 3 12 ELMSAN1 0 genome.wustl.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 13 0 0 15 8 34.7826 YLPM1 0 genome.wustl.edu 37 14 75265533 75265533 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 75265533 75265533 A - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.3533 p.M1180fs 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 77 0 0 77 22 22.2222 FLRT2 0 genome.wustl.edu 37 14 86088949 86088949 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 86088949 86088949 C - DEL FLRT2 ENST00000330753 human ensembl 74_37 +1 known frame_shift_del c.1091 p.G366fs 0.894 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 79 0 0 85 28 24.7788 UNC79 0 genome.wustl.edu 37 14 94088050 94088050 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 14 94088050 94088050 A - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.4537 p.K1515fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 65 0 0 63 17 21.25 WASH3P 0 genome.wustl.edu 37 15 102516488 102516488 + RNA DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 102516488 102516488 C - DEL WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors WASH3P HGNC ENSG00000185596 45 0 0 72 5 6.49351 SLC12A6 0 genome.wustl.edu 37 15 34549916 34549916 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 34549916 34549916 A - DEL SLC12A6 ENST00000558589 human ensembl 74_37 -1 known frame_shift_del c.590 p.L197fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 64 0 0 54 18 25 MEIS2 0 genome.wustl.edu 37 15 37329090 37329090 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 37329090 37329090 T - DEL MEIS2 ENST00000561208 human ensembl 74_37 -1 known frame_shift_del c.825 p.K275fs 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 88 0 0 75 28 27.1845 RTF1 0 genome.wustl.edu 37 15 41749961 41749963 + In_Frame_Del DEL AGA AGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 41749961 41749963 AGA - DEL RTF1 ENST00000389629 human ensembl 74_37 +1 known in_frame_del c.549_551 p.E184in_frame_del 0.997:1.000:1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 133 0 0 135 46 25.4144 DYX1C1 0 genome.wustl.edu 37 15 55759182 55759182 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 55759182 55759182 T - DEL DYX1C1 ENST00000321149 human ensembl 74_37 -1 known frame_shift_del c.583 p.I195fs 0.004 NULL pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 25 0 0 27 7 20.5882 TRIP4 0 genome.wustl.edu 37 15 64686305 64686305 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 64686305 64686305 A - DEL TRIP4 ENST00000261884 human ensembl 74_37 +1 known frame_shift_del c.262 p.D90fs 0.948 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 31 0 0 32 13 28.8889 IGDCC4 0 genome.wustl.edu 37 15 65678319 65678319 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 65678319 65678319 G - DEL IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel frame_shift_del c.3030 p.S1011fs 0.001 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 19 0 0 11 3 21.4286 IGDCC4 0 genome.wustl.edu 37 15 65686807 65686807 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 65686807 65686807 G - DEL IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel frame_shift_del c.1656 p.S553fs 0.757 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 89 0 0 90 5 5.26316 MEGF11 0 genome.wustl.edu 37 15 66220800 66220800 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 66220800 66220800 G - DEL MEGF11 ENST00000409699 human ensembl 74_37 -1 known frame_shift_del c.1638 p.V547fs 0.034 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 53 0 0 42 7 14.2857 SPESP1 0 genome.wustl.edu 37 15 69238555 69238555 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 69238555 69238555 A - DEL SPESP1 ENST00000310673 human ensembl 74_37 +1 known frame_shift_del c.682 p.I230fs 0.337 NULL NULL - no_errors SPESP1 HGNC ENSG00000258484 101 0 0 77 24 23.7624 UACA 0 genome.wustl.edu 37 15 70961075 70961076 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 70961075 70961076 - T INS UACA ENST00000322954 human ensembl 74_37 -1 known frame_shift_ins c.1948_1947 p.L649fs 0.001:0.012 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 68 0 0 53 16 23.1884 NEIL1 0 genome.wustl.edu 37 15 75644674 75644674 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 75644674 75644674 C - DEL NEIL1 ENST00000355059 human ensembl 74_37 +1 known frame_shift_del c.564 p.F191fs 1.000 pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 63 0 0 45 11 19.6429 FSD2 0 genome.wustl.edu 37 15 83434691 83434691 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 83434691 83434691 C - DEL FSD2 ENST00000334574 human ensembl 74_37 -1 known frame_shift_del c.1646 p.G549fs 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 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 8 0 0 12 2 14.2857 BTBD1 0 genome.wustl.edu 37 15 83725144 83725147 + Frame_Shift_Del DEL AGTA AGTA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AGTA AGTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 83725144 83725147 AGTA - DEL BTBD1 ENST00000261721 human ensembl 74_37 -1 known frame_shift_del c.555_552 p.T185fs 0.981:1.000:0.999:0.009 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 51 0 0 36 11 23.4043 TM6SF1 0 genome.wustl.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 83805312 83805312 T - DEL TM6SF1 ENST00000379386 human ensembl 74_37 +1 known frame_shift_del c.1010 p.L339fs 0.172 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 91 0 0 89 41 31.5385 PDE8A 0 genome.wustl.edu 37 15 85634360 85634360 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 15 85634360 85634360 A - DEL PDE8A ENST00000310298 human ensembl 74_37 +1 known frame_shift_del c.800 p.K269fs 1.000 pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 56 0 0 55 25 31.25 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 73 0 0 74 34 31.4815 UNKL 0 genome.wustl.edu 37 16 1417261 1417263 + In_Frame_Del DEL CTT CTT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 1417261 1417263 CTT - DEL UNKL ENST00000389221 human ensembl 74_37 -1 known in_frame_del c.1869_1867 p.K623in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 8 0 0 3 2 40 KIAA0430 0 genome.wustl.edu 37 16 15690765 15690765 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 15690765 15690765 T - DEL KIAA0430 ENST00000396368 human ensembl 74_37 -1 known frame_shift_del c.5014 p.M1672fs 0.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 44 0 0 41 8 16.3265 DNAH3 0 genome.wustl.edu 37 16 21008625 21008625 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 21008625 21008625 C - DEL DNAH3 ENST00000261383 human ensembl 74_37 -1 known frame_shift_del c.6581 p.G2194fs 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 43 0 0 46 13 22.0339 ARHGAP17 0 genome.wustl.edu 37 16 24958802 24958802 + Splice_Site DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 24958802 24958802 C - DEL ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known splice_site_del c.1241+1 e14+1 1.000 - - - no_errors ARHGAP17 HGNC ENSG00000140750 37 0 0 37 15 28.8462 ATXN2L 0 genome.wustl.edu 37 16 28847350 28847350 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 28847350 28847350 G - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_del c.2992 p.1002fs 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 44 0 0 29 5 14.7059 PRRT2 0 genome.wustl.edu 37 16 29825016 29825016 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 29825016 29825016 C - DEL PRRT2 ENST00000567659 human ensembl 74_37 +1 known frame_shift_del c.641 p.R217fs 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 10 0 0 15 4 21.0526 ZNF48 0 genome.wustl.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 30409310 30409310 C - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known frame_shift_del c.739 p.R249fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 33 0 0 29 8 21.6216 ITGAL 0 genome.wustl.edu 37 16 30490784 30490785 + Splice_Site INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 30490784 30490785 - A INS ITGAL ENST00000356798 human ensembl 74_37 +1 known splice_site_ins c.576+2_576+1 e6+2 0.991:0.512 - - - no_errors ITGAL HGNC ENSG00000005844 30 0 0 34 7 17.0732 ZNF689 0 genome.wustl.edu 37 16 30616641 30616641 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 30616641 30616641 G - DEL ZNF689 ENST00000287461 human ensembl 74_37 -1 known frame_shift_del c.447 p.I150fs 0.998 smart_Znf_C2H2-like 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 92 0 0 66 30 31.25 NETO2 0 genome.wustl.edu 37 16 47120147 47120148 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 47120147 47120148 - T INS NETO2 ENST00000562435 human ensembl 74_37 -1 known frame_shift_ins c.987_986 p.N329fs 1.000:1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt 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 NETO2 HGNC ENSG00000171208 48 0 0 54 13 19.403 PPL 0 genome.wustl.edu 37 16 4935689 4935689 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 4935689 4935689 C - DEL PPL ENST00000345988 human ensembl 74_37 -1 known frame_shift_del c.2967 p.Q990fs 0.613 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 137 0 0 96 23 19.3277 CNOT1 0 genome.wustl.edu 37 16 58555109 58555110 + In_Frame_Ins INS - - TAC TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 58555109 58555110 - TAC INS CNOT1 ENST00000317147 human ensembl 74_37 -1 known in_frame_ins c.7030_7029 p.2343in_frame_insV 1.000:1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 82 0 0 75 35 31.8182 CCDC79 0 genome.wustl.edu 37 16 66819754 66819754 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 66819754 66819754 T - DEL CCDC79 ENST00000433154 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 0.091 superfamily_ARM-type_fold pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb - no_errors CCDC79 HGNC ENSG00000249961 9 0 0 10 2 16.6667 LRRC36 0 genome.wustl.edu 37 16 67397608 67397608 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 67397608 67397608 G - DEL LRRC36 ENST00000329956 human ensembl 74_37 +1 known frame_shift_del c.693 p.T233fs 0.406 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 95 0 0 88 16 15.3846 GFOD2 0 genome.wustl.edu 37 16 67719395 67719395 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 67719395 67719395 G - DEL GFOD2 ENST00000268797 human ensembl 74_37 -1 known frame_shift_del c.224 p.P75fs 1.000 pfam_Oxidoreductase_N pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 26 0 0 34 11 24.4444 MARVELD3 0 genome.wustl.edu 37 16 71668441 71668442 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 71668441 71668442 - G INS MARVELD3 ENST00000268485 human ensembl 74_37 +1 known frame_shift_ins c.941_942 p.Y317fs 0.128:0.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 45 0 0 46 9 16.3636 TERF2IP 0 genome.wustl.edu 37 16 75690320 75690320 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 75690320 75690320 A - DEL TERF2IP ENST00000300086 human ensembl 74_37 +1 known frame_shift_del c.1011 p.N339fs 0.723 NULL pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom - no_errors TERF2IP HGNC ENSG00000166848 221 0 0 219 92 29.582 ADAMTS18 0 genome.wustl.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 77356311 77356311 A - DEL ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known frame_shift_del c.2085 p.F695fs 0.998 NULL 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 121 0 0 68 52 43.3333 GSE1 0 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 16 85682289 85682290 - C INS GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_ins c.358_359 p.V123fs 1.000:0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 38 0 0 35 6 14.6341 ELAC2 0 genome.wustl.edu 37 17 12919107 12919108 + Frame_Shift_Del DEL AC AC - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 12919107 12919108 AC - DEL ELAC2 ENST00000338034 human ensembl 74_37 -1 known frame_shift_del c.410_409 p.V137fs 0.995:1.000 NULL pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 98 0 0 98 33 25.1908 WDR81 0 genome.wustl.edu 37 17 1638935 1638935 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 1638935 1638935 C - DEL WDR81 ENST00000409644 human ensembl 74_37 +1 known frame_shift_del c.5249 p.H1752fs 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 37 0 0 29 5 14.7059 MPRIP 0 genome.wustl.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 21 0 0 20 7 25.9259 RAI1 0 genome.wustl.edu 37 17 17696624 17696624 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 17696624 17696624 G - DEL RAI1 ENST00000353383 human ensembl 74_37 +1 known frame_shift_del c.362 p.A123fs 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 12 0 0 15 5 25 SPECC1 0 genome.wustl.edu 37 17 20107654 20107656 + In_Frame_Del DEL ACA ACA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 20107654 20107656 ACA - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known in_frame_del c.292_294 p.T100in_frame_del 0.000:0.021:0.001 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 281 0 0 238 72 23.2258 CCDC144CP 0 genome.wustl.edu 37 17 20239466 20239466 + RNA DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 20239466 20239466 A - DEL CCDC144CP ENST00000340196 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC144CP HGNC ENSG00000154898 32 0 0 37 4 9.7561 UBBP4 0 genome.wustl.edu 37 17 21731489 21731489 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 21731489 21731489 C - DEL UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_del c.564 p.D191fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 63 0 0 59 16 21.3333 METTL16 0 genome.wustl.edu 37 17 2323660 2323660 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 2323660 2323660 G - DEL METTL16 ENST00000263092 human ensembl 74_37 -1 known frame_shift_del c.1293 p.C432fs 0.000 pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 57 0 0 47 10 17.5439 PAFAH1B1 0 genome.wustl.edu 37 17 2570437 2570437 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 2570437 2570437 T - DEL PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known frame_shift_del c.344 p.F116fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 70 0 0 74 15 16.8539 NSRP1 0 genome.wustl.edu 37 17 28505167 28505167 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 28505167 28505167 A - DEL NSRP1 ENST00000247026 human ensembl 74_37 +1 known frame_shift_del c.250 p.K86fs 1.000 pfam_DUF2040 pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 79 0 0 49 18 26.8657 NF1 0 genome.wustl.edu 37 17 29684298 29684298 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 29684298 29684298 A - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.7881 p.K2628fs 0.953 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 38 0 0 33 13 28.2609 SLC35G3 0 genome.wustl.edu 37 17 33520676 33520676 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 33520676 33520676 G - DEL SLC35G3 ENST00000297307 human ensembl 74_37 -1 known frame_shift_del c.651 p.C218fs 0.992 NULL pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 105 0 0 86 14 14 KRTAP4-1 0 genome.wustl.edu 37 17 39340921 39340921 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 39340921 39340921 G - DEL KRTAP4-1 ENST00000398472 human ensembl 74_37 -1 known frame_shift_del c.186 p.S63fs 0.859 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 75 0 0 61 4 6.15385 NBR2 0 genome.wustl.edu 37 17 41297124 41297124 + RNA DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 41297124 41297124 A - DEL NBR2 ENST00000460115 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors NBR2 HGNC ENSG00000198496 23 0 0 19 9 32.1429 MPP2 0 genome.wustl.edu 37 17 41959741 41959741 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 41959741 41959741 G - DEL MPP2 ENST00000461854 human ensembl 74_37 -1 known frame_shift_del c.664 p.R222fs 0.739 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 50 0 0 45 13 22.4138 ALOX15 0 genome.wustl.edu 37 17 4539247 4539247 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 4539247 4539247 G - DEL ALOX15 ENST00000545513 human ensembl 74_37 -1 known frame_shift_del c.1034 p.T345fs 0.000 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_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 45 0 0 50 11 18.0328 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 54 0 0 57 13 18.5714 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 86 0 0 70 25 26.3158 RNF43 0 genome.wustl.edu 37 17 56435355 56435357 + In_Frame_Del DEL AGG AGG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 56435355 56435357 AGG - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known in_frame_del c.1782_1780 p.P594in_frame_del 0.010:0.011:0.013 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 111 0 0 87 25 22.3214 MTMR4 0 genome.wustl.edu 37 17 56590291 56590291 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 56590291 56590291 C - DEL MTMR4 ENST00000323456 human ensembl 74_37 -1 known frame_shift_del c.15 p.S8fs 0.999 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 53 0 0 33 16 32.6531 VMP1 0 genome.wustl.edu 37 17 57917177 57917178 + Frame_Shift_Del DEL GT GT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 57917177 57917178 GT - DEL VMP1 ENST00000262291 human ensembl 74_37 +1 known frame_shift_del c.1126_1127 p.C377fs 1.000:1.000 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 202 0 0 186 50 21.1864 POLG2 0 genome.wustl.edu 37 17 62492629 62492630 + Frame_Shift_Del DEL AG AG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 62492629 62492630 AG - DEL POLG2 ENST00000539111 human ensembl 74_37 -1 known frame_shift_del c.458_457 p.L153fs 0.018:0.010 NULL pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC ENSG00000256525 104 0 0 94 42 30.8824 TXNDC17 0 genome.wustl.edu 37 17 6544520 6544520 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 6544520 6544520 A - DEL TXNDC17 ENST00000250101 human ensembl 74_37 +1 known frame_shift_del c.118 p.S41fs 0.205 pfam_DUF953_thioredox,superfamily_Thioredoxin-like_fold pfam_DUF953_thioredox,superfamily_Thioredoxin-like_fold - no_errors TXNDC17 HGNC ENSG00000129235 62 0 0 37 14 27.451 SDK2 0 genome.wustl.edu 37 17 71394282 71394282 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 71394282 71394282 G - DEL SDK2 ENST00000392650 human ensembl 74_37 -1 known frame_shift_del c.3246 p.S1083fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 29 0 0 29 8 21.6216 CD300C 0 genome.wustl.edu 37 17 72541038 72541038 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 72541038 72541038 C - DEL CD300C ENST00000330793 human ensembl 74_37 -1 known frame_shift_del c.110 p.G37fs 0.667 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300C HGNC ENSG00000167850 43 0 0 32 10 23.8095 SLC16A5 0 genome.wustl.edu 37 17 73094188 73094188 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 73094188 73094188 G - DEL SLC16A5 ENST00000329783 human ensembl 74_37 +1 known frame_shift_del c.255 p.G87fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 84 0 0 70 16 18.6047 WRAP53 0 genome.wustl.edu 37 17 7606722 7606722 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 7606722 7606722 C - DEL WRAP53 ENST00000316024 human ensembl 74_37 +1 known frame_shift_del c.1565 p.A522fs 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 33 0 0 27 6 18.1818 HEXDC 0 genome.wustl.edu 37 17 80400207 80400208 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 80400207 80400208 - C INS HEXDC ENST00000337014 human ensembl 74_37 +1 known frame_shift_ins c.1497_1498 p.R501fs 0.000:0.001 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 25 0 0 18 5 21.7391 PFAS 0 genome.wustl.edu 37 17 8167584 8167585 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 17 8167584 8167585 - C INS PFAS ENST00000314666 human ensembl 74_37 +1 known frame_shift_ins c.1846_1847 p.T619fs 0.919:0.012 superfamily_AIR_synth_C_dom,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 32 0 0 41 4 8.88889 CHST9 0 genome.wustl.edu 37 18 24524315 24524316 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 24524315 24524316 - T INS CHST9 ENST00000284224 human ensembl 74_37 -1 known frame_shift_ins c.218_217 p.I73fs 0.924:0.877 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 41 0 0 34 17 33.3333 CCDC178 0 genome.wustl.edu 37 18 30913143 30913143 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 30913143 30913143 T - DEL CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_del c.874 p.M292fs 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 31 0 0 37 17 31.4815 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 47 0 0 48 11 18.6441 ZBTB7C 0 genome.wustl.edu 37 18 45566518 45566519 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 45566518 45566519 - C INS ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_ins c.961_960 p.P320fs 1.000:0.989 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 42 0 0 47 13 21.6667 ONECUT2 0 genome.wustl.edu 37 18 55104001 55104001 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 55104001 55104001 C - DEL ONECUT2 ENST00000491143 human ensembl 74_37 +1 known frame_shift_del c.1053 p.Q353fs 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 ONECUT2 HGNC ENSG00000119547 39 0 0 45 16 26.2295 ATP8B1 0 genome.wustl.edu 37 18 55371796 55371798 + In_Frame_Del DEL AAG AAG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 55371796 55371798 AAG - DEL ATP8B1 ENST00000283684 human ensembl 74_37 -1 known in_frame_del c.384_382 p.L128in_frame_del 0.999:1.000:1.000 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 ATP8B1 HGNC ENSG00000081923 29 0 0 27 13 32.5 ALPK2 0 genome.wustl.edu 37 18 56246941 56246941 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 56246941 56246941 A - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1067 p.L356fs 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 94 0 0 72 35 32.7103 ALPK2 0 genome.wustl.edu 37 18 56278998 56278998 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 56278998 56278998 G - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.32 p.P11fs 0.000 pfscan_Ig-like_dom pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 106 0 0 82 22 21.1538 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 88 0 0 66 16 19.5122 CDH19 0 genome.wustl.edu 37 18 64172527 64172527 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 64172527 64172527 A - DEL CDH19 ENST00000262150 human ensembl 74_37 -1 known frame_shift_del c.1841 p.L614fs 0.336 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 79 0 0 84 21 20 SOGA2 0 genome.wustl.edu 37 18 8784105 8784105 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 18 8784105 8784105 C - DEL SOGA2 ENST00000359865 human ensembl 74_37 +1 known frame_shift_del c.995 p.L334fs 0.000 pfam_SOGA pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 40 0 0 52 8 13.3333 ZNF791 0 genome.wustl.edu 37 19 12740044 12740044 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 12740044 12740044 A - DEL ZNF791 ENST00000343325 human ensembl 74_37 +1 known frame_shift_del c.1701 p.K569fs 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 ZNF791 HGNC ENSG00000173875 69 0 0 52 18 25.7143 CIB3 0 genome.wustl.edu 37 19 16275653 16275654 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 16275653 16275654 - C INS CIB3 ENST00000269878 human ensembl 74_37 -1 known frame_shift_ins c.418_417 p.L139fs 1.000:1.000 NULL pfscan_EF_hand_dom - no_errors CIB3 HGNC ENSG00000141977 76 0 0 61 12 16.4384 CERS1 0 genome.wustl.edu 37 19 18990098 18990100 + In_Frame_Del DEL GAA GAA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 18990098 18990100 GAA - DEL CERS1 ENST00000427170 human ensembl 74_37 -1 known in_frame_del c.852_850 p.F284in_frame_del 1.000:1.000:1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom - no_errors CERS1 HGNC ENSG00000223802 30 0 0 24 7 22.5806 NCAN 0 genome.wustl.edu 37 19 19338308 19338309 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 19338308 19338309 - C INS NCAN ENST00000252575 human ensembl 74_37 +1 known frame_shift_ins c.1879_1880 p.D629fs 0.035:0.058 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_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,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 39 0 0 22 5 18.5185 DOT1L 0 genome.wustl.edu 37 19 2191141 2191141 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 2191141 2191141 C - DEL DOT1L ENST00000398665 human ensembl 74_37 +1 known frame_shift_del c.395 p.E134fs 1.000 pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 61 0 0 50 15 23.0769 CLIP3 0 genome.wustl.edu 37 19 36508304 36508304 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 36508304 36508304 T - DEL CLIP3 ENST00000360535 human ensembl 74_37 -1 known frame_shift_del c.1500 p.V501fs 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 55 0 0 39 25 39.0625 ZNF793 0 genome.wustl.edu 37 19 38028415 38028415 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 38028415 38028415 T - DEL ZNF793 ENST00000445217 human ensembl 74_37 +1 known frame_shift_del c.855 p.C288fs 0.222 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 ZNF793 HGNC ENSG00000188227 56 0 0 40 18 31.0345 ZNF540 0 genome.wustl.edu 37 19 38102620 38102620 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 38102620 38102620 A - DEL ZNF540 ENST00000316433 human ensembl 74_37 +1 known frame_shift_del c.439 p.M149fs 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 ZNF540 HGNC ENSG00000171817 127 0 0 122 44 26.506 PSMC4 0 genome.wustl.edu 37 19 40480653 40480654 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 40480653 40480654 - C INS PSMC4 ENST00000157812 human ensembl 74_37 +1 known frame_shift_ins c.591_592 p.R199fs 0.585:0.996 superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 31 0 0 31 9 22.5 LTBP4 0 genome.wustl.edu 37 19 41132910 41132911 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 41132910 41132911 - C INS LTBP4 ENST00000308370 human ensembl 74_37 +1 known frame_shift_ins c.4214_4215 p.A1408fs 0.959:0.764 superfamily_TB_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 29 0 0 5 4 44.4444 CCDC97 0 genome.wustl.edu 37 19 41828552 41828554 + In_Frame_Del DEL GAG GAG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 41828552 41828554 GAG - DEL CCDC97 ENST00000269967 human ensembl 74_37 +1 known in_frame_del c.964_966 p.E324in_frame_del 1.000:1.000:1.000 pfam_DUF2052_coiled-coil pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 80 0 0 87 24 21.6216 FEM1A 0 genome.wustl.edu 37 19 4793748 4793749 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 4793748 4793749 - G INS FEM1A ENST00000269856 human ensembl 74_37 +1 known frame_shift_ins c.1882_1883 p.T630fs 1.000:1.000 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 FEM1A HGNC ENSG00000141965 26 0 0 33 4 10.8108 FAM83E 0 genome.wustl.edu 37 19 49107038 49107038 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 49107038 49107038 G - DEL FAM83E ENST00000263266 human ensembl 74_37 -1 known frame_shift_del c.889 p.Q297fs 0.001 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 14 0 0 14 8 36.3636 LILRA5 0 genome.wustl.edu 37 19 54822823 54822823 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 54822823 54822823 G - DEL LILRA5 ENST00000301219 human ensembl 74_37 -1 known frame_shift_del c.573 p.S192fs 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 51 0 0 36 14 28 BRSK1 0 genome.wustl.edu 37 19 55815036 55815036 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 55815036 55815036 C - DEL BRSK1 ENST00000590333 human ensembl 74_37 +1 known frame_shift_del c.1176 p.R395fs 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 BRSK1 HGNC ENSG00000160469 75 0 0 40 17 29.8246 SAFB2 0 genome.wustl.edu 37 19 5587282 5587282 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 25 0 0 20 8 28.5714 ZNF324 0 genome.wustl.edu 37 19 58980596 58980596 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 58980596 58980596 G - DEL ZNF324 ENST00000196482 human ensembl 74_37 +1 known frame_shift_del c.44 p.L17fs 1.000 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 ZNF324 HGNC ENSG00000083812 68 0 0 47 16 25.3968 MLLT1 0 genome.wustl.edu 37 19 6222272 6222274 + In_Frame_Del DEL AGG AGG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 6222272 6222274 AGG - DEL MLLT1 ENST00000252674 human ensembl 74_37 -1 known in_frame_del c.970_968 p.S323in_frame_del 0.643:0.503:0.456 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT1 HGNC ENSG00000130382 28 0 0 26 5 16.129 ZNF426 0 genome.wustl.edu 37 19 9639888 9639888 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 9639888 9639888 T - DEL ZNF426 ENST00000253115 human ensembl 74_37 -1 known frame_shift_del c.833 p.K278fs 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 123 0 0 121 52 30.0578 FBXL12 0 genome.wustl.edu 37 19 9922291 9922291 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 19 9922291 9922291 G - DEL FBXL12 ENST00000247977 human ensembl 74_37 -1 known frame_shift_del c.262 p.Q88fs 0.347 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 52 0 0 49 12 19.6721 NPHP1 0 genome.wustl.edu 37 2 110882862 110882862 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 110882862 110882862 T - DEL NPHP1 ENST00000417665 human ensembl 74_37 -1 novel frame_shift_del c.1797 p.K599fs 0.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 9 0 0 9 5 35.7143 MERTK 0 genome.wustl.edu 37 2 112704982 112704982 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 112704982 112704982 T - DEL MERTK ENST00000295408 human ensembl 74_37 +1 known frame_shift_del c.595 p.F199fs 1.000 pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 65 0 0 71 26 26.8041 MZT2B 0 genome.wustl.edu 37 2 130948157 130948157 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 130948157 130948157 G - DEL MZT2B ENST00000281871 human ensembl 74_37 +1 known frame_shift_del c.435 p.G147fs 1.000 NULL NULL - no_errors MZT2B HGNC ENSG00000152082 56 0 0 31 10 24.3902 LCT 0 genome.wustl.edu 37 2 136594278 136594279 + Frame_Shift_Del DEL AT AT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 136594278 136594279 AT - DEL LCT ENST00000264162 human ensembl 74_37 -1 known frame_shift_del c.462_461 p.Y154fs 0.999:1.000 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 38 0 0 40 13 24.5283 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 129 0 0 58 79 57.6642 UPP2 0 genome.wustl.edu 37 2 158980303 158980303 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 158980303 158980303 A - DEL UPP2 ENST00000409859 human ensembl 74_37 +1 known frame_shift_del c.878 p.K295fs 0.985 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 65 0 0 43 17 28.3333 ENSG00000238570 0 genome.wustl.edu 37 2 162415090 162415091 + RNA INS - - CA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 162415090 162415091 - CA INS ENSG00000238570 ENST00000458927 human ensembl 74_37 +1 novel rna NULL NULL 0.012:0.010 - - - no_errors snoU13 RFAM ENSG00000238570 21 0 0 6 6 50 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 25 0 0 35 8 18.6047 RBM45 0 genome.wustl.edu 37 2 178988919 178988920 + Frame_Shift_Ins INS - - AA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 178988919 178988920 - AA INS RBM45 ENST00000286070 human ensembl 74_37 +1 known frame_shift_ins c.1134_1135 p.A381fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 109 0 0 99 14 12.3894 TTN 0 genome.wustl.edu 37 2 179403334 179403334 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 179403334 179403334 A - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.91518 p.F30506fs 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 120 0 0 40 73 64.6018 TTN 0 genome.wustl.edu 37 2 179535860 179535860 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 179535860 179535860 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.31362 p.K10454fs 0.997 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 33 0 0 25 11 30.5556 CALCRL 0 genome.wustl.edu 37 2 188250275 188250275 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 188250275 188250275 A - DEL CALCRL ENST00000392370 human ensembl 74_37 -1 known frame_shift_del c.48 p.F16fs 0.049 prints_GPCR_2_CGRP1_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_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 26 0 0 12 9 42.8571 C2orf69 0 genome.wustl.edu 37 2 200790166 200790167 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 200790166 200790167 - A INS C2orf69 ENST00000319974 human ensembl 74_37 +1 known frame_shift_ins c.715_716 p.S241fs 1.000:0.965 pfam_UPF0565 pfam_UPF0565 - no_errors C2orf69 HGNC ENSG00000178074 72 0 0 77 30 28.0374 ORC2 0 genome.wustl.edu 37 2 201822217 201822217 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 201822217 201822217 T - DEL ORC2 ENST00000234296 human ensembl 74_37 -1 known frame_shift_del c.145 p.I49fs 0.998 NULL pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 52 0 0 48 15 23.8095 CASP8 0 genome.wustl.edu 37 2 202151290 202151290 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 202151290 202151290 A - DEL CASP8 ENST00000358485 human ensembl 74_37 +1 known frame_shift_del c.1590 p.K532fs 0.061 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 52 0 0 64 23 26.4368 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 71 0 0 94 28 22.9508 INO80D 0 genome.wustl.edu 37 2 206921336 206921337 + Frame_Shift_Del DEL TC TC - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 206921336 206921337 TC - DEL INO80D ENST00000403263 human ensembl 74_37 -1 known frame_shift_del c.550_549 p.E183fs 1.000:1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 23 0 0 19 4 17.3913 CRYGA 0 genome.wustl.edu 37 2 209025576 209025577 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 209025576 209025577 - C INS CRYGA ENST00000304502 human ensembl 74_37 -1 known frame_shift_ins c.477_476 p.A160fs 0.408:0.651 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 CRYGA HGNC ENSG00000168582 104 0 0 90 49 35.2518 ERBB4 0 genome.wustl.edu 37 2 212288880 212288881 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 212288880 212288881 - T INS ERBB4 ENST00000342788 human ensembl 74_37 -1 known frame_shift_ins c.2866_2865 p.C955fs 1.000:1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 109 0 0 78 25 24.2718 ERBB4 0 genome.wustl.edu 37 2 213403254 213403254 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 213403254 213403254 T - DEL ERBB4 ENST00000342788 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 43 0 0 44 15 25.4237 EML4 0 genome.wustl.edu 37 2 42488302 42488302 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 42488302 42488302 A - DEL EML4 ENST00000318522 human ensembl 74_37 +1 known frame_shift_del c.380 p.E130fs 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 73 0 0 58 23 28.3951 RTN4 0 genome.wustl.edu 37 2 55253746 55253746 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 55253746 55253746 T - DEL RTN4 ENST00000337526 human ensembl 74_37 -1 known frame_shift_del c.1489 p.I497fs 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 93 0 0 68 32 32 CCDC104 0 genome.wustl.edu 37 2 55756040 55756042 + In_Frame_Del DEL AGA AGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 55756040 55756042 AGA - DEL CCDC104 ENST00000339012 human ensembl 74_37 +1 known in_frame_del c.384_386 p.E129in_frame_del 0.998:1.000:1.000 pfam_ARF-like_2-bdp_dom pfam_ARF-like_2-bdp_dom - no_errors CCDC104 HGNC ENSG00000163001 53 0 0 54 11 16.9231 MCEE 0 genome.wustl.edu 37 2 71337211 71337212 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 71337211 71337212 - T INS MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_ins c.420_419 p.K141fs 1.000:1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 30 0 0 41 8 16.3265 ANKRD20A8P 0 genome.wustl.edu 37 2 95483039 95483039 + RNA DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 95483039 95483039 T - DEL ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.232 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 56 0 0 78 6 7.14286 ANKRD36C 0 genome.wustl.edu 37 2 96557435 96557436 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 96557435 96557436 - T INS ANKRD36C ENST00000456556 human ensembl 74_37 -1 known frame_shift_ins c.2835_2834 p.H946fs 0.002:0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 9 0 0 12 5 29.4118 LYG1 0 genome.wustl.edu 37 2 99900949 99900950 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 2 99900949 99900950 - C INS LYG1 ENST00000308528 human ensembl 74_37 -1 known frame_shift_ins c.492_491 p.A165fs 0.003:0.025 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC ENSG00000144214 56 0 0 54 4 6.89655 ISM1 0 genome.wustl.edu 37 20 13260483 13260483 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 13260483 13260483 G - DEL ISM1 ENST00000262487 human ensembl 74_37 +1 known frame_shift_del c.581 p.W196fs 0.979 NULL 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 54 0 0 34 7 17.0732 OTOR 0 genome.wustl.edu 37 20 16729576 16729577 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 16729576 16729577 - A INS OTOR ENST00000246081 human ensembl 74_37 +1 known frame_shift_ins c.180_181 p.G62fs 0.799:0.997 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors OTOR HGNC ENSG00000125879 70 0 0 53 12 18.4615 C20orf194 0 genome.wustl.edu 37 20 3321162 3321163 + Frame_Shift_Ins INS - - AA TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 3321162 3321163 - AA INS C20orf194 ENST00000252032 human ensembl 74_37 -1 known frame_shift_ins c.970_969 p.A323fs 1.000:0.997 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 62 0 0 58 8 12.1212 RALGAPB 0 genome.wustl.edu 37 20 37146233 37146233 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 37146233 37146233 C - DEL RALGAPB ENST00000262879 human ensembl 74_37 +1 known frame_shift_del c.1136 p.P381fs 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 103 0 0 92 21 18.5841 RBCK1 0 genome.wustl.edu 37 20 409650 409652 + In_Frame_Del DEL AGA AGA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 409650 409652 AGA - DEL RBCK1 ENST00000356286 human ensembl 74_37 +1 known in_frame_del c.1364_1366 p.K457in_frame_del 1.000:1.000:1.000 pfam_Znf_C6HC pfam_Znf_C6HC,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Znf_RING,pfscan_Znf_RanBP2,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors RBCK1 HGNC ENSG00000125826 26 0 0 18 6 25 SLC23A2 0 genome.wustl.edu 37 20 4843454 4843454 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 4843454 4843454 C - DEL SLC23A2 ENST00000338244 human ensembl 74_37 -1 known frame_shift_del c.1456 p.V486fs 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 86 0 0 68 31 31.3131 TSHZ2 0 genome.wustl.edu 37 20 51870992 51870992 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 51870992 51870992 C - DEL TSHZ2 ENST00000371497 human ensembl 74_37 +1 known frame_shift_del c.995 p.D334fs 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 129 0 0 123 9 6.81818 NTSR1 0 genome.wustl.edu 37 20 61341143 61341143 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 20 61341143 61341143 C - DEL NTSR1 ENST00000370501 human ensembl 74_37 +1 known frame_shift_del c.584 p.S196fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 46 0 0 52 7 11.8644 MRAP 0 genome.wustl.edu 37 21 33684272 33684272 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 33684272 33684272 C - DEL MRAP ENST00000303645 human ensembl 74_37 +1 known frame_shift_del c.484 p.P163fs 0.000 NULL NULL - no_errors MRAP HGNC ENSG00000170262 53 0 0 56 8 12.5 RCAN1 0 genome.wustl.edu 37 21 35890428 35890429 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 35890428 35890429 - T INS RCAN1 ENST00000313806 human ensembl 74_37 -1 known frame_shift_ins c.713_712 p.I238fs 1.000:1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN1 HGNC ENSG00000159200 116 0 0 103 29 21.9697 TTC3 0 genome.wustl.edu 37 21 38555143 38555144 + Frame_Shift_Del DEL AA AA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 38555143 38555144 AA - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.4685_4686 p.K1564fs 1.000:1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 35 0 0 26 9 25.7143 RIPK4 0 genome.wustl.edu 37 21 43165934 43165935 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 43165934 43165935 - G INS RIPK4 ENST00000352483 human ensembl 74_37 -1 known frame_shift_ins c.1065_1064 p.E356fs 0.000:0.000 NULL pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 78 0 0 76 28 26.9231 PTTG1IP 0 genome.wustl.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 21 46276194 46276196 GCA - DEL PTTG1IP ENST00000330938 human ensembl 74_37 -1 known in_frame_del c.363_361 p.C121in_frame_del 1.000:1.000:1.000 NULL smart_Plexin-like_fold - no_errors PTTG1IP HGNC ENSG00000183255 37 0 0 33 5 13.1579 SERPIND1 0 genome.wustl.edu 37 22 21134077 21134078 + Frame_Shift_Ins INS - - CCTGC TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 21134077 21134078 - CCTGC INS SERPIND1 ENST00000215727 human ensembl 74_37 +1 known frame_shift_ins c.477_478 p.T159fs 0.763:0.833 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPIND1 HGNC ENSG00000099937 79 0 0 87 22 20.1835 SERPIND1 0 genome.wustl.edu 37 22 21134081 21134082 + Frame_Shift_Ins INS - - CGCTG TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 21134081 21134082 - CGCTG INS SERPIND1 ENST00000215727 human ensembl 74_37 +1 known frame_shift_ins c.481_482 p.M162fs 1.000:1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPIND1 HGNC ENSG00000099937 81 0 0 99 14 12.3894 CARD10 0 genome.wustl.edu 37 22 37893150 37893150 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 37893150 37893150 G - DEL CARD10 ENST00000251973 human ensembl 74_37 -1 known frame_shift_del c.1823 p.P608fs 0.951 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 59 0 0 50 8 13.7931 PDGFB 0 genome.wustl.edu 37 22 39621797 39621797 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 39621797 39621797 G - DEL PDGFB ENST00000331163 human ensembl 74_37 -1 known frame_shift_del c.657 p.K220fs 0.996 NULL pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 38 0 0 29 12 29.2683 ARFGAP3 0 genome.wustl.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 43213780 43213780 T - DEL ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known frame_shift_del c.896 p.N299fs 0.002 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 148 0 0 135 30 18.1818 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 38 0 0 18 5 21.7391 ZBED4 0 genome.wustl.edu 37 22 50277678 50277679 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 50277678 50277679 - T INS ZBED4 ENST00000216268 human ensembl 74_37 +1 known frame_shift_ins c.368_369 p.I126fs 1.000:0.944 pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 79 0 0 87 17 16.3462 MOV10L1 0 genome.wustl.edu 37 22 50559005 50559005 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 22 50559005 50559005 A - DEL MOV10L1 ENST00000262794 human ensembl 74_37 +1 known frame_shift_del c.1529 p.I512fs 0.052 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 119 0 0 84 30 26.3158 KIAA2018 0 genome.wustl.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 113380090 113380090 T - DEL KIAA2018 ENST00000316407 human ensembl 74_37 -1 known frame_shift_del c.439 p.I147fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 78 0 0 77 20 20.6186 GOLGB1 0 genome.wustl.edu 37 3 121417284 121417284 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 121417284 121417284 T - DEL GOLGB1 ENST00000340645 human ensembl 74_37 -1 known frame_shift_del c.2071 p.S691fs 0.943 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 69 0 0 72 5 6.49351 PLXNA1 0 genome.wustl.edu 37 3 126735391 126735391 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 50 0 0 37 15 28.8462 TOPBP1 0 genome.wustl.edu 37 3 133329880 133329880 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 133329880 133329880 T - DEL TOPBP1 ENST00000260810 human ensembl 74_37 -1 known frame_shift_del c.4141 p.I1381fs 0.605 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 105 0 0 103 27 20.7692 C3orf20 0 genome.wustl.edu 37 3 14802988 14802989 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 14802988 14802989 - G INS C3orf20 ENST00000253697 human ensembl 74_37 +1 known frame_shift_ins c.2361_2362 p.K789fs 0.991:0.991 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 62 0 0 56 18 24.3243 MED12L 0 genome.wustl.edu 37 3 150845633 150845633 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 150845633 150845633 G - DEL MED12L ENST00000474524 human ensembl 74_37 +1 known frame_shift_del c.418 p.E140fs 1.000 pfam_Mediator_Med12 pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 47 0 0 51 18 26.087 SERPINI1 0 genome.wustl.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 167507159 167507159 A - DEL SERPINI1 ENST00000295777 human ensembl 74_37 +1 known frame_shift_del c.243 p.N83fs 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 118 0 0 124 28 18.4211 GPR160 0 genome.wustl.edu 37 3 169802469 169802469 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 169802469 169802469 A - DEL GPR160 ENST00000355897 human ensembl 74_37 +1 known frame_shift_del c.709 p.I239fs 0.030 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 48 0 0 36 21 36.8421 FXR1 0 genome.wustl.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 180666228 180666228 A - DEL FXR1 ENST00000357559 human ensembl 74_37 +1 known frame_shift_del c.364 p.N124fs 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 50 0 0 51 16 23.8806 CPN2 0 genome.wustl.edu 37 3 194062616 194062617 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 194062616 194062617 - A INS CPN2 ENST00000323830 human ensembl 74_37 -1 known frame_shift_ins c.816_815 p.L272fs 0.991:0.991 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 51 0 0 43 8 15.6863 LINC00691 0 genome.wustl.edu 37 3 24138195 24138196 + RNA INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 24138195 24138196 - T INS LINC00691 ENST00000436123 human ensembl 74_37 -1 known rna NULL NULL 0.509:0.516 - - - no_errors LINC00691 HGNC ENSG00000224074 8 0 0 5 3 37.5 TOP2B 0 genome.wustl.edu 37 3 25670433 25670433 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 25670433 25670433 T - DEL TOP2B ENST00000264331 human ensembl 74_37 -1 known frame_shift_del c.1811 p.N604fs 1.000 superfamily_Topo_IIA_like_dom,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 29 0 0 13 13 50 SCN11A 0 genome.wustl.edu 37 3 38949440 38949441 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 38949440 38949441 - T INS SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_ins c.1473_1472 p.P492fs 0.422:0.352 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 73 0 0 55 13 19.1176 SCN11A 0 genome.wustl.edu 37 3 38962726 38962726 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 38962726 38962726 C - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.733 p.A245fs 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 140 0 0 135 27 16.6667 ULK4 0 genome.wustl.edu 37 3 41860985 41860985 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 41860985 41860985 T - DEL ULK4 ENST00000301831 human ensembl 74_37 -1 known frame_shift_del c.1778 p.K593fs 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 59 0 0 82 14 14.5833 KIF15 0 genome.wustl.edu 37 3 44879832 44879832 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 44879832 44879832 A - DEL KIF15 ENST00000326047 human ensembl 74_37 +1 known frame_shift_del c.3237 p.K1081fs 0.023 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 40 0 0 38 11 22.449 KIF9 0 genome.wustl.edu 37 3 47315092 47315092 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 47315092 47315092 C - DEL KIF9 ENST00000265529 human ensembl 74_37 -1 known frame_shift_del c.316 p.A106fs 0.868 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 42 0 0 53 11 17.1875 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 40 0 0 26 12 31.5789 GRM2 0 genome.wustl.edu 37 3 51746928 51746928 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 51746928 51746928 G - DEL GRM2 ENST00000395052 human ensembl 74_37 +1 known frame_shift_del c.890 p.A299fs 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 38 0 0 36 18 33.3333 GLT8D1 0 genome.wustl.edu 37 3 52731828 52731828 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 52731828 52731828 C - DEL GLT8D1 ENST00000266014 human ensembl 74_37 -1 known frame_shift_del c.238 p.A80fs 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 90 0 0 101 11 9.82143 ITIH3 0 genome.wustl.edu 37 3 52829637 52829637 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 52829637 52829637 G - DEL ITIH3 ENST00000449956 human ensembl 74_37 +1 known frame_shift_del c.112 p.V39fs 0.993 smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 13 0 0 22 3 12 IL17RB 0 genome.wustl.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 53889347 53889347 A - DEL IL17RB ENST00000288167 human ensembl 74_37 +1 known frame_shift_del c.508 p.K172fs 0.036 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 22 0 0 38 10 20.8333 ATXN7 0 genome.wustl.edu 37 3 63981832 63981832 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 63981832 63981832 C - DEL ATXN7 ENST00000398590 human ensembl 74_37 +1 known frame_shift_del c.2334 p.T781fs 0.705 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 48 0 0 49 15 23.4375 SLC25A26 0 genome.wustl.edu 37 3 66293635 66293635 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 66293635 66293635 T - DEL SLC25A26 ENST00000354883 human ensembl 74_37 +1 known frame_shift_del c.199 p.F68fs 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A26 HGNC ENSG00000144741 85 0 0 50 22 30.5556 ROBO2 0 genome.wustl.edu 37 3 77657038 77657038 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 77657038 77657038 C - DEL ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_del c.3226 p.P1078fs 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 34 0 0 44 6 12 GBE1 0 genome.wustl.edu 37 3 81548302 81548302 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 81548302 81548302 A - DEL GBE1 ENST00000429644 human ensembl 74_37 -1 known frame_shift_del c.2011 p.S671fs 0.985 pfam_A-amylase_b_C pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 30 0 0 30 10 25 VGLL3 0 genome.wustl.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 87027857 87027859 CTC - DEL VGLL3 ENST00000398399 human ensembl 74_37 -1 known in_frame_del c.222_220 p.E74in_frame_del 1.000:1.000:1.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 43 0 0 47 10 17.5439 FILIP1L 0 genome.wustl.edu 37 3 99568990 99568990 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 3 99568990 99568990 T - DEL FILIP1L ENST00000354552 human ensembl 74_37 -1 known frame_shift_del c.1530 p.K510fs 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 39 0 0 36 12 25 CXXC4 0 genome.wustl.edu 37 4 105411999 105412000 + Frame_Shift_Del DEL CA CA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 105411999 105412000 CA - DEL CXXC4 ENST00000394767 human ensembl 74_37 -1 known frame_shift_del c.961_960 p.C320fs 1.000:1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC4 HGNC ENSG00000168772 111 0 0 119 27 18.4932 TBCK 0 genome.wustl.edu 37 4 107156505 107156505 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 107156505 107156505 T - DEL TBCK ENST00000273980 human ensembl 74_37 -1 known frame_shift_del c.1370 p.N457fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 29 0 0 23 8 25.8065 IL21 0 genome.wustl.edu 37 4 123534050 123534051 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 123534050 123534051 - T INS IL21 ENST00000264497 human ensembl 74_37 -1 known frame_shift_ins c.394_393 p.P131fs 0.982:0.985 pfam_IL-15/IL-21_fam pfam_IL-15/IL-21_fam - no_errors IL21 HGNC ENSG00000138684 35 0 0 46 18 28.125 SLC34A2 0 genome.wustl.edu 37 4 25665878 25665878 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 25665878 25665878 T - DEL SLC34A2 ENST00000382051 human ensembl 74_37 +1 known frame_shift_del c.305 p.L103fs 0.194 NULL pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 91 0 0 94 39 29.3233 HGFAC 0 genome.wustl.edu 37 4 3450973 3450973 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 3450973 3450973 G - DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known frame_shift_del c.1795 p.L602fs 0.999 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 64 0 0 55 19 25.6757 KCTD8 0 genome.wustl.edu 37 4 44177044 44177044 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 44177044 44177044 T - DEL KCTD8 ENST00000360029 human ensembl 74_37 -1 known frame_shift_del c.1185 p.A396fs 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 128 0 0 136 33 19.5266 SDAD1 0 genome.wustl.edu 37 4 76892547 76892547 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 76892547 76892547 T - DEL SDAD1 ENST00000356260 human ensembl 74_37 -1 known frame_shift_del c.776 p.N259fs 1.000 superfamily_ARM-type_fold pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 149 0 0 92 33 26.4 FRAS1 0 genome.wustl.edu 37 4 79362354 79362354 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 4 79362354 79362354 T - DEL FRAS1 ENST00000264895 human ensembl 74_37 +1 known frame_shift_del c.5568 p.F1858fs 1.000 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 34 0 0 49 11 18.3333 TSSK1B 0 genome.wustl.edu 37 5 112769462 112769462 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 112769462 112769462 G - DEL TSSK1B ENST00000390666 human ensembl 74_37 -1 known frame_shift_del c.1075 p.Q359fs 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_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 15 0 0 19 5 20.8333 KCNN2 0 genome.wustl.edu 37 5 113822813 113822813 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 113822813 113822813 A - DEL KCNN2 ENST00000264773 human ensembl 74_37 +1 known frame_shift_del c.1321 p.K442fs 1.000 pfam_CaM-bd_dom,superfamily_CaM-bd_dom 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 75 0 0 75 25 25 PHAX 0 genome.wustl.edu 37 5 125939712 125939712 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 125939712 125939712 A - DEL PHAX ENST00000297540 human ensembl 74_37 +1 known frame_shift_del c.547 p.M185fs 1.000 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 66 0 0 60 31 34.0659 SEPT8 0 genome.wustl.edu 37 5 132096640 132096642 + In_Frame_Del DEL CTC CTC - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 132096640 132096642 CTC - DEL SEPT8 ENST00000378719 human ensembl 74_37 -1 known in_frame_del c.1140_1138 p.E380in_frame_del 1.000:1.000:1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT8 HGNC ENSG00000164402 112 0 0 105 26 19.8473 ANKHD1 0 genome.wustl.edu 37 5 139892956 139892957 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 139892956 139892957 - A INS ANKHD1 ENST00000297183 human ensembl 74_37 +1 known frame_shift_ins c.4209_4210 p.C1405fs 1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 51 0 0 45 19 29.6875 LARS 0 genome.wustl.edu 37 5 145508683 145508683 + Splice_Site DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 145508683 145508683 T - DEL LARS ENST00000394434 human ensembl 74_37 -1 known splice_site_del c.2629-2 e26-2 1.000 - - - no_errors LARS HGNC ENSG00000133706 76 0 0 96 15 13.5135 FAM193B 0 genome.wustl.edu 37 5 176966140 176966140 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 176966140 176966140 G - DEL FAM193B ENST00000514747 human ensembl 74_37 -1 novel frame_shift_del c.219 p.A74fs 0.001 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 8 0 0 4 5 55.5556 CNOT6 0 genome.wustl.edu 37 5 179994114 179994114 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 179994114 179994114 T - DEL CNOT6 ENST00000261951 human ensembl 74_37 +1 known frame_shift_del c.744 p.L251fs 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 58 0 0 89 24 21.2389 CDH10 0 genome.wustl.edu 37 5 24491905 24491906 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 24491905 24491906 - T INS CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_ins c.1656_1655 p.N552fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 25 0 0 25 6 19.3548 CDH6 0 genome.wustl.edu 37 5 31294199 31294199 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 31294199 31294199 A - DEL CDH6 ENST00000265071 human ensembl 74_37 +1 known frame_shift_del c.359 p.K121fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 112 0 0 115 41 26.2821 ZFR 0 genome.wustl.edu 37 5 32404160 32404161 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 32404160 32404161 - T INS ZFR ENST00000265069 human ensembl 74_37 -1 known frame_shift_ins c.1075_1074 p.E358fs 1.000:1.000 smart_Znf_U1 pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 105 0 0 101 27 21.0938 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 28 0 0 23 11 32.3529 FYB 0 genome.wustl.edu 37 5 39124356 39124357 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 39124356 39124357 - A INS FYB ENST00000540520 human ensembl 74_37 -1 known frame_shift_ins c.2100_2099 p.L700fs 0.995:0.975 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 31 0 0 27 7 20.5882 C6 0 genome.wustl.edu 37 5 41181535 41181535 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 41181535 41181535 A - DEL C6 ENST00000263413 human ensembl 74_37 -1 known frame_shift_del c.853 p.Y285fs 0.015 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 64 0 0 64 28 30.4348 TNPO1 0 genome.wustl.edu 37 5 72173171 72173174 + Splice_Site DEL TAAG TAAG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 TAAG TAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 72173171 72173174 TAAG - DEL TNPO1 ENST00000337273 human ensembl 74_37 +1 known splice_site_del c.920+4_920+1 e10-1 0.973:0.997:1.000:1.000 - - - no_errors TNPO1 HGNC ENSG00000083312 55 0 0 79 16 16.8421 CMYA5 0 genome.wustl.edu 37 5 79030050 79030050 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 79030050 79030050 A - DEL CMYA5 ENST00000446378 human ensembl 74_37 +1 known frame_shift_del c.5462 p.K1823fs 0.031 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 74 0 0 76 28 26.9231 MSH3 0 genome.wustl.edu 37 5 79970915 79970916 + Frame_Shift_Del DEL AA AA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 79970915 79970916 AA - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141_1142 p.K383fs 0.982:0.892 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 0 114 36 24 RASA1 0 genome.wustl.edu 37 5 86669978 86669978 + Splice_Site DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 86669978 86669978 A - DEL RASA1 ENST00000274376 human ensembl 74_37 +1 known splice_site_del c.1777-2 e14-2 1.000 - - - no_errors RASA1 HGNC ENSG00000145715 9 0 0 6 3 33.3333 RASA1 0 genome.wustl.edu 37 5 86675571 86675571 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 5 86675571 86675571 A - DEL RASA1 ENST00000274376 human ensembl 74_37 +1 known frame_shift_del c.2507 p.N838fs 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 50 0 0 51 18 26.087 CETN3 0 genome.wustl.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 84 0 0 61 18 22.7848 ARMC2 0 genome.wustl.edu 37 6 109294600 109294600 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 109294600 109294600 A - DEL ARMC2 ENST00000392644 human ensembl 74_37 +1 known frame_shift_del c.2487 p.N831fs 0.999 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 94 0 0 92 48 34.2857 ARHGAP18 0 genome.wustl.edu 37 6 129959603 129959603 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 129959603 129959603 T - DEL ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known frame_shift_del c.488 p.N163fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 134 0 0 131 37 22.0238 NOL7 0 genome.wustl.edu 37 6 13620991 13620992 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 13620991 13620992 - A INS NOL7 ENST00000451315 human ensembl 74_37 +1 known frame_shift_ins c.706_707 p.Q239fs 0.542:0.993 NULL pfam_NUC129 - no_errors NOL7 HGNC ENSG00000225921 36 0 0 30 11 26.8293 CCDC28A 0 genome.wustl.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 139097330 139097330 A - DEL CCDC28A ENST00000332797 human ensembl 74_37 +1 known frame_shift_del c.343 p.N117fs 1.000 NULL NULL - no_errors CCDC28A HGNC ENSG00000024862 94 0 0 73 27 27 SHPRH 0 genome.wustl.edu 37 6 146275964 146275964 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 146275964 146275964 T - DEL SHPRH ENST00000367503 human ensembl 74_37 -1 known frame_shift_del c.495 p.E166fs 0.391 NULL pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 83 0 0 82 28 25.4545 JARID2 0 genome.wustl.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 15496722 15496722 G - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.1266 p.R425fs 0.963 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 26 0 0 19 5 20.8333 MAP3K4 0 genome.wustl.edu 37 6 161469776 161469776 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 161469776 161469776 A - DEL MAP3K4 ENST00000392142 human ensembl 74_37 +1 known frame_shift_del c.472 p.N160fs 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 MAP3K4 HGNC ENSG00000085511 139 0 0 140 44 23.913 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 126 0 0 134 25 15.7233 KIAA0319 0 genome.wustl.edu 37 6 24596507 24596508 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 24596507 24596508 - C INS KIAA0319 ENST00000378214 human ensembl 74_37 -1 known frame_shift_ins c.395_394 p.D132fs 0.661:0.808 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 82 0 0 50 16 24.2424 OR12D3 0 genome.wustl.edu 37 6 29342750 29342751 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 29342750 29342751 - A INS OR12D3 ENST00000396806 human ensembl 74_37 -1 known frame_shift_ins c.315_314 p.L105fs 0.723:0.779 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 OR12D3 HGNC ENSG00000112462 85 0 0 74 18 19.5652 MDC1 0 genome.wustl.edu 37 6 30675170 30675172 + In_Frame_Del DEL CTT CTT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 30675170 30675172 CTT - DEL MDC1 ENST00000376406 human ensembl 74_37 -1 known in_frame_del c.3075_3073 p.K1025in_frame_del 0.094:0.113:0.130 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 103 0 0 66 25 27.4725 UHRF1BP1 0 genome.wustl.edu 37 6 34839369 34839369 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 34839369 34839369 C - DEL UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known frame_shift_del c.3990 p.I1333fs 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 89 0 0 87 25 22.3214 PTCRA 0 genome.wustl.edu 37 6 42890866 42890866 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 42890866 42890866 C - DEL PTCRA ENST00000304672 human ensembl 74_37 +1 known frame_shift_del c.160 p.P55fs 0.091 NULL NULL - no_errors PTCRA HGNC ENSG00000171611 100 0 0 72 23 24.2105 PLA2G7 0 genome.wustl.edu 37 6 46677134 46677134 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 46677134 46677134 T - DEL PLA2G7 ENST00000274793 human ensembl 74_37 -1 known frame_shift_del c.799 p.I267fs 0.996 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote - no_errors PLA2G7 HGNC ENSG00000146070 64 0 0 85 21 19.8113 BAI3 0 genome.wustl.edu 37 6 69640508 69640508 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 69640508 69640508 A - DEL BAI3 ENST00000370598 human ensembl 74_37 +1 known frame_shift_del c.815 p.R274fs 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 43 0 0 47 10 17.5439 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 44 0 0 50 17 25.3731 CNR1 0 genome.wustl.edu 37 6 88854592 88854593 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 88854592 88854593 - T INS CNR1 ENST00000369499 human ensembl 74_37 -1 known frame_shift_ins c.402_401 p.N134fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 31 0 0 26 7 21.2121 MDN1 0 genome.wustl.edu 37 6 90415853 90415853 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 90415853 90415853 A - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.8073 p.F2691fs 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 51 0 0 58 17 22.6667 USP45 0 genome.wustl.edu 37 6 99893879 99893879 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 6 99893879 99893879 A - DEL USP45 ENST00000327681 human ensembl 74_37 -1 known frame_shift_del c.1769 p.L590fs 0.114 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 42 0 0 33 9 21.4286 MEPCE 0 genome.wustl.edu 37 7 100028068 100028068 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 100028068 100028068 G - DEL MEPCE ENST00000310512 human ensembl 74_37 +1 known frame_shift_del c.427 p.G145fs 0.496 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 22 0 0 12 10 45.4545 SRRT 0 genome.wustl.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 100479332 100479332 G - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_del c.304 p.G104fs 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 49 0 0 30 9 23.0769 CTTNBP2 0 genome.wustl.edu 37 7 117431604 117431604 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 117431604 117431604 T - DEL CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known frame_shift_del c.1646 p.K549fs 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 103 0 0 96 33 25.5814 NUP205 0 genome.wustl.edu 37 7 135301910 135301911 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 135301910 135301911 - T INS NUP205 ENST00000285968 human ensembl 74_37 +1 known frame_shift_ins c.3605_3606 p.D1205fs 1.000:1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 64 0 0 82 28 25.4545 ZNF767 0 genome.wustl.edu 37 7 149318362 149318362 + RNA DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 149318362 149318362 C - DEL ZNF767 ENST00000463567 human ensembl 74_37 -1 known rna NULL NULL 0.523 - - - no_errors ZNF767 HGNC ENSG00000133624 50 0 0 50 21 29.5775 KMT2C 0 genome.wustl.edu 37 7 151878069 151878070 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 151878069 151878070 - G INS KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_ins c.6876_6875 p.S2293fs 0.046:0.216 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 66 0 0 73 19 20.6522 KMT2C 0 genome.wustl.edu 37 7 151949783 151949784 + Frame_Shift_Del DEL TA TA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 151949783 151949784 TA - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.1317_1316 p.I439fs 0.999:1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_DHHC_palmitoyltrfase 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 25 0 0 27 8 22.8571 RAPGEF5 0 genome.wustl.edu 37 7 22197474 22197474 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 22197474 22197474 T - DEL RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known frame_shift_del c.1097 p.K366fs 1.000 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 41 0 0 65 17 20.7317 C7orf31 0 genome.wustl.edu 37 7 25200833 25200833 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 25200833 25200833 T - DEL C7orf31 ENST00000283905 human ensembl 74_37 -1 known frame_shift_del c.358 p.S120fs 1.000 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 17 0 0 13 7 35 CARD11 0 genome.wustl.edu 37 7 2968322 2968323 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 2968322 2968323 - G INS CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_ins c.1664_1663 p.R555fs 0.395:0.080 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 49 0 0 51 7 12.069 BBS9 0 genome.wustl.edu 37 7 33644571 33644572 + Frame_Shift_Del DEL AG AG - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 33644571 33644572 AG - DEL BBS9 ENST00000242067 human ensembl 74_37 +1 known frame_shift_del c.2616_2617 p.E873fs 0.001:0.426 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 43 0 0 63 7 10 GLI3 0 genome.wustl.edu 37 7 42064869 42064869 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 42064869 42064869 C - DEL GLI3 ENST00000395925 human ensembl 74_37 -1 known frame_shift_del c.1350 p.Q451fs 0.504 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 51 0 0 42 7 14.2857 OGDH 0 genome.wustl.edu 37 7 44747227 44747228 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 44747227 44747228 - C INS OGDH ENST00000222673 human ensembl 74_37 +1 known frame_shift_ins c.2843_2844 p.N950fs 1.000:1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 157 0 0 131 42 24.2775 TNRC18 0 genome.wustl.edu 37 7 5416526 5416526 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 7 5416526 5416526 G - DEL TNRC18 ENST00000399537 human ensembl 74_37 -1 known frame_shift_del c.2560 p.Q854fs 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 19 0 0 25 5 16.6667 ANKIB1 0 genome.wustl.edu 37 7 91936914 91936914 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 56 0 0 48 34 41.4634 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 100990178 100990178 T - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3486 p.K1162fs 0.010 NULL 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 52 0 0 107 18 14.4 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 69 0 0 143 36 20.1117 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 29 0 0 53 25 32.0513 RIMS2 0 genome.wustl.edu 37 8 104927779 104927779 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 104927779 104927779 A - DEL RIMS2 ENST00000406091 human ensembl 74_37 +1 known frame_shift_del c.1869 p.G626fs 0.009 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 71 0 0 86 19 18.0952 DCSTAMP 0 genome.wustl.edu 37 8 105367351 105367351 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 105367351 105367351 A - DEL DCSTAMP ENST00000297581 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.229 superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 109 0 0 195 25 11.3636 PKHD1L1 0 genome.wustl.edu 37 8 110476637 110476637 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 110476637 110476637 T - DEL PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known frame_shift_del c.7576 p.F2527fs 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 30 0 0 87 15 14.7059 CASC11 0 genome.wustl.edu 37 8 128700459 128700460 + RNA INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 128700459 128700460 - A INS CASC11 ENST00000502463 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CASC11 HGNC ENSG00000249375 8 0 0 4 3 42.8571 AGO2 0 genome.wustl.edu 37 8 141554344 141554345 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 141554344 141554345 - G INS AGO2 ENST00000220592 human ensembl 74_37 -1 known frame_shift_ins c.1807_1806 p.A602fs 0.998:0.203 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 AGO2 HGNC ENSG00000123908 111 0 0 132 16 10.8108 PLEC 0 genome.wustl.edu 37 8 145049407 145049407 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 145049407 145049407 C - DEL PLEC ENST00000436759 human ensembl 74_37 -1 known frame_shift_del c.131 p.G44fs 0.051 NULL pfam_Plectin_repeat,pfam_CH-domain,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 35 0 0 66 5 7.04225 MTUS1 0 genome.wustl.edu 37 8 17513478 17513479 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 17513478 17513479 - T INS MTUS1 ENST00000262102 human ensembl 74_37 -1 known frame_shift_ins c.3002_3001 p.T1001fs 0.736:0.048 superfamily_Ferritin-like_SF superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 95 0 0 199 25 11.1607 BMP1 0 genome.wustl.edu 37 8 22054259 22054260 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 22054259 22054260 - C INS BMP1 ENST00000306385 human ensembl 74_37 +1 known frame_shift_ins c.1832_1833 p.N614fs 1.000:1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 28 0 0 60 7 10.4478 SDAD1P1 0 genome.wustl.edu 37 8 26236978 26236978 + RNA DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 26236978 26236978 C - DEL SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.901 - - - no_errors SDAD1P1 HGNC ENSG00000228451 32 0 0 72 14 16.2791 ZNF395 0 genome.wustl.edu 37 8 28210809 28210809 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 28210809 28210809 G - DEL ZNF395 ENST00000344423 human ensembl 74_37 -1 known frame_shift_del c.700 p.H234fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 22 0 0 30 4 11.7647 FUT10 0 genome.wustl.edu 37 8 33246853 33246853 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 33246853 33246853 A - DEL FUT10 ENST00000327671 human ensembl 74_37 -1 known frame_shift_del c.840 p.F280fs 0.997 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 72 0 0 110 16 12.6984 ANK1 0 genome.wustl.edu 37 8 41522393 41522394 + Frame_Shift_Ins INS - - C TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 41522393 41522394 - C INS ANK1 ENST00000314214 human ensembl 74_37 -1 known frame_shift_ins c.149_148 p.E50fs 1.000:1.000 NULL NULL - no_errors ANK1 HGNC ENSG00000029534 27 0 0 54 9 14.2857 ST18 0 genome.wustl.edu 37 8 53055565 53055565 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 53055565 53055565 T - DEL ST18 ENST00000276480 human ensembl 74_37 -1 known frame_shift_del c.2093 p.K698fs 0.999 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 76 0 0 135 26 16.1491 RP1 0 genome.wustl.edu 37 8 55538813 55538813 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 55538813 55538813 A - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.2371 p.R793fs 0.177 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 73 0 0 124 18 12.6761 CSPP1 0 genome.wustl.edu 37 8 68076631 68076631 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 79 0 0 100 24 19.3548 PREX2 0 genome.wustl.edu 37 8 68992721 68992721 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 57 0 0 106 14 11.6667 STAU2 0 genome.wustl.edu 37 8 74507470 74507471 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 74507470 74507471 - T INS STAU2 ENST00000524300 human ensembl 74_37 -1 known frame_shift_ins c.1092_1091 p.N364fs 1.000:1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 54 0 0 100 20 16.6667 GDAP1 0 genome.wustl.edu 37 8 75263642 75263642 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 75263642 75263642 A - DEL GDAP1 ENST00000220822 human ensembl 74_37 +1 known frame_shift_del c.251 p.N85fs 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 199 0 0 423 60 12.4224 ZFHX4 0 genome.wustl.edu 37 8 77617337 77617337 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 77617337 77617337 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.1014 p.K340fs 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 112 0 0 144 17 10.559 TPD52 0 genome.wustl.edu 37 8 80915402 80915402 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 80915402 80915402 T - DEL TPD52 ENST00000537855 human ensembl 74_37 -1 known frame_shift_del c.569 p.N190fs 0.184 pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold pfam_TPD52,pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold - no_errors TPD52 HGNC ENSG00000076554 45 0 0 87 14 13.8614 E2F5 0 genome.wustl.edu 37 8 86114461 86114461 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 86114461 86114461 A - DEL E2F5 ENST00000256117 human ensembl 74_37 +1 known frame_shift_del c.314 p.K107fs 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 42 0 0 65 6 8.4507 NBN 0 genome.wustl.edu 37 8 90967512 90967512 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 90967512 90967512 T - DEL NBN ENST00000265433 human ensembl 74_37 -1 known frame_shift_del c.1396 p.R466fs 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 81 0 0 230 14 5.7377 SLC26A7 0 genome.wustl.edu 37 8 92406218 92406218 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 63 0 0 118 21 15.1079 ESRP1 0 genome.wustl.edu 37 8 95683841 95683842 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 8 95683841 95683842 - G INS ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_ins c.1394_1395 p.E467fs 1.000:1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 40 0 0 111 18 13.9535 PALM2-AKAP2 0 genome.wustl.edu 37 9 112898790 112898790 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 112898790 112898790 C - DEL PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known frame_shift_del c.966 p.P324fs 0.767 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 59 0 0 55 10 15.3846 TYRP1 0 genome.wustl.edu 37 9 12702411 12702414 + Frame_Shift_Del DEL ACAA ACAA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 12702411 12702414 ACAA - DEL TYRP1 ENST00000388918 human ensembl 74_37 +1 known frame_shift_del c.1054_1057 p.N353fs 1.000:1.000:0.997:0.999 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 56 0 0 55 19 25.6757 ARPC5L 0 genome.wustl.edu 37 9 127639218 127639218 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 127639218 127639218 A - DEL ARPC5L ENST00000259477 human ensembl 74_37 +1 known frame_shift_del c.461 p.*154fs 1.000 NULL pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc - no_errors ARPC5L HGNC ENSG00000136950 31 0 0 45 8 15.0943 GOLGA1 0 genome.wustl.edu 37 9 127684160 127684160 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 127684160 127684160 T - DEL GOLGA1 ENST00000373555 human ensembl 74_37 -1 known frame_shift_del c.573 p.E192fs 1.000 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 96 0 0 132 23 14.8387 GOLGA2 0 genome.wustl.edu 37 9 131019390 131019390 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 131019390 131019390 A - DEL GOLGA2 ENST00000421699 human ensembl 74_37 -1 known frame_shift_del c.2965 p.Y989fs 1.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 148 0 0 152 40 20.8333 FUBP3 0 genome.wustl.edu 37 9 133506013 133506014 + Splice_Site INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 133506013 133506014 - G INS FUBP3 ENST00000319725 human ensembl 74_37 +1 known splice_site_ins c.1118-2_1118-1 e13-1 1.000:1.000 - - - no_errors FUBP3 HGNC ENSG00000107164 71 0 0 64 16 20 PRRC2B 0 genome.wustl.edu 37 9 134371131 134371133 + In_Frame_Del DEL AAC AAC - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 134371131 134371133 AAC - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known in_frame_del c.6560_6562 p.Q2188in_frame_del 0.930:0.639:0.720 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 36 0 0 34 10 22.7273 SETX 0 genome.wustl.edu 37 9 135203509 135203509 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 135203509 135203509 T - DEL SETX ENST00000372169 human ensembl 74_37 -1 known frame_shift_del c.3476 p.K1159fs 0.001 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 79 0 0 100 22 18.0328 PMPCA 0 genome.wustl.edu 37 9 139311652 139311652 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 139311652 139311652 G - DEL PMPCA ENST00000371717 human ensembl 74_37 +1 known frame_shift_del c.883 p.I297fs 1.000 pfam_Peptidase_M16_C pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 23 0 0 46 8 14.8148 TPRN 0 genome.wustl.edu 37 9 140087024 140087025 + In_Frame_Ins INS - - TCC TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 140087024 140087025 - TCC INS TPRN ENST00000409012 human ensembl 74_37 -1 known in_frame_ins c.1845_1844 p.619in_frame_insE 0.658:0.745 NULL NULL - no_errors TPRN HGNC ENSG00000176058 25 0 0 35 6 14.6341 PNPLA7 0 genome.wustl.edu 37 9 140356679 140356679 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 140356679 140356679 G - DEL PNPLA7 ENST00000406427 human ensembl 74_37 -1 known frame_shift_del c.3597 p.I1200fs 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 46 0 0 31 8 20.5128 MIR602 0 genome.wustl.edu 37 9 140732961 140732961 + RNA DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 140732961 140732961 C - DEL MIR602 ENST00000384960 human ensembl 74_37 +1 known rna NULL NULL 0.093 - - - no_errors MIR602 HGNC ENSG00000207693 28 0 0 31 12 27.907 BNC2 0 genome.wustl.edu 37 9 16436375 16436375 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 16436375 16436375 G - DEL BNC2 ENST00000380672 human ensembl 74_37 -1 known frame_shift_del c.1817 p.P606fs 0.551 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 83 0 0 88 11 11.1111 ADAMTSL1 0 genome.wustl.edu 37 9 18680350 18680350 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 18680350 18680350 G - DEL ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known frame_shift_del c.1177 p.G395fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 43 0 0 40 9 18.3673 PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 12 0 0 1 15 93.75 TRMT10B 0 genome.wustl.edu 37 9 37763633 37763633 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 37763633 37763633 C - DEL TRMT10B ENST00000297994 human ensembl 74_37 +1 known frame_shift_del c.303 p.Q103fs 0.964 NULL pfam_tRNA_m1G_MeTrfase - no_errors TRMT10B HGNC ENSG00000165275 70 0 0 112 19 14.5038 KGFLP2 0 genome.wustl.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 41962602 41962602 G - DEL KGFLP2 ENST00000454645 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 87 0 0 115 13 10.1562 SPATA31D1 0 genome.wustl.edu 37 9 84603897 84603897 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 84603897 84603897 A - DEL SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known frame_shift_del c.164 p.N57fs 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 71 0 0 116 23 16.5468 KIF27 0 genome.wustl.edu 37 9 86452186 86452186 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 86452186 86452186 G - DEL KIF27 ENST00000297814 human ensembl 74_37 -1 known frame_shift_del c.3936 p.S1313fs 0.992 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 100 0 0 144 14 8.86076 DAPK1 0 genome.wustl.edu 37 9 90321802 90321802 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 71 0 0 78 22 22 SECISBP2 0 genome.wustl.edu 37 9 91956314 91956315 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 9 91956314 91956315 - G INS SECISBP2 ENST00000375807 human ensembl 74_37 +1 known frame_shift_ins c.1355_1356 p.M455fs 1.000:1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 67 0 0 94 27 22.314 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc 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 13 0 0 15 2 11.7647 NRK 0 genome.wustl.edu 37 X 105156736 105156736 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 105156736 105156736 A - DEL NRK ENST00000428173 human ensembl 74_37 +1 known frame_shift_del c.2341 p.I783fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 16 0 0 11 5 31.25 TEX13B 0 genome.wustl.edu 37 X 107224932 107224933 + Frame_Shift_Del DEL CT CT - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 107224932 107224933 CT - DEL TEX13B ENST00000302917 human ensembl 74_37 -1 known frame_shift_del c.426_425 p.E142fs 0.005:0.009 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 110 0 0 117 47 28.6585 TLR8 0 genome.wustl.edu 37 X 12939876 12939876 + Frame_Shift_Del DEL A A - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 12939876 12939876 A - DEL TLR8 ENST00000218032 human ensembl 74_37 +1 known frame_shift_del c.2717 p.E907fs 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 142 0 0 143 47 24.7368 HS6ST2 0 genome.wustl.edu 37 X 131762581 131762582 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 131762581 131762582 - A INS HS6ST2 ENST00000521489 human ensembl 74_37 -1 known frame_shift_ins c.1608_1607 p.L536fs 1.000:1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 228 0 0 247 59 19.281 AFF2 0 genome.wustl.edu 37 X 148039963 148039963 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 148039963 148039963 C - DEL AFF2 ENST00000370460 human ensembl 74_37 +1 known frame_shift_del c.2665 p.H890fs 0.986 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 314 0 0 243 41 14.4366 MAGEA8 0 genome.wustl.edu 37 X 149013702 149013702 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 149013702 149013702 C - DEL MAGEA8 ENST00000286482 human ensembl 74_37 +1 known frame_shift_del c.656 p.P220fs 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 117 0 0 98 10 9.25926 MAGEA8 0 genome.wustl.edu 37 X 149013887 149013888 + Frame_Shift_Ins INS - - T TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 149013887 149013888 - T INS MAGEA8 ENST00000286482 human ensembl 74_37 +1 known frame_shift_ins c.841_842 p.A282fs 0.020:0.020 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 287 0 0 234 81 25.7143 MAMLD1 0 genome.wustl.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 149639633 149639635 GCA - DEL MAMLD1 ENST00000432680 human ensembl 74_37 +1 known in_frame_del c.1713_1715 p.Q575in_frame_del 0.997:1.000:0.996 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 78 0 0 61 13 17.5676 PRRG3 0 genome.wustl.edu 37 X 150869296 150869297 + Frame_Shift_Ins INS - - G TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 150869296 150869297 - G INS PRRG3 ENST00000370353 human ensembl 74_37 +1 known frame_shift_ins c.487_488 p.R166fs 0.000:0.000 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 40 0 0 35 8 18.6047 CNGA2 0 genome.wustl.edu 37 X 150912002 150912002 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 150912002 150912002 C - DEL CNGA2 ENST00000329903 human ensembl 74_37 +1 known frame_shift_del c.1027 p.P344fs 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 124 0 0 122 40 24.6914 CSAG4 0 genome.wustl.edu 37 X 151896259 151896259 + RNA DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 151896259 151896259 T - DEL CSAG4 ENST00000361201 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSAG4 HGNC ENSG00000242599 52 0 0 47 13 21.6667 F8 0 genome.wustl.edu 37 X 154158195 154158195 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 154158195 154158195 T - DEL F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_del c.3870 p.E1292fs 0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 107 0 0 92 31 25.2033 GPR64 0 genome.wustl.edu 37 X 19046358 19046359 + Splice_Site INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 19046358 19046359 - A INS GPR64 ENST00000379869 human ensembl 74_37 -1 known splice_site_ins c.359-3_359-2 e8-2 0.998:0.998 - - - no_errors GPR64 HGNC ENSG00000173698 46 0 0 35 14 28.5714 MBTPS2 0 genome.wustl.edu 37 X 21863335 21863335 + Frame_Shift_Del DEL T T - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 21863335 21863335 T - DEL MBTPS2 ENST00000379484 human ensembl 74_37 +1 known frame_shift_del c.271 p.L93fs 1.000 NULL pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 137 0 0 117 41 25.9494 CXXC1P1 0 genome.wustl.edu 37 X 47583505 47583505 + RNA DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 47583505 47583505 C - DEL CXXC1P1 ENST00000483225 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CXXC1P1 HGNC ENSG00000187893 9 0 0 6 3 33.3333 TFE3 0 genome.wustl.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 48887952 48887952 C - DEL TFE3 ENST00000315869 human ensembl 74_37 -1 known frame_shift_del c.1445 p.G482fs 0.037 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFE3 HGNC ENSG00000068323 76 0 0 63 29 31.5217 TSPYL2 0 genome.wustl.edu 37 X 53112052 53112052 + Frame_Shift_Del DEL G G - TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 53112052 53112052 G - DEL TSPYL2 ENST00000375442 human ensembl 74_37 +1 known frame_shift_del c.372 p.S127fs 0.022 NULL pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 10 0 0 7 7 50 TNMD 0 genome.wustl.edu 37 X 99854069 99854070 + Frame_Shift_Ins INS - - A TCGA-BR-4292-01A-01D-1126-08 TCGA-BR-4292-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d7fafe9d-132f-4939-b049-9cc998ec1bc6 126ae43a-7a3b-4037-a5dc-9ad55b2f24bc X 99854069 99854070 - A INS TNMD ENST00000373031 human ensembl 74_37 +1 known frame_shift_ins c.634_635 p.G215fs 0.000:0.000 NULL pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom - no_errors TNMD HGNC ENSG00000000005 34 0 0 44 10 18.5185