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 CASZ1 0 genome.wustl.edu 37 1 10713858 10713858 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 10713858 10713858 A G SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.2256 p.A752 0.980 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 66 0 0 47 8 14.5455 GPSM2 0 genome.wustl.edu 37 1 109444457 109444457 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 109444457 109444457 A C SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.843 p.E281D 1.000 pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 63 0 0 52 8 13.3333 PSMA5 0 genome.wustl.edu 37 1 109954653 109954653 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 109954653 109954653 A C SNP PSMA5 ENST00000484563 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PSMA5 HGNC ENSG00000143106 43 0 0 39 9 18.75 PSMA5 0 genome.wustl.edu 37 1 109954670 109954670 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 109954670 109954670 A C SNP PSMA5 ENST00000484563 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PSMA5 HGNC ENSG00000143106 52 0 0 43 9 17.3077 KCNA10 0 genome.wustl.edu 37 1 111060063 111060063 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 111060063 111060063 A G SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known silent c.1347 p.I449 0.443 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 61 0 0 37 13 26 MTOR 0 genome.wustl.edu 37 1 11298633 11298633 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 11298633 11298633 A C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.1828 p.F610V 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 38 0 0 32 4 11.1111 MTOR 0 genome.wustl.edu 37 1 11303171 11303171 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 11303171 11303171 T G SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.1412 p.K471T 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 66 0 0 52 20 27.7778 ST7L 0 genome.wustl.edu 37 1 113084544 113084544 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 113084544 113084544 T G SNP ST7L ENST00000343210 human ensembl 74_37 -1 known missense c.1658 p.D553A 0.880 NULL pfam_ST7 - no_errors ST7L HGNC ENSG00000007341 60 0 0 51 4 7.27273 ST7L 0 genome.wustl.edu 37 1 113120988 113120988 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 113120988 113120988 T G SNP ST7L ENST00000358039 human ensembl 74_37 -1 known missense c.1121 p.K374T 1.000 pfam_ST7 pfam_ST7 - no_errors ST7L HGNC ENSG00000007341 103 0 0 90 22 19.6429 SYCP1 0 genome.wustl.edu 37 1 115418757 115418757 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 115418757 115418757 A C SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.725 p.K242T 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 82 0 0 52 13 20 MAD2L2 0 genome.wustl.edu 37 1 11736991 11736991 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 11736991 11736991 T C SNP MAD2L2 ENST00000376669 human ensembl 74_37 -1 known silent c.246 p.K82 0.997 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L2 HGNC ENSG00000116670 69 0 0 43 5 10.4167 PTGFRN 0 genome.wustl.edu 37 1 117509665 117509665 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 117509665 117509665 A G SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known missense c.1772 p.K591R 1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 88 0 0 52 20 27.7778 SPAG17 0 genome.wustl.edu 37 1 118571009 118571009 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 118571009 118571009 T G SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.3618 p.E1206D 0.645 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 96 0 0 74 27 26.7327 SPAG17 0 genome.wustl.edu 37 1 118629317 118629317 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 118629317 118629317 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.1588 p.A530T 0.917 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 92 0 0 66 18 21.4286 VPS13D 0 genome.wustl.edu 37 1 12313878 12313878 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 12313878 12313878 T G SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.664 p.L222V 0.982 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 114 0 0 74 23 23.7113 PRAMEF11 0 genome.wustl.edu 37 1 12884956 12884956 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 12884956 12884956 A G SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known silent c.1155 p.T385 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 353 0 0 297 42 12.3894 PRAMEF5 0 genome.wustl.edu 37 1 13365910 13365910 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 13365910 13365910 A C SNP PRAMEF5 ENST00000376168 human ensembl 74_37 +1 known missense c.354 p.E118D 0.028 NULL NULL - no_errors PRAMEF5 HGNC ENSG00000204502 38 0 0 22 10 31.25 PDE4DIP 0 genome.wustl.edu 37 1 144922549 144922549 + Silent SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 144922549 144922549 G C SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known silent c.858 p.L286 0.998 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 456 0 0 388 55 12.4153 PDE4DIP 0 genome.wustl.edu 37 1 144952201 144952201 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 144952201 144952201 T G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.518 p.K173T 0.999 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 214 0 0 170 9 5.02793 NBPF10 0 genome.wustl.edu 37 1 145297634 145297634 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 145297634 145297634 A T SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.509 p.E170V 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 575 0 0 469 27 5.44355 TXNIP 0 genome.wustl.edu 37 1 145441019 145441019 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 145441019 145441019 A T SNP TXNIP ENST00000369317 human ensembl 74_37 +1 known missense c.1106 p.E369V 0.998 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ENSG00000117289 211 0 0 141 49 25.7895 NBPF15 0 genome.wustl.edu 37 1 148594490 148594490 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 148594490 148594490 A C SNP NBPF15 ENST00000369187 human ensembl 74_37 +1 known missense c.1863 p.Q621H 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF15 HGNC ENSG00000243452 488 0 0 336 55 14.0665 VPS45 0 genome.wustl.edu 37 1 150049167 150049167 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 150049167 150049167 A C SNP VPS45 ENST00000460366 human ensembl 74_37 +1 known rna NULL NULL 0.951 - - - no_errors VPS45 HGNC ENSG00000136631 88 0 0 74 14 15.9091 RPRD2 0 genome.wustl.edu 37 1 150443335 150443335 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 150443335 150443335 T C SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known silent c.1911 p.T637 0.161 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 112 0 0 72 15 17.2414 GABPB2 0 genome.wustl.edu 37 1 151090836 151090836 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 151090836 151090836 A C SNP GABPB2 ENST00000467551 human ensembl 74_37 +1 known rna NULL NULL 0.886 - - - no_errors GABPB2 HGNC ENSG00000143458 15 0 0 8 5 38.4615 POGZ 0 genome.wustl.edu 37 1 151384138 151384138 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 151384138 151384138 T G SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.1889 p.N630T 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 93 0 0 66 28 29.7872 TCHHL1 0 genome.wustl.edu 37 1 152059288 152059288 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 152059288 152059288 T G SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.870 p.E290D 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 229 0 0 155 51 24.7573 FLG 0 genome.wustl.edu 37 1 152278844 152278844 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 152278844 152278844 T A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8518 p.T2840S 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 967 0 0 720 100 12.1951 FLG 0 genome.wustl.edu 37 1 152283117 152283117 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 152283117 152283117 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.4245 p.Q1415 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 433 0 0 283 90 24.1287 SPRR2D 0 genome.wustl.edu 37 1 153012624 153012624 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 153012624 153012624 A C SNP SPRR2D ENST00000360379 human ensembl 74_37 -1 known missense c.199 p.C67G 0.945 NULL NULL - no_errors SPRR2D HGNC ENSG00000163216 288 0 0 157 56 26.2911 ADAR 0 genome.wustl.edu 37 1 154561054 154561054 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 154561054 154561054 T C SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.2987 p.K996R 0.945 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 156 0 0 109 32 22.695 ASH1L 0 genome.wustl.edu 37 1 155448496 155448496 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 155448496 155448496 A C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.4165 p.S1389A 0.943 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 98 0 0 51 26 33.7662 ASH1L 0 genome.wustl.edu 37 1 155450488 155450488 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 155450488 155450488 T C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2173 p.R725G 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 105 0 0 61 13 17.5676 CCDC19 0 genome.wustl.edu 37 1 159842746 159842746 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 159842746 159842746 A G SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.1565 p.L522P 0.985 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 68 0 0 45 5 10 CASQ1 0 genome.wustl.edu 37 1 160168757 160168757 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 160168757 160168757 T G SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known missense c.898 p.L300V 0.967 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 80 0 0 62 17 21.519 OLFML2B 0 genome.wustl.edu 37 1 161969998 161969998 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 161969998 161969998 A C SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.854 p.L285R 0.997 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 120 0 0 73 9 10.9756 RXRG 0 genome.wustl.edu 37 1 165406414 165406414 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 165406414 165406414 A C SNP RXRG ENST00000465764 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RXRG HGNC ENSG00000143171 39 0 0 29 9 23.6842 LRRC52 0 genome.wustl.edu 37 1 165532984 165532984 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 165532984 165532984 G A SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known missense c.865 p.G289R 0.004 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 117 0 0 75 13 14.7727 ADCY10 0 genome.wustl.edu 37 1 167823637 167823637 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 167823637 167823637 T C SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known silent c.2262 p.Q754 0.000 superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 151 0 0 75 32 29.9065 XCL1 0 genome.wustl.edu 37 1 168550314 168550314 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 168550314 168550314 A G SNP XCL1 ENST00000367818 human ensembl 74_37 +1 known silent c.201 p.K67 0.586 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_XCL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_XCL1 - no_errors XCL1 HGNC ENSG00000143184 71 0 0 48 13 21.3115 F5 0 genome.wustl.edu 37 1 169510764 169510764 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 169510764 169510764 T C SNP F5 ENST00000367797 human ensembl 74_37 -1 known silent c.3564 p.P1188 0.431 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 268 0 0 195 75 27.7778 F5 0 genome.wustl.edu 37 1 169511737 169511737 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 169511737 169511737 T G SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.2591 p.K864T 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 227 0 0 186 25 11.8483 FMO3 0 genome.wustl.edu 37 1 171086467 171086467 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 171086467 171086467 A C SNP FMO3 ENST00000367755 human ensembl 74_37 +1 known missense c.1484 p.K495T 0.666 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 70 0 0 50 16 24.2424 SLC9C2 0 genome.wustl.edu 37 1 173503803 173503803 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 173503803 173503803 A G SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known silent c.1794 p.T598 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 29 0 0 28 5 15.1515 PADI4 0 genome.wustl.edu 37 1 17666206 17666206 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 17666206 17666206 A G SNP PADI4 ENST00000375448 human ensembl 74_37 +1 known missense c.550 p.T184A 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,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 PADI4 HGNC ENSG00000159339 73 0 0 49 13 20.9677 ANGPTL1 0 genome.wustl.edu 37 1 178834562 178834562 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 178834562 178834562 T G SNP ANGPTL1 ENST00000234816 human ensembl 74_37 -1 known missense c.350 p.K117T 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL1 HGNC ENSG00000116194 113 0 0 78 35 30.9735 ABL2 0 genome.wustl.edu 37 1 179089374 179089374 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 179089374 179089374 T G SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known missense c.996 p.E332D 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 156 0 0 125 16 11.3475 ABL2 0 genome.wustl.edu 37 1 179095648 179095648 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 179095648 179095648 T C SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known missense c.551 p.E184G 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 121 0 0 118 8 6.34921 SOAT1 0 genome.wustl.edu 37 1 179304702 179304702 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 179304702 179304702 T C SNP SOAT1 ENST00000367619 human ensembl 74_37 +1 known missense c.239 p.L80P 1.000 NULL pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 84 0 0 58 13 18.3099 GLUL 0 genome.wustl.edu 37 1 182355421 182355421 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 182355421 182355421 A G SNP GLUL ENST00000311223 human ensembl 74_37 -1 known missense c.445 p.W149R 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 189 0 0 129 34 20.8589 RGS16 0 genome.wustl.edu 37 1 182572397 182572397 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 182572397 182572397 T C SNP RGS16 ENST00000367558 human ensembl 74_37 -1 known missense c.122 p.K41R 1.000 NULL 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 RGS16 HGNC ENSG00000143333 159 0 0 106 18 14.5161 DHX9 0 genome.wustl.edu 37 1 182829162 182829162 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 182829162 182829162 A C SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.1175 p.K392T 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 129 0 0 110 20 15.3846 PTGS2 0 genome.wustl.edu 37 1 186643498 186643498 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 186643498 186643498 G A SNP PTGS2 ENST00000367468 human ensembl 74_37 -1 known missense c.1802 p.S601L 0.955 NULL 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 121 0 0 92 15 14.0187 LHX9 0 genome.wustl.edu 37 1 197890706 197890706 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 197890706 197890706 A C SNP LHX9 ENST00000367387 human ensembl 74_37 +1 known missense c.650 p.N217T 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 46 0 0 22 4 15.3846 CAMSAP2 0 genome.wustl.edu 37 1 200822487 200822487 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 200822487 200822487 A C SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known missense c.3720 p.K1240N 0.977 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 110 0 0 73 12 14.1176 LAD1 0 genome.wustl.edu 37 1 201355652 201355652 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 201355652 201355652 C T SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known silent c.879 p.P293 0.001 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 146 0 0 95 21 18.1034 NAV1 0 genome.wustl.edu 37 1 201751840 201751840 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 201751840 201751840 A T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.2200 p.T734S 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 64 0 0 59 14 19.1781 LGR6 0 genome.wustl.edu 37 1 202287259 202287259 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 202287259 202287259 T A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.1828 p.L610M 0.236 pfam_GPCR_Rhodpsn 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 - no_errors LGR6 HGNC ENSG00000133067 69 0 0 38 16 29.6296 PRELP 0 genome.wustl.edu 37 1 203452402 203452402 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 203452402 203452402 T C SNP PRELP ENST00000343110 human ensembl 74_37 +1 known silent c.90 p.T30 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 124 0 0 78 14 15.2174 LAX1 0 genome.wustl.edu 37 1 203741246 203741246 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 203741246 203741246 T A SNP LAX1 ENST00000442561 human ensembl 74_37 +1 known missense c.361 p.S121T 0.999 NULL NULL - no_errors LAX1 HGNC ENSG00000122188 57 0 0 43 9 17.3077 LRRN2 0 genome.wustl.edu 37 1 204587213 204587213 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 204587213 204587213 A G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known silent c.1908 p.A636 0.421 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 46 0 0 35 6 14.6341 CR1 0 genome.wustl.edu 37 1 207780607 207780607 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 207780607 207780607 T G SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.5822 p.I1941S 0.594 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 87 0 0 76 17 18.2796 INTS7 0 genome.wustl.edu 37 1 212161319 212161319 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 212161319 212161319 A G SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known silent c.759 p.T253 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 35 0 0 27 8 22.8571 PTPN14 0 genome.wustl.edu 37 1 214705946 214705946 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 214705946 214705946 T G SNP PTPN14 ENST00000491277 human ensembl 74_37 -1 putative rna NULL NULL 0.354 - - - no_errors PTPN14 HGNC ENSG00000152104 123 0 0 100 16 13.7931 USH2A 0 genome.wustl.edu 37 1 216595645 216595645 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 216595645 216595645 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.34 p.F12V 0.005 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 45 0 0 47 21 30.8824 MARC1 0 genome.wustl.edu 37 1 220970082 220970082 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 220970082 220970082 T G SNP MARC1 ENST00000366910 human ensembl 74_37 +1 known missense c.547 p.F183V 0.997 superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC1 HGNC ENSG00000186205 41 0 0 24 12 33.3333 MARC1 0 genome.wustl.edu 37 1 220978447 220978447 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 220978447 220978447 T C SNP MARC1 ENST00000366910 human ensembl 74_37 +1 known silent c.807 p.A269 0.964 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC1 HGNC ENSG00000186205 143 0 0 80 27 25.2336 LIN9 0 genome.wustl.edu 37 1 226455692 226455692 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 226455692 226455692 A C SNP LIN9 ENST00000328205 human ensembl 74_37 -1 known missense c.830 p.L277R 1.000 NULL pfam_LIN-9/ALY1 - no_errors LIN9 HGNC ENSG00000183814 51 0 0 36 5 12.1951 URB2 0 genome.wustl.edu 37 1 229771360 229771360 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 229771360 229771360 T C SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.1000 p.C334R 0.996 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 130 0 0 99 14 12.3894 URB2 0 genome.wustl.edu 37 1 229773272 229773272 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 229773272 229773272 T G SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.2912 p.F971C 0.945 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 209 0 0 160 34 17.5258 PGBD5 0 genome.wustl.edu 37 1 230486768 230486768 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 230486768 230486768 T C SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known missense c.920 p.K307R 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 90 0 0 72 11 13.253 SIPA1L2 0 genome.wustl.edu 37 1 232581415 232581415 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 232581415 232581415 A G SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.3213 p.T1071 0.005 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 100 0 0 50 20 28.5714 PCNXL2 0 genome.wustl.edu 37 1 233136103 233136103 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 233136103 233136103 T C SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.5276 p.E1759G 1.000 pfam_Pecanex,superfamily_Trypsin-like_Pept_dom pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 128 0 0 82 19 18.8119 SLC35F3 0 genome.wustl.edu 37 1 234452387 234452387 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 234452387 234452387 A C SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known missense c.661 p.M221L 1.000 pfam_DMT,pfam_SLC35_F1/F2/F6 pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 401 0 0 325 41 11.2022 TARBP1 0 genome.wustl.edu 37 1 234541725 234541725 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 234541725 234541725 T G SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.3913 p.S1305R 0.000 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 111 0 0 61 30 32.967 LYST 0 genome.wustl.edu 37 1 235884124 235884124 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 235884124 235884124 T A SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.9397 p.N3133Y 0.997 pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 130 0 0 107 12 10.084 LYST 0 genome.wustl.edu 37 1 235993568 235993568 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 235993568 235993568 T G SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.150 p.R50 0.999 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 77 0 0 61 8 11.5942 ACTN2 0 genome.wustl.edu 37 1 236906233 236906233 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 236906233 236906233 A G SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1145 p.E382G 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 89 0 0 69 13 15.8537 ACTN2 0 genome.wustl.edu 37 1 236914899 236914899 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 236914899 236914899 A T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1786 p.S596C 0.564 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 78 0 0 55 20 26.6667 RYR2 0 genome.wustl.edu 37 1 237754244 237754244 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 237754244 237754244 A T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4106 p.N1369I 1.000 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 44 0 0 32 10 23.8095 RYR2 0 genome.wustl.edu 37 1 237777619 237777619 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 237777619 237777619 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5185 p.E1729K 0.998 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 52 0 0 35 11 23.913 RYR2 0 genome.wustl.edu 37 1 237806735 237806735 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 237806735 237806735 A T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7324 p.T2442S 0.166 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 89 0 0 70 26 27.0833 CHRM3 0 genome.wustl.edu 37 1 240071166 240071166 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 240071166 240071166 T A SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.415 p.L139M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 76 0 0 64 17 20.9877 ADSS 0 genome.wustl.edu 37 1 244587330 244587330 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 244587330 244587330 A C SNP ADSS ENST00000366535 human ensembl 74_37 -1 known missense c.506 p.V169G 0.996 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 ADSS HGNC ENSG00000035687 44 0 0 42 8 16 C1orf101 0 genome.wustl.edu 37 1 244724442 244724442 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 244724442 244724442 T G SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known missense c.1049 p.F350C 0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 109 0 0 89 32 26.4463 STPG1 0 genome.wustl.edu 37 1 24727880 24727880 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 24727880 24727880 T G SNP STPG1 ENST00000468303 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors STPG1 HGNC ENSG00000001460 44 0 0 38 6 13.6364 NLRP3 0 genome.wustl.edu 37 1 247588114 247588114 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 247588114 247588114 A G SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1369 p.S457G 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 50 0 0 42 5 10.6383 OR11L1 0 genome.wustl.edu 37 1 248004777 248004777 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 248004777 248004777 C T SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.422 p.C141Y 0.147 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 104 0 0 57 11 16.1765 OR2L5 0 genome.wustl.edu 37 1 248186014 248186014 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 248186014 248186014 T G SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known silent c.765 p.A255 0.000 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 OR2L5 HGNC ENSG00000197454 137 0 0 112 36 24.3243 OR2M4 0 genome.wustl.edu 37 1 248402855 248402855 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 248402855 248402855 T C SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known missense c.625 p.F209L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 105 0 0 71 28 28.2828 OR2G6 0 genome.wustl.edu 37 1 248685651 248685651 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 248685651 248685651 A G SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.704 p.Q235R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 112 0 0 84 27 24.3243 LIN28A 0 genome.wustl.edu 37 1 26752823 26752823 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 26752823 26752823 C T SNP LIN28A ENST00000254231 human ensembl 74_37 +1 known silent c.504 p.S168 0.978 superfamily_Znf_CCHC,smart_Znf_CCHC pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28A HGNC ENSG00000131914 100 0 0 44 15 25.4237 MIR1976 0 genome.wustl.edu 37 1 26881043 26881043 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 26881043 26881043 A C SNP MIR1976 ENST00000459548 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR1976 HGNC ENSG00000238705 129 0 0 75 27 26.4706 ARID1A 0 genome.wustl.edu 37 1 27105610 27105610 + Nonsense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 27105610 27105610 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.5221 p.Q1741* 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 163 0 0 135 25 15.625 FGR 0 genome.wustl.edu 37 1 27949577 27949577 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 27949577 27949577 T A SNP FGR ENST00000374003 human ensembl 74_37 -1 known missense c.305 p.E102V 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 56 0 0 35 14 28.5714 ZSCAN20 0 genome.wustl.edu 37 1 33956645 33956645 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 33956645 33956645 A C SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.787 p.S263R 0.049 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 66 0 0 41 8 16.3265 ZMYM6 0 genome.wustl.edu 37 1 35453121 35453121 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 35453121 35453121 A C SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.3562 p.F1188V 0.345 superfamily_RNaseH-like_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 83 0 0 58 9 13.4328 ZMYM4 0 genome.wustl.edu 37 1 35847321 35847321 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 35847321 35847321 A G SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.1531 p.K511E 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 125 0 0 96 21 17.9487 TEKT2 0 genome.wustl.edu 37 1 36552352 36552352 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 36552352 36552352 A C SNP TEKT2 ENST00000207457 human ensembl 74_37 +1 known missense c.536 p.K179T 1.000 pfam_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 89 0 0 67 7 9.45946 GRIK3 0 genome.wustl.edu 37 1 37337949 37337949 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 37337949 37337949 A G SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.572 p.L191P 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 GRIK3 HGNC ENSG00000163873 76 0 0 56 11 16.4179 INPP5B 0 genome.wustl.edu 37 1 38328033 38328033 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 38328033 38328033 T G SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known missense c.2936 p.K979T 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 104 0 0 66 8 10.8108 PABPC4 0 genome.wustl.edu 37 1 40035289 40035289 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 40035289 40035289 T C SNP PABPC4 ENST00000372858 human ensembl 74_37 -1 known missense c.716 p.E239G 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 141 0 0 92 35 27.5591 TMCO2 0 genome.wustl.edu 37 1 40717105 40717105 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 40717105 40717105 T G SNP TMCO2 ENST00000372766 human ensembl 74_37 +1 known missense c.388 p.L130V 0.879 NULL NULL - no_errors TMCO2 HGNC ENSG00000188800 84 0 0 63 12 16 ZNF684 0 genome.wustl.edu 37 1 41012365 41012365 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 41012365 41012365 A C SNP ZNF684 ENST00000372699 human ensembl 74_37 +1 known missense c.370 p.S124R 0.010 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 ZNF684 HGNC ENSG00000117010 47 0 0 45 17 27.4194 HIVEP3 0 genome.wustl.edu 37 1 42048511 42048511 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 42048511 42048511 T G SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1958 p.K653T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 139 0 0 92 25 21.3675 SZT2 0 genome.wustl.edu 37 1 43906924 43906924 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 43906924 43906924 A C SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.7213 p.T2405P 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 270 0 0 177 17 8.76289 EIF2B3 0 genome.wustl.edu 37 1 45392349 45392349 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 45392349 45392349 C T SNP EIF2B3 ENST00000360403 human ensembl 74_37 -1 known missense c.517 p.E173K 1.000 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 108 0 0 85 18 17.4757 EIF2B3 0 genome.wustl.edu 37 1 45392393 45392393 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 45392393 45392393 A C SNP EIF2B3 ENST00000360403 human ensembl 74_37 -1 known missense c.473 p.I158S 1.000 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 97 0 0 85 15 15 HECTD3 0 genome.wustl.edu 37 1 45470426 45470426 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 45470426 45470426 T A SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known missense c.1988 p.K663M 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 134 0 0 87 22 20.1835 EFCAB14-AS1 0 genome.wustl.edu 37 1 47152379 47152379 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 47152379 47152379 A C SNP EFCAB14-AS1 ENST00000418985 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors EFCAB14-AS1 HGNC ENSG00000228237 14 0 0 4 4 50 CYP4Z1 0 genome.wustl.edu 37 1 47534415 47534415 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 47534415 47534415 A C SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known missense c.299 p.K100T 0.212 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 117 0 0 83 36 30.2521 DMRTA2 0 genome.wustl.edu 37 1 50884941 50884941 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 50884941 50884941 T G SNP DMRTA2 ENST00000404795 human ensembl 74_37 -1 known missense c.1025 p.D342A 1.000 pfam_DMA,superfamily_UBA-like pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTA2 HGNC ENSG00000142700 23 0 0 15 4 21.0526 ZFYVE9 0 genome.wustl.edu 37 1 52703680 52703680 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 52703680 52703680 T C SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known silent c.591 p.F197 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 76 0 0 55 19 25.6757 SCP2 0 genome.wustl.edu 37 1 53493736 53493736 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 53493736 53493736 T C SNP SCP2 ENST00000371514 human ensembl 74_37 +1 known missense c.1331 p.L444P 1.000 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom - no_errors SCP2 HGNC ENSG00000116171 21 0 0 22 5 18.5185 C1orf177 0 genome.wustl.edu 37 1 55279516 55279516 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 55279516 55279516 C T SNP C1orf177 ENST00000371273 human ensembl 74_37 +1 known silent c.792 p.F264 0.921 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 76 0 0 63 10 13.6986 PRKAA2 0 genome.wustl.edu 37 1 57173228 57173228 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 57173228 57173228 A T SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.1501 p.S501C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 123 0 0 102 41 28.6713 CYP2J2 0 genome.wustl.edu 37 1 60381714 60381714 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 60381714 60381714 A C SNP CYP2J2 ENST00000371204 human ensembl 74_37 -1 known missense c.269 p.L90R 0.001 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2J2 HGNC ENSG00000134716 106 1 0.934579 68 8 10.5263 NFIA 0 genome.wustl.edu 37 1 61743219 61743219 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 61743219 61743219 A G SNP NFIA ENST00000371189 human ensembl 74_37 +1 known missense c.722 p.Q241R 1.000 NULL 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 NFIA HGNC ENSG00000162599 105 0 0 66 11 14.2857 KANK4 0 genome.wustl.edu 37 1 62733982 62733982 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 62733982 62733982 T C SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known silent c.2208 p.E736 0.009 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 59 0 0 38 7 15.5556 EFCAB7 0 genome.wustl.edu 37 1 64036736 64036736 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 64036736 64036736 A C SNP EFCAB7 ENST00000371088 human ensembl 74_37 +1 known missense c.1752 p.K584N 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB7 HGNC ENSG00000203965 97 0 0 88 5 5.37634 PDE4B 0 genome.wustl.edu 37 1 66723184 66723184 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 66723184 66723184 A C SNP PDE4B ENST00000371048 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDE4B HGNC ENSG00000184588 107 0 0 106 16 13.1148 SGIP1 0 genome.wustl.edu 37 1 67142729 67142729 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 67142729 67142729 T G SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.701 p.I234S 0.834 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 86 0 0 60 15 20 DIRAS3 0 genome.wustl.edu 37 1 68512291 68512291 + Nonstop_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 68512291 68512291 T C SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known nonstop c.690 p.*230W 0.849 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 96 0 0 62 18 22.5 RPE65 0 genome.wustl.edu 37 1 68912456 68912456 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 68912456 68912456 A C SNP RPE65 ENST00000262340 human ensembl 74_37 -1 known missense c.182 p.F61C 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 82 0 0 67 8 10.6667 LRRC7 0 genome.wustl.edu 37 1 70503937 70503937 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 70503937 70503937 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.2316 p.S772 0.017 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 171 0 0 142 46 24.4681 FAM41C 0 genome.wustl.edu 37 1 809844 809844 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 809844 809844 T G SNP FAM41C ENST00000446136 human ensembl 74_37 -1 known rna NULL NULL 0.730 - - - no_errors FAM41C HGNC ENSG00000230368 60 0 0 33 12 26.6667 LPHN2 0 genome.wustl.edu 37 1 82445580 82445580 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 82445580 82445580 T G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.3037 p.L1013V 0.962 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 47 0 0 36 11 23.4043 TTLL7 0 genome.wustl.edu 37 1 84335548 84335548 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 84335548 84335548 A C SNP TTLL7 ENST00000472688 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TTLL7 HGNC ENSG00000137941 22 0 0 17 7 29.1667 TTLL7 0 genome.wustl.edu 37 1 84387044 84387044 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 84387044 84387044 T G SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.1176 p.Q392H 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 73 0 0 39 9 18.75 TTLL7 0 genome.wustl.edu 37 1 84412957 84412957 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 84412957 84412957 T A SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.356 p.K119M 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 42 0 0 32 20 38.4615 MCOLN3 0 genome.wustl.edu 37 1 85486830 85486830 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 85486830 85486830 A C SNP MCOLN3 ENST00000370589 human ensembl 74_37 -1 known missense c.1450 p.S484A 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 91 0 0 41 15 26.7857 SLC2A5 0 genome.wustl.edu 37 1 9101786 9101786 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 9101786 9101786 A C SNP SLC2A5 ENST00000377414 human ensembl 74_37 -1 known missense c.629 p.L210R 0.000 pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Fru_transpt_5,prints_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 68 0 0 42 4 8.69565 BARHL2 0 genome.wustl.edu 37 1 91178170 91178170 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 91178170 91178170 T C SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known missense c.863 p.K288R 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 BARHL2 HGNC ENSG00000143032 27 0 0 29 3 9.375 CCDC18 0 genome.wustl.edu 37 1 93667544 93667544 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 93667544 93667544 A C SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.1148 p.K383T 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 40 0 0 27 4 12.9032 F3 0 genome.wustl.edu 37 1 94998735 94998735 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 94998735 94998735 T G SNP F3 ENST00000334047 human ensembl 74_37 -1 known silent c.502 p.R168 0.003 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor - no_errors F3 HGNC ENSG00000117525 74 0 0 76 9 10.5882 LPPR4 0 genome.wustl.edu 37 1 99771358 99771358 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 99771358 99771358 A G SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1084 p.N362D 0.956 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 136 0 0 102 18 15 DNMBP 0 genome.wustl.edu 37 10 101715673 101715673 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 101715673 101715673 T C SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.1558 p.R520G 0.000 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 140 0 0 80 44 35.4839 SEC31B 0 genome.wustl.edu 37 10 102267705 102267705 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 102267705 102267705 T A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.599 p.K200M 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 SEC31B HGNC ENSG00000075826 138 0 0 118 12 9.23077 LZTS2 0 genome.wustl.edu 37 10 102762461 102762461 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 102762461 102762461 T G SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.166 p.F56V 1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 86 0 0 35 15 30 LZTS2 0 genome.wustl.edu 37 10 102766282 102766282 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 102766282 102766282 A C SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.1367 p.Q456P 1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 26 0 0 20 2 9.09091 LZTS2 0 genome.wustl.edu 37 10 102766292 102766292 + Missense_Mutation SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 102766292 102766292 G C SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.1377 p.E459D 0.984 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 25 0 0 21 2 8.69565 KCNIP2 0 genome.wustl.edu 37 10 103588422 103588422 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 103588422 103588422 T G SNP KCNIP2 ENST00000461105 human ensembl 74_37 -1 known missense c.425 p.N142T 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP2 HGNC ENSG00000120049 80 0 0 39 19 32.7586 PSD 0 genome.wustl.edu 37 10 104164360 104164360 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 104164360 104164360 C T SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.2680 p.A894T 0.997 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 119 0 0 59 23 28.0488 SFXN2 0 genome.wustl.edu 37 10 104492639 104492639 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 104492639 104492639 A C SNP SFXN2 ENST00000480358 human ensembl 74_37 +1 known missense c.455 p.K152T 0.995 NULL pfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 90 0 0 59 10 14.4928 CYP17A1 0 genome.wustl.edu 37 10 104597033 104597033 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 104597033 104597033 T A SNP CYP17A1 ENST00000369887 human ensembl 74_37 -1 known missense c.86 p.K29M 0.984 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP17A1 HGNC ENSG00000148795 109 0 0 86 16 15.6863 PDCD11 0 genome.wustl.edu 37 10 105202143 105202143 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 105202143 105202143 T C SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.4881 p.A1627 0.929 smart_HAT pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 115 0 0 78 17 17.8947 GSTO2 0 genome.wustl.edu 37 10 106058929 106058929 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 106058929 106058929 A T SNP GSTO2 ENST00000338595 human ensembl 74_37 +1 known missense c.619 p.M207L 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega - no_errors GSTO2 HGNC ENSG00000065621 107 0 0 50 21 29.5775 SORCS3 0 genome.wustl.edu 37 10 106970996 106970996 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 106970996 106970996 T G SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2363 p.L788R 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 45 0 0 48 9 15.7895 DUSP5 0 genome.wustl.edu 37 10 112257917 112257917 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 112257917 112257917 A G SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known missense c.38 p.K13R 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 38 0 0 20 7 25.9259 DUSP5 0 genome.wustl.edu 37 10 112257929 112257929 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 112257929 112257929 A G SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known missense c.50 p.K17R 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 44 0 0 23 7 23.3333 ADRA2A 0 genome.wustl.edu 37 10 112838854 112838854 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 112838854 112838854 A G SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.1100 p.E367G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 23 0 0 11 4 26.6667 TDRD1 0 genome.wustl.edu 37 10 115959054 115959054 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 115959054 115959054 T G SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known silent c.507 p.T169 0.997 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 118 0 0 59 29 32.9545 AFAP1L2 0 genome.wustl.edu 37 10 116055820 116055820 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 116055820 116055820 T A SNP AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known missense c.2597 p.E866V 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 212 0 0 100 37 27.0073 PNLIP 0 genome.wustl.edu 37 10 118320982 118320982 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 118320982 118320982 A G SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known splice_site c.1170-2 e11-2 0.989 - - - no_errors PNLIP HGNC ENSG00000175535 64 0 0 43 16 27.1186 UPF2 0 genome.wustl.edu 37 10 12046600 12046600 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 12046600 12046600 A T SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.1433 p.V478D 1.000 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 61 0 0 46 7 13.2075 ZRANB1 0 genome.wustl.edu 37 10 126631424 126631424 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 126631424 126631424 A G SNP ZRANB1 ENST00000359653 human ensembl 74_37 +1 known missense c.362 p.Q121R 1.000 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 102 0 0 87 8 8.42105 C10orf137 0 genome.wustl.edu 37 10 127412388 127412388 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 127412388 127412388 A C SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.393 p.K131N 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 104 0 0 82 42 33.871 C10orf90 0 genome.wustl.edu 37 10 128202463 128202463 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 128202463 128202463 T G SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.359 p.K120T 0.843 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 117 0 0 84 32 27.5862 BNIP3 0 genome.wustl.edu 37 10 133787304 133787304 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 133787304 133787304 A C SNP BNIP3 ENST00000368636 human ensembl 74_37 -1 known missense c.190 p.C64G 1.000 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC ENSG00000176171 148 0 0 93 20 17.6991 NKX6-2 0 genome.wustl.edu 37 10 134598505 134598505 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 134598505 134598505 T G SNP NKX6-2 ENST00000368592 human ensembl 74_37 -1 known missense c.749 p.K250T 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 43 0 0 26 4 13.3333 ADARB2-AS1 0 genome.wustl.edu 37 10 1598970 1598970 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 1598970 1598970 T G SNP ADARB2-AS1 ENST00000421697 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADARB2-AS1 HGNC ENSG00000205696 70 0 0 36 11 23.4043 RSU1 0 genome.wustl.edu 37 10 16635430 16635430 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 16635430 16635430 T G SNP RSU1 ENST00000345264 human ensembl 74_37 -1 known missense c.797 p.K266T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors RSU1 HGNC ENSG00000148484 64 0 0 39 15 27.7778 CUBN 0 genome.wustl.edu 37 10 17113591 17113591 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 17113591 17113591 T G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.2459 p.E820A 0.000 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 71 0 0 60 7 10.4478 GPR158 0 genome.wustl.edu 37 10 25887698 25887698 + Missense_Mutation SNP C C A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 25887698 25887698 C A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3143 p.S1048Y 0.057 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 118 0 0 78 17 17.8947 GAD2 0 genome.wustl.edu 37 10 26559570 26559570 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 26559570 26559570 G A SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.977 p.G326E 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 184 0 0 109 23 17.4242 WAC 0 genome.wustl.edu 37 10 28899749 28899749 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 28899749 28899749 A C SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.1287 p.Q429H 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 125 0 0 109 12 9.91736 KIF5B 0 genome.wustl.edu 37 10 32317437 32317437 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 32317437 32317437 T C SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known silent c.1644 p.K548 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 89 0 0 68 12 15 FZD8 0 genome.wustl.edu 37 10 35930201 35930201 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 35930201 35930201 T C SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known missense c.157 p.M53V 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 53 0 0 38 10 20.8333 ENSG00000234864 0 genome.wustl.edu 37 10 43199520 43199520 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 43199520 43199520 A C SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 66 0 0 33 12 26.6667 BMS1 0 genome.wustl.edu 37 10 43312891 43312891 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 43312891 43312891 A G SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known silent c.2529 p.G843 1.000 pfam_BMS1_TSR1_C pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 75 0 0 55 18 24.6575 OR13A1 0 genome.wustl.edu 37 10 45799853 45799853 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 45799853 45799853 C T SNP OR13A1 ENST00000374401 human ensembl 74_37 -1 known silent c.18 p.E6 0.686 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 103 0 0 73 22 23.1579 RBP3 0 genome.wustl.edu 37 10 48385883 48385883 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 48385883 48385883 T G SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.3209 p.K1070T 1.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 140 0 0 71 36 33.6449 ERCC6 0 genome.wustl.edu 37 10 50678232 50678232 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 50678232 50678232 T G SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.3774 p.K1258N 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 ERCC6 HGNC ENSG00000225830 243 1 0.409836 203 23 10.177 FBXO18 0 genome.wustl.edu 37 10 5957404 5957404 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 5957404 5957404 A C SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.1588 p.K530Q 1.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 54 0 0 37 15 28.8462 RHOBTB1 0 genome.wustl.edu 37 10 62648482 62648482 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 62648482 62648482 T A SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known missense c.944 p.K315M 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 111 0 0 89 15 14.4231 PRKCQ 0 genome.wustl.edu 37 10 6540451 6540451 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 6540451 6540451 T C SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.449 p.K150R 1.000 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 81 0 0 50 26 34.2105 HERC4 0 genome.wustl.edu 37 10 69748461 69748461 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 69748461 69748461 A C SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.1765 p.F589V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 151 0 0 122 11 8.27068 RUFY2 0 genome.wustl.edu 37 10 70139223 70139223 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 70139223 70139223 T G SNP RUFY2 ENST00000388768 human ensembl 74_37 -1 known missense c.1268 p.K423T 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 73 0 0 49 10 16.9492 CDH23 0 genome.wustl.edu 37 10 73548718 73548718 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 73548718 73548718 T G SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5857 p.F1953V 0.954 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 67 0 0 31 9 22.5 AP3M1 0 genome.wustl.edu 37 10 75884219 75884219 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 75884219 75884219 T G SNP AP3M1 ENST00000355264 human ensembl 74_37 -1 known missense c.1075 p.N359H 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C 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 AP3M1 HGNC ENSG00000185009 81 0 0 63 9 12.5 KCNMA1 0 genome.wustl.edu 37 10 78943197 78943197 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 78943197 78943197 A C SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.790 p.L264V 1.000 pfam_Ion_trans_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 47 0 0 38 11 22.449 ZMIZ1 0 genome.wustl.edu 37 10 81060527 81060527 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 81060527 81060527 A G SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.1847 p.E616G 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 47 0 0 40 3 6.97674 MINPP1 0 genome.wustl.edu 37 10 89272956 89272956 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 89272956 89272956 T A SNP MINPP1 ENST00000371996 human ensembl 74_37 +1 known missense c.911 p.V304D 1.000 pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 76 0 0 74 6 7.5 LIPJ 0 genome.wustl.edu 37 10 90356123 90356123 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 90356123 90356123 T G SNP LIPJ ENST00000371939 human ensembl 74_37 +1 known missense c.526 p.L176V 0.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 46 0 0 30 8 21.0526 LIPF 0 genome.wustl.edu 37 10 90428495 90428495 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 90428495 90428495 T A SNP LIPF ENST00000394375 human ensembl 74_37 +1 known missense c.434 p.V145D 0.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 42 0 0 30 4 11.7647 IFIT5 0 genome.wustl.edu 37 10 91177197 91177197 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 91177197 91177197 A C SNP IFIT5 ENST00000371795 human ensembl 74_37 +1 known missense c.241 p.I81L 0.288 smart_TPR_repeat pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT5 HGNC ENSG00000152778 61 0 0 68 4 5.55556 HTR7 0 genome.wustl.edu 37 10 92508893 92508893 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 92508893 92508893 A G SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known missense c.998 p.V333A 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 66 0 0 52 14 21.2121 BTAF1 0 genome.wustl.edu 37 10 93741866 93741866 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 93741866 93741866 A T SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.1932 p.Q644H 0.994 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 55 0 0 59 10 14.4928 FFAR4 0 genome.wustl.edu 37 10 95326534 95326534 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 95326534 95326534 A C SNP FFAR4 ENST00000371483 human ensembl 74_37 +1 known missense c.57 p.Q19H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors FFAR4 HGNC ENSG00000186188 22 0 0 16 4 20 TM9SF3 0 genome.wustl.edu 37 10 98303924 98303924 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 98303924 98303924 A C SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known missense c.1094 p.L365R 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 62 0 0 54 15 21.7391 SLIT1 0 genome.wustl.edu 37 10 98806540 98806540 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 98806540 98806540 T C SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.1724 p.N575S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp 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 81 0 0 46 8 14.8148 TRPC6 0 genome.wustl.edu 37 11 101375353 101375353 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 101375353 101375353 T G SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.347 p.K116T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_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_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 131 0 0 129 38 22.7545 ENSG00000254506 0 genome.wustl.edu 37 11 101465542 101465542 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 101465542 101465542 A C SNP ENSG00000254506 ENST00000527374 human ensembl 74_37 +1 known rna NULL NULL 0.925 - - - no_errors RP11-748H22.1 Clone_based_vega_gene ENSG00000254506 25 0 0 29 7 19.4444 C11orf70 0 genome.wustl.edu 37 11 101953825 101953825 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 101953825 101953825 T G SNP C11orf70 ENST00000434758 human ensembl 74_37 +1 known silent c.699 p.P233 0.997 NULL NULL - no_errors C11orf70 HGNC ENSG00000137691 114 0 0 113 19 14.3939 MMP27 0 genome.wustl.edu 37 11 102567157 102567157 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 102567157 102567157 A G SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known silent c.847 p.L283 0.158 superfamily_Hemopexin-like_dom,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 95 0 0 92 27 22.6891 MMP27 0 genome.wustl.edu 37 11 102573756 102573756 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 102573756 102573756 T G SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known missense c.435 p.K145N 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 131 0 0 154 34 18.0851 MMP12 0 genome.wustl.edu 37 11 102742578 102742578 + RNA SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 102742578 102742578 A T SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors MMP12 HGNC ENSG00000110347 25 0 0 24 4 14.2857 DYNC2H1 0 genome.wustl.edu 37 11 103058252 103058252 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 103058252 103058252 A C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.7077 p.K2359N 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 79 0 0 99 20 16.8067 CARD17 0 genome.wustl.edu 37 11 104971470 104971470 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 104971470 104971470 C T SNP CARD17 ENST00000375707 human ensembl 74_37 -1 known missense c.44 p.R15H 0.000 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD17 HGNC ENSG00000255221 243 0 0 256 26 9.21986 MRVI1 0 genome.wustl.edu 37 11 10622466 10622466 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 10622466 10622466 A T SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known silent c.1989 p.S663 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 88 0 0 53 8 13.1148 EXPH5 0 genome.wustl.edu 37 11 108380425 108380425 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 108380425 108380425 T C SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.5809 p.S1937G 0.011 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 111 0 0 101 26 20.4724 DDX10 0 genome.wustl.edu 37 11 108559688 108559688 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 108559688 108559688 T G SNP DDX10 ENST00000322536 human ensembl 74_37 +1 known missense c.874 p.Y292D 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 171 0 0 193 17 8.09524 C11orf88 0 genome.wustl.edu 37 11 111405169 111405169 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 111405169 111405169 A C SNP C11orf88 ENST00000529167 human ensembl 74_37 +1 known missense c.513 p.K171N 0.038 NULL NULL - no_errors C11orf88 HGNC ENSG00000183644 75 0 0 81 14 14.7368 LAYN 0 genome.wustl.edu 37 11 111431129 111431129 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 111431129 111431129 A C SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.1095 p.Q365H 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 91 0 0 86 10 10.4167 DIXDC1 0 genome.wustl.edu 37 11 111856042 111856042 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 111856042 111856042 A C SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known missense c.1002 p.Q334H 0.988 NULL pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 31 0 0 33 4 10.8108 NXPE1 0 genome.wustl.edu 37 11 114392898 114392898 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 114392898 114392898 T G SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.1436 p.N479T 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 108 0 0 75 67 47.1831 APOA1 0 genome.wustl.edu 37 11 116706799 116706799 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 116706799 116706799 G A SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known missense c.529 p.R177C 0.042 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 38 0 0 15 21 58.3333 SIDT2 0 genome.wustl.edu 37 11 117060709 117060709 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 117060709 117060709 C T SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known silent c.1524 p.N508 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 99 0 0 79 5 5.95238 DSCAML1 0 genome.wustl.edu 37 11 117389449 117389449 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 117389449 117389449 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.1422 p.F474 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 47 0 0 31 3 8.82353 DSCAML1 0 genome.wustl.edu 37 11 117391952 117391952 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 117391952 117391952 T A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.1286 p.E429V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 180 0 0 119 37 23.7179 ENSG00000254844 0 genome.wustl.edu 37 11 117691429 117691429 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 117691429 117691429 A C SNP ENSG00000254844 ENST00000531850 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-728F11.3 Clone_based_vega_gene ENSG00000254844 71 0 0 55 16 22.5352 TBCEL 0 genome.wustl.edu 37 11 120957516 120957516 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 120957516 120957516 A C SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known missense c.986 p.K329T 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 47 0 0 35 12 25.5319 TECTA 0 genome.wustl.edu 37 11 121039448 121039448 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 121039448 121039448 A G SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.5813 p.K1938R 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 154 1 0.645161 112 40 26.3158 OR6T1 0 genome.wustl.edu 37 11 123814347 123814347 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 123814347 123814347 A G SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known missense c.199 p.S67P 0.227 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 OR6T1 HGNC ENSG00000181499 142 0 0 143 34 19.209 OR8G5 0 genome.wustl.edu 37 11 124134872 124134872 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 124134872 124134872 T G SNP OR8G5 ENST00000524943 human ensembl 74_37 +1 known silent c.150 p.V50 0.523 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G5 HGNC ENSG00000255298 69 0 0 66 4 5.71429 SLC37A2 0 genome.wustl.edu 37 11 124952150 124952150 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 124952150 124952150 A G SNP SLC37A2 ENST00000308074 human ensembl 74_37 +1 known missense c.896 p.E299G 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 135 0 0 151 8 5.03145 HYLS1 0 genome.wustl.edu 37 11 125769999 125769999 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 125769999 125769999 C T SNP HYLS1 ENST00000356438 human ensembl 74_37 +1 known missense c.736 p.L246F 0.999 NULL NULL - no_errors HYLS1 HGNC ENSG00000198331 95 0 0 68 16 19.0476 ARHGAP32 0 genome.wustl.edu 37 11 128842931 128842931 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 128842931 128842931 T C SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.3428 p.H1143R 0.021 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 264 0 0 272 22 7.48299 BARX2 0 genome.wustl.edu 37 11 129321257 129321257 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 129321257 129321257 A C SNP BARX2 ENST00000281437 human ensembl 74_37 +1 known missense c.800 p.E267A 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors BARX2 HGNC ENSG00000043039 100 0 0 88 22 20 TMEM45B 0 genome.wustl.edu 37 11 129727278 129727278 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 129727278 129727278 T G SNP TMEM45B ENST00000281441 human ensembl 74_37 +1 known missense c.641 p.F214C 1.000 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TMEM45B HGNC ENSG00000151715 146 0 0 146 17 10.4294 ZBTB44 0 genome.wustl.edu 37 11 130131610 130131610 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 130131610 130131610 A C SNP ZBTB44 ENST00000357899 human ensembl 74_37 -1 known missense c.159 p.S53R 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 ZBTB44 HGNC ENSG00000196323 140 0 0 129 18 12.2449 ARNTL 0 genome.wustl.edu 37 11 13388329 13388329 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 13388329 13388329 A T SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known missense c.670 p.T224S 1.000 pfam_PAS_fold,superfamily_PAS pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 72 0 0 47 8 14.5455 NCAPD3 0 genome.wustl.edu 37 11 134026966 134026966 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 134026966 134026966 T C SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.4199 p.E1400G 0.931 pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 138 1 0.719424 154 9 5.52147 ENSG00000255470 0 genome.wustl.edu 37 11 18210593 18210593 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 18210593 18210593 A C SNP ENSG00000255470 ENST00000527671 human ensembl 74_37 -1 novel missense c.325 p.L109V 0.986 NULL NULL - no_errors RP11-113D6.6 Clone_based_vega_gene ENSG00000255470 35 0 0 26 4 13.3333 UEVLD 0 genome.wustl.edu 37 11 18553752 18553752 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 18553752 18553752 A C SNP UEVLD ENST00000540666 human ensembl 74_37 -1 known rna NULL NULL 0.882 - - - no_errors UEVLD HGNC ENSG00000151116 23 0 0 33 4 10.8108 SYT8 0 genome.wustl.edu 37 11 1857751 1857751 + Missense_Mutation SNP C C G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 1857751 1857751 C G SNP SYT8 ENST00000381968 human ensembl 74_37 +1 known missense c.655 p.P219A 0.069 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT8 HGNC ENSG00000149043 46 0 0 27 3 10 TNNT3 0 genome.wustl.edu 37 11 1955136 1955136 + RNA SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 1955136 1955136 A G SNP TNNT3 ENST00000493234 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TNNT3 HGNC ENSG00000130595 62 0 0 26 12 31.5789 NAV2 0 genome.wustl.edu 37 11 19955499 19955499 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 19955499 19955499 A T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.1778 p.K593I 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 98 0 0 83 15 15.3061 SLC17A6 0 genome.wustl.edu 37 11 22396414 22396414 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 22396414 22396414 A T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1155 p.R385S 0.991 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 236 1 0.421941 218 35 13.834 SLC5A12 0 genome.wustl.edu 37 11 26725161 26725161 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 26725161 26725161 A C SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known silent c.738 p.T246 0.583 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 136 0 0 124 7 5.34351 BDNF 0 genome.wustl.edu 37 11 27679542 27679542 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 27679542 27679542 A C SNP BDNF ENST00000438929 human ensembl 74_37 -1 known silent c.816 p.G272 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 237 0 0 138 52 27.3684 BDNF 0 genome.wustl.edu 37 11 27679792 27679792 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 27679792 27679792 A G SNP BDNF ENST00000438929 human ensembl 74_37 -1 known missense c.566 p.L189P 1.000 prints_Brain-der_neurotrophic_factor pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 103 0 0 63 28 30.7692 WT1-AS 0 genome.wustl.edu 37 11 32460413 32460413 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 32460413 32460413 T G SNP WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors WT1-AS HGNC ENSG00000183242 22 0 0 25 5 16.6667 PAMR1 0 genome.wustl.edu 37 11 35547122 35547122 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 35547122 35547122 A G SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known silent c.12 p.G4 0.620 NULL 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 28 0 0 18 5 21.7391 ART5 0 genome.wustl.edu 37 11 3660051 3660051 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 3660051 3660051 G A SNP ART5 ENST00000397067 human ensembl 74_37 -1 known missense c.715 p.P239S 0.785 NULL pfam_ART,prints_ART - no_errors ART5 HGNC ENSG00000167311 65 0 0 50 5 9.09091 NUP98 0 genome.wustl.edu 37 11 3712682 3712682 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 3712682 3712682 A C SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.4349 p.L1450R 1.000 pfam_Nup96 pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 69 0 0 51 17 25 SYT13 0 genome.wustl.edu 37 11 45265838 45265838 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 45265838 45265838 T G SNP SYT13 ENST00000020926 human ensembl 74_37 -1 known missense c.1046 p.K349T 1.000 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 SYT13 HGNC ENSG00000019505 67 0 0 45 10 18.1818 AGBL2 0 genome.wustl.edu 37 11 47689161 47689161 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 47689161 47689161 T G SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.2308 p.N770H 0.000 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 88 0 0 61 8 11.5942 OR51A4 0 genome.wustl.edu 37 11 4967444 4967444 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 4967444 4967444 T C SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.887 p.K296R 0.280 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 126 0 0 100 28 21.875 OR51L1 0 genome.wustl.edu 37 11 5020534 5020534 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 5020534 5020534 A G SNP OR51L1 ENST00000321543 human ensembl 74_37 +1 known missense c.322 p.T108A 0.138 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 185 0 0 116 44 27.5 OR51L1 0 genome.wustl.edu 37 11 5021063 5021063 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 5021063 5021063 T C SNP OR51L1 ENST00000321543 human ensembl 74_37 +1 known missense c.851 p.L284P 0.998 pfam_GPCR_Rhodpsn,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 95 0 0 71 23 24.4681 OR51V1 0 genome.wustl.edu 37 11 5220987 5220987 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 5220987 5220987 A G SNP OR51V1 ENST00000321255 human ensembl 74_37 -1 known missense c.944 p.L315P 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51V1 HGNC ENSG00000176742 61 0 0 33 12 26.6667 OR51Q1 0 genome.wustl.edu 37 11 5444107 5444107 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 5444107 5444107 A C SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.677 p.N226T 0.000 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 OR51Q1 HGNC ENSG00000167360 140 0 0 89 35 28.2258 OR51I2 0 genome.wustl.edu 37 11 5475026 5475026 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 5475026 5475026 T G SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known missense c.308 p.L103R 0.995 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 OR51I2 HGNC ENSG00000187918 175 0 0 86 28 24.5614 OR5D13 0 genome.wustl.edu 37 11 55541717 55541717 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 55541717 55541717 T G SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known silent c.804 p.T268 0.090 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 91 0 0 49 8 14.0351 OR5D16 0 genome.wustl.edu 37 11 55606614 55606614 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 55606614 55606614 C T SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known silent c.387 p.C129 0.963 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 148 0 0 92 28 23.3333 TRIM51 0 genome.wustl.edu 37 11 55658772 55658772 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 55658772 55658772 T C SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known silent c.1023 p.Y341 0.996 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 161 0 0 109 31 22.1429 OR5M11 0 genome.wustl.edu 37 11 56309940 56309940 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 56309940 56309940 T G SNP OR5M11 ENST00000528616 human ensembl 74_37 -1 known missense c.794 p.K265T 0.686 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 90 0 0 50 30 37.5 MIR130A 0 genome.wustl.edu 37 11 57408677 57408677 + RNA SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 57408677 57408677 T C SNP MIR130A ENST00000385274 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors MIR130A HGNC ENSG00000208009 10 0 0 11 3 21.4286 OR1S2 0 genome.wustl.edu 37 11 57971212 57971212 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 57971212 57971212 A C SNP OR1S2 ENST00000302592 human ensembl 74_37 -1 known missense c.442 p.F148V 0.006 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 OR1S2 HGNC ENSG00000197887 184 0 0 161 27 14.3617 OR52E6 0 genome.wustl.edu 37 11 5862229 5862229 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 5862229 5862229 A C SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known missense c.911 p.I304S 0.973 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 96 0 0 50 31 38.2716 OR4D10 0 genome.wustl.edu 37 11 59244981 59244981 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 59244981 59244981 T G SNP OR4D10 ENST00000530162 human ensembl 74_37 +1 known missense c.79 p.L27V 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 122 0 0 129 9 6.52174 PATL1 0 genome.wustl.edu 37 11 59410351 59410351 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 59410351 59410351 A G SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known splice_site c.2049+2 e16+2 0.999 - - - no_errors PATL1 HGNC ENSG00000166889 208 0 0 157 22 12.2905 MS4A7 0 genome.wustl.edu 37 11 60152695 60152695 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 60152695 60152695 T C SNP MS4A7 ENST00000300184 human ensembl 74_37 +1 known silent c.282 p.C94 0.999 pfam_CD20-like pfam_CD20-like - no_errors MS4A7 HGNC ENSG00000166927 178 0 0 123 18 12.766 OR56A4 0 genome.wustl.edu 37 11 6024227 6024227 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 6024227 6024227 A T SNP OR56A4 ENST00000330728 human ensembl 74_37 -1 known missense c.152 p.L51H 0.022 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 89 0 0 46 21 31.3433 AHNAK 0 genome.wustl.edu 37 11 62286461 62286461 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 62286461 62286461 A C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.15428 p.V5143G 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 60 0 0 49 8 14.0351 SLC22A9 0 genome.wustl.edu 37 11 63175638 63175638 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 63175638 63175638 T C SNP SLC22A9 ENST00000279178 human ensembl 74_37 +1 known missense c.1343 p.L448P 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 50 0 0 44 10 18.5185 SLC22A9 0 genome.wustl.edu 37 11 63177296 63177296 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 63177296 63177296 A C SNP SLC22A9 ENST00000279178 human ensembl 74_37 +1 known missense c.1624 p.K542Q 0.025 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 30 0 0 45 6 11.7647 RTN3 0 genome.wustl.edu 37 11 63487765 63487765 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 63487765 63487765 A C SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.1791 p.E597D 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 152 0 0 101 33 24.6269 RELA 0 genome.wustl.edu 37 11 65425909 65425909 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 65425909 65425909 A G SNP RELA ENST00000406246 human ensembl 74_37 -1 known silent c.726 p.A242 0.032 superfamily_Ig_E-set,smart_IPT,prints_NF_Rel_Dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 28 0 0 27 2 6.89655 CATSPER1 0 genome.wustl.edu 37 11 65792743 65792743 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 65792743 65792743 T C SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.1108 p.I370V 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 77 0 0 49 16 24.6154 B3GNT1 0 genome.wustl.edu 37 11 66113626 66113626 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 66113626 66113626 T G SNP B3GNT1 ENST00000311181 human ensembl 74_37 -1 known missense c.1142 p.K381T 0.970 NULL NULL - no_errors B3GNT1 HGNC ENSG00000174684 162 0 0 106 35 24.8227 CTSF 0 genome.wustl.edu 37 11 66333365 66333365 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 66333365 66333365 T A SNP CTSF ENST00000310325 human ensembl 74_37 -1 known missense c.901 p.T301S 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 80 0 0 61 7 10.2941 ALDH3B1 0 genome.wustl.edu 37 11 67789236 67789236 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 67789236 67789236 T G SNP ALDH3B1 ENST00000007633 human ensembl 74_37 +1 known missense c.842 p.L281R 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3B1 HGNC ENSG00000006534 196 0 0 183 19 9.40594 OR10A4 0 genome.wustl.edu 37 11 6898191 6898191 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 6898191 6898191 T A SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known missense c.313 p.F105I 1.000 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 OR10A4 HGNC ENSG00000170782 135 0 0 92 30 24.5902 PPFIA1 0 genome.wustl.edu 37 11 70221146 70221146 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 70221146 70221146 T G SNP PPFIA1 ENST00000253925 human ensembl 74_37 +1 known missense c.3262 p.F1088V 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 50 0 0 40 9 18.3673 CTTN 0 genome.wustl.edu 37 11 70279801 70279801 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 70279801 70279801 T C SNP CTTN ENST00000301843 human ensembl 74_37 +1 known missense c.1493 p.V498A 0.997 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 105 0 0 97 13 11.8182 NLRP14 0 genome.wustl.edu 37 11 7060994 7060994 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 7060994 7060994 A C SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.339 p.Q113H 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 NLRP14 HGNC ENSG00000158077 136 0 0 96 38 28.3582 KRTAP5-9 0 genome.wustl.edu 37 11 71260091 71260091 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 71260091 71260091 T G SNP KRTAP5-9 ENST00000528743 human ensembl 74_37 +1 known missense c.388 p.C130G 0.999 NULL NULL - no_errors KRTAP5-9 HGNC ENSG00000254997 266 0 0 218 60 21.5827 FOLR3 0 genome.wustl.edu 37 11 71850819 71850819 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 71850819 71850819 T G SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known missense c.808 p.F270V 0.938 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 46 0 0 50 10 16.6667 C2CD3 0 genome.wustl.edu 37 11 73785595 73785595 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 73785595 73785595 A C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.4654 p.L1552V 0.954 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 55 0 0 44 4 8.33333 P4HA3 0 genome.wustl.edu 37 11 73996867 73996867 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 73996867 73996867 A G SNP P4HA3 ENST00000331597 human ensembl 74_37 -1 known missense c.1097 p.L366P 0.241 smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 158 0 0 152 38 20 PGM2L1 0 genome.wustl.edu 37 11 74058298 74058298 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 74058298 74058298 T C SNP PGM2L1 ENST00000298198 human ensembl 74_37 -1 known silent c.834 p.K278 0.993 pfam_A-D-PHexomutase_a/b/a-II,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-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC ENSG00000165434 66 0 0 70 13 15.6627 PGM2L1 0 genome.wustl.edu 37 11 74085565 74085565 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 74085565 74085565 T A SNP PGM2L1 ENST00000298198 human ensembl 74_37 -1 known silent c.174 p.R58 0.951 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-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC ENSG00000165434 88 0 0 76 5 6.17284 SYT9 0 genome.wustl.edu 37 11 7439233 7439233 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 7439233 7439233 A G SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known missense c.1211 p.K404R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 77 0 0 58 21 26.5823 NEU3 0 genome.wustl.edu 37 11 74717517 74717517 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 74717517 74717517 A G SNP NEU3 ENST00000294064 human ensembl 74_37 +1 known missense c.1366 p.S456G 0.001 NULL superfamily_Sialidases - no_errors NEU3 HGNC ENSG00000162139 163 0 0 119 10 7.75194 OLFML1 0 genome.wustl.edu 37 11 7509423 7509423 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 7509423 7509423 A T SNP OLFML1 ENST00000329293 human ensembl 74_37 +1 known missense c.195 p.K65N 0.998 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML1 HGNC ENSG00000183801 64 0 0 62 9 12.6761 MYO7A 0 genome.wustl.edu 37 11 76917198 76917198 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 76917198 76917198 A T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.5693 p.K1898M 1.000 smart_Band_41_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 28 0 0 17 3 15 CLNS1A 0 genome.wustl.edu 37 11 77336835 77336835 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 77336835 77336835 T G SNP CLNS1A ENST00000525428 human ensembl 74_37 -1 known missense c.291 p.E97D 1.000 NULL prints_ICln_channel - no_errors CLNS1A HGNC ENSG00000074201 26 0 0 29 3 9.375 TENM4 0 genome.wustl.edu 37 11 78380755 78380755 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 78380755 78380755 A G SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.6635 p.L2212P 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 105 0 0 94 29 23.5772 TENM4 0 genome.wustl.edu 37 11 78381295 78381295 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 78381295 78381295 A C SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.6095 p.F2032C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 49 0 0 26 8 23.5294 TENM4 0 genome.wustl.edu 37 11 78413446 78413446 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 78413446 78413446 A C SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.4212 p.V1404 0.998 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 131 0 0 107 14 11.5702 CCDC81 0 genome.wustl.edu 37 11 86111788 86111788 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 86111788 86111788 T A SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known missense c.826 p.L276M 0.001 NULL superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 123 0 0 160 13 7.51445 FAT3 0 genome.wustl.edu 37 11 92088050 92088050 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 92088050 92088050 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.2772 p.V924 0.021 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 140 0 0 125 35 21.875 PIWIL4 0 genome.wustl.edu 37 11 94308224 94308224 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 94308224 94308224 A C SNP PIWIL4 ENST00000299001 human ensembl 74_37 +1 known missense c.226 p.N76H 0.000 NULL pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 92 0 0 88 9 9.27835 IPO7 0 genome.wustl.edu 37 11 9431549 9431549 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 9431549 9431549 A T SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.395 p.K132I 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 107 0 0 76 12 13.6364 IPO7 0 genome.wustl.edu 37 11 9446534 9446534 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 9446534 9446534 A T SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.1215 p.K405N 1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 85 0 0 54 16 22.8571 ZNF143 0 genome.wustl.edu 37 11 9522759 9522759 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 9522759 9522759 A C SNP ZNF143 ENST00000396602 human ensembl 74_37 +1 known silent c.1089 p.G363 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 143 0 0 123 8 6.10687 WNK1 0 genome.wustl.edu 37 12 1005569 1005569 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 1005569 1005569 A T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.7410 p.K2470N 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 156 0 0 114 28 19.7183 ARL1 0 genome.wustl.edu 37 12 101790343 101790343 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 101790343 101790343 T C SNP ARL1 ENST00000261636 human ensembl 74_37 -1 known missense c.349 p.R117G 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL1 HGNC ENSG00000120805 129 0 0 132 16 10.8108 GNPTAB 0 genome.wustl.edu 37 12 102174027 102174027 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 102174027 102174027 T C SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.674 p.Q225R 0.989 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 92 0 0 87 10 10.3093 PARPBP 0 genome.wustl.edu 37 12 102572378 102572378 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 102572378 102572378 T C SNP PARPBP ENST00000358383 human ensembl 74_37 +1 known silent c.1014 p.S338 0.345 NULL superfamily_P-loop_NTPase - no_errors PARPBP HGNC ENSG00000185480 47 0 0 38 9 19.1489 ASCL1 0 genome.wustl.edu 37 12 103352261 103352261 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 103352261 103352261 A G SNP ASCL1 ENST00000266744 human ensembl 74_37 +1 known missense c.239 p.K80R 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL1 HGNC ENSG00000139352 10 0 0 11 3 21.4286 ACACB 0 genome.wustl.edu 37 12 109577503 109577503 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 109577503 109577503 A G SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.293 p.K98R 0.530 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 207 0 0 162 54 25 ACACB 0 genome.wustl.edu 37 12 109644623 109644623 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 109644623 109644623 A T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.3022 p.S1008C 0.994 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 142 0 0 113 31 21.5278 UBE3B 0 genome.wustl.edu 37 12 109959331 109959331 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 109959331 109959331 A C SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.2339 p.K780T 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 51 0 0 65 11 14.4737 MVK 0 genome.wustl.edu 37 12 110028611 110028611 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 110028611 110028611 A C SNP MVK ENST00000228510 human ensembl 74_37 +1 known missense c.713 p.K238T 1.000 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 89 0 0 63 4 5.97015 TAS2R50 0 genome.wustl.edu 37 12 11139032 11139032 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 11139032 11139032 T C SNP TAS2R50 ENST00000506868 human ensembl 74_37 -1 known missense c.428 p.H143R 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 233 0 0 100 60 37.5 OAS1 0 genome.wustl.edu 37 12 113346442 113346442 + Silent SNP C C G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 113346442 113346442 C G SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known silent c.282 p.R94 0.041 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 62 0 0 79 7 8.13953 C12orf49 0 genome.wustl.edu 37 12 117160952 117160952 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 117160952 117160952 A C SNP C12orf49 ENST00000261318 human ensembl 74_37 -1 known missense c.188 p.F63C 1.000 NULL pfam_UPF0454 - no_errors C12orf49 HGNC ENSG00000111412 70 0 0 80 8 9.09091 NOS1 0 genome.wustl.edu 37 12 117696841 117696841 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 117696841 117696841 T C SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.2462 p.E821G 1.000 pfam_Flavodoxin/NO_synth,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth 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 64 0 0 59 5 7.8125 WSB2 0 genome.wustl.edu 37 12 118476183 118476183 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 118476183 118476183 A C SNP WSB2 ENST00000315436 human ensembl 74_37 -1 known missense c.570 p.I190M 0.463 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB2 HGNC ENSG00000176871 52 0 0 59 7 10.6061 CIT 0 genome.wustl.edu 37 12 120214531 120214531 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 120214531 120214531 A C SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.1781 p.L594R 0.950 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 110 0 0 104 7 6.30631 GCN1L1 0 genome.wustl.edu 37 12 120602204 120602204 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 120602204 120602204 A C SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.1784 p.L595R 0.988 pfam_DUF3554,superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 204 0 0 143 48 25.1309 RSRC2 0 genome.wustl.edu 37 12 122990116 122990116 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 122990116 122990116 A G SNP RSRC2 ENST00000331738 human ensembl 74_37 -1 known silent c.1263 p.G421 0.963 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 96 0 0 101 16 13.6752 DNAH10 0 genome.wustl.edu 37 12 124350506 124350506 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 124350506 124350506 T A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6699 p.D2233E 0.991 pfam_ATPase_dyneun-rel_AAA,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,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 81 0 0 81 6 6.89655 DNAH10 0 genome.wustl.edu 37 12 124359938 124359938 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 124359938 124359938 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.7745 p.D2582G 1.000 pfam_ATPase_dyneun-rel_AAA,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,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 45 0 0 45 13 22.4138 DUSP16 0 genome.wustl.edu 37 12 12640054 12640054 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 12640054 12640054 A C SNP DUSP16 ENST00000228862 human ensembl 74_37 -1 known missense c.599 p.F200C 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 141 0 0 86 5 5.49451 GPR19 0 genome.wustl.edu 37 12 12814254 12814254 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 12814254 12814254 T G SNP GPR19 ENST00000332427 human ensembl 74_37 -1 known missense c.1129 p.I377L 0.912 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 133 0 0 82 9 9.89011 GPR19 0 genome.wustl.edu 37 12 12814276 12814276 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 12814276 12814276 T G SNP GPR19 ENST00000332427 human ensembl 74_37 -1 known missense c.1107 p.K369N 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 138 0 0 90 7 7.21649 ATF7IP 0 genome.wustl.edu 37 12 14649259 14649259 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 14649259 14649259 A C SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known silent c.3375 p.R1125 0.882 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 48 0 0 47 5 9.61538 PLBD1 0 genome.wustl.edu 37 12 14706297 14706297 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 14706297 14706297 T G SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.165 p.Q55H 0.029 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 108 0 0 80 28 25.9259 STRAP 0 genome.wustl.edu 37 12 16055855 16055855 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 16055855 16055855 A C SNP STRAP ENST00000025399 human ensembl 74_37 +1 known missense c.1035 p.E345D 0.992 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRAP HGNC ENSG00000023734 55 0 0 48 7 12.7273 ADIPOR2 0 genome.wustl.edu 37 12 1893087 1893087 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 1893087 1893087 T G SNP ADIPOR2 ENST00000357103 human ensembl 74_37 +1 known missense c.880 p.L294V 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 71 0 0 48 11 18.6441 PLEKHA5 0 genome.wustl.edu 37 12 19501386 19501386 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 19501386 19501386 A C SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.2643 p.E881D 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 110 0 0 80 21 20.7921 RECQL 0 genome.wustl.edu 37 12 21628511 21628511 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 21628511 21628511 C T SNP RECQL ENST00000421138 human ensembl 74_37 -1 known silent c.1107 p.V369 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 52 0 0 71 8 10.1266 LINC00477 0 genome.wustl.edu 37 12 24736739 24736739 + RNA SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 24736739 24736739 A G SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.135 - - - no_errors LINC00477 HGNC ENSG00000197503 56 0 0 42 23 35.3846 ITPR2 0 genome.wustl.edu 37 12 26640027 26640027 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 26640027 26640027 A G SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.5528 p.L1843S 0.000 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 142 0 0 109 28 20.438 ITFG2 0 genome.wustl.edu 37 12 2930009 2930009 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 2930009 2930009 T A SNP ITFG2 ENST00000228799 human ensembl 74_37 +1 known silent c.666 p.P222 0.000 superfamily_WD40_repeat_dom pfam_FG-GAP,superfamily_WD40_repeat_dom - no_errors ITFG2 HGNC ENSG00000111203 67 0 0 26 9 25.7143 FGD4 0 genome.wustl.edu 37 12 32778593 32778593 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 32778593 32778593 T C SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known silent c.1641 p.A547 0.946 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 74 0 0 71 13 15.4762 FGD4 0 genome.wustl.edu 37 12 32778598 32778598 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 32778598 32778598 T C SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known missense c.1646 p.L549P 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 77 0 0 82 14 14.5833 CNTN1 0 genome.wustl.edu 37 12 41327555 41327555 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 41327555 41327555 A C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.860 p.E287A 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 92 0 0 91 10 9.90099 CNTN1 0 genome.wustl.edu 37 12 41421690 41421690 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 41421690 41421690 A C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known silent c.2742 p.S914 0.002 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 57 0 0 57 28 32.9412 TWF1 0 genome.wustl.edu 37 12 44191514 44191514 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 44191514 44191514 C T SNP TWF1 ENST00000325127 human ensembl 74_37 -1 known silent c.708 p.Q236 0.993 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF1 HGNC ENSG00000151239 117 0 0 111 10 8.26446 KDM5A 0 genome.wustl.edu 37 12 461399 461399 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 461399 461399 T C SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.1121 p.K374R 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 80 0 0 69 13 15.8537 HDAC7 0 genome.wustl.edu 37 12 48183070 48183070 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 48183070 48183070 C T SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known missense c.2260 p.A754T 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 186 0 0 158 15 8.67052 OR10AD1 0 genome.wustl.edu 37 12 48596600 48596600 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 48596600 48596600 A C SNP OR10AD1 ENST00000310248 human ensembl 74_37 -1 known missense c.476 p.F159C 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AD1 HGNC ENSG00000172640 40 0 0 31 4 11.4286 OR10AD1 0 genome.wustl.edu 37 12 48597066 48597066 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 48597066 48597066 T C SNP OR10AD1 ENST00000310248 human ensembl 74_37 -1 known missense c.10 p.N4D 0.199 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AD1 HGNC ENSG00000172640 58 0 0 75 5 6.25 KMT2D 0 genome.wustl.edu 37 12 49444192 49444192 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 49444192 49444192 T G SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.3179 p.K1060T 0.292 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 41 0 0 28 4 12.5 FMNL3 0 genome.wustl.edu 37 12 50050607 50050607 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 50050607 50050607 T G SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known silent c.790 p.R264 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 82 0 0 84 8 8.69565 RACGAP1 0 genome.wustl.edu 37 12 50388012 50388012 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 50388012 50388012 T C SNP RACGAP1 ENST00000312377 human ensembl 74_37 -1 known missense c.1241 p.D414G 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 179 0 0 181 14 7.17949 KRT6A 0 genome.wustl.edu 37 12 52884661 52884661 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 52884661 52884661 A G SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.893 p.L298P 0.998 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 95 0 0 98 9 8.41121 KRT8 0 genome.wustl.edu 37 12 53298699 53298699 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 53298699 53298699 G A SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.67 p.R23C 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 26 0 0 22 3 12 AAAS 0 genome.wustl.edu 37 12 53702131 53702131 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 53702131 53702131 A G SNP AAAS ENST00000209873 human ensembl 74_37 -1 known missense c.1184 p.L395P 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 118 0 0 69 37 34.9057 HOXC11 0 genome.wustl.edu 37 12 54369034 54369034 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 54369034 54369034 T C SNP HOXC11 ENST00000546378 human ensembl 74_37 +1 known missense c.752 p.F251S 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC11 HGNC ENSG00000123388 70 0 0 84 11 11.5789 NCKAP1L 0 genome.wustl.edu 37 12 54902229 54902229 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 54902229 54902229 A C SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known silent c.420 p.S140 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 251 0 0 266 30 10.1351 PDE1B 0 genome.wustl.edu 37 12 54970356 54970356 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 54970356 54970356 T G SNP PDE1B ENST00000243052 human ensembl 74_37 +1 known missense c.1378 p.F460V 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 69 0 0 26 29 52.7273 OR9K2 0 genome.wustl.edu 37 12 55524397 55524397 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 55524397 55524397 T G SNP OR9K2 ENST00000305377 human ensembl 74_37 +1 known missense c.845 p.F282C 0.916 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 183 0 0 140 51 26.7016 OR10A7 0 genome.wustl.edu 37 12 55615481 55615481 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 55615481 55615481 A C SNP OR10A7 ENST00000326258 human ensembl 74_37 +1 known missense c.673 p.I225L 0.418 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A7 HGNC ENSG00000179919 88 0 0 65 18 21.6867 OR6C68 0 genome.wustl.edu 37 12 55886425 55886425 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 55886425 55886425 A C SNP OR6C68 ENST00000379662 human ensembl 74_37 +1 known missense c.279 p.K93N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C68 HGNC ENSG00000205327 135 0 0 101 32 24.0602 ENSG00000212383 0 genome.wustl.edu 37 12 57255274 57255274 + RNA SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 57255274 57255274 T C SNP ENSG00000212383 ENST00000391081 human ensembl 74_37 +1 novel rna NULL NULL 0.109 - - - no_errors SNORA48 RFAM ENSG00000212383 52 0 0 41 9 18 ARHGAP9 0 genome.wustl.edu 37 12 57873165 57873165 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 57873165 57873165 T C SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.25 p.S9G 1.000 NULL 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 75 0 0 69 11 13.75 VWF 0 genome.wustl.edu 37 12 6103171 6103171 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 6103171 6103171 T A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.6455 p.K2152M 0.027 pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 73 0 0 43 15 25.8621 VWF 0 genome.wustl.edu 37 12 6125799 6125799 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 6125799 6125799 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.5194 p.V1732M 1.000 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 94 0 0 52 22 29.7297 VWF 0 genome.wustl.edu 37 12 6128379 6128379 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 6128379 6128379 T C SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.4205 p.Q1402R 0.000 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 123 0 0 77 24 23.7624 PPM1H 0 genome.wustl.edu 37 12 63113967 63113967 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 63113967 63113967 A G SNP PPM1H ENST00000228705 human ensembl 74_37 -1 known missense c.1057 p.F353L 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 100 0 0 117 17 12.6866 RPS11P6 0 genome.wustl.edu 37 12 64790385 64790385 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 64790385 64790385 A C SNP RPS11P6 ENST00000482431 human ensembl 74_37 +1 known rna NULL NULL 0.828 - - - no_errors RPS11P6 HGNC ENSG00000243024 12 0 0 13 3 18.75 RAB21 0 genome.wustl.edu 37 12 72167766 72167766 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 72167766 72167766 A G SNP RAB21 ENST00000261263 human ensembl 74_37 +1 known missense c.355 p.K119E 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB21 HGNC ENSG00000080371 49 0 0 65 4 5.7971 CD163L1 0 genome.wustl.edu 37 12 7531781 7531781 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 7531781 7531781 T G SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2164 p.N722H 0.010 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 111 0 0 101 12 10.6195 KCNC2 0 genome.wustl.edu 37 12 75601557 75601557 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 75601557 75601557 C T SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.207 p.P69 0.002 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like 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_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 12 0 0 15 9 37.5 CLEC4C 0 genome.wustl.edu 37 12 7894101 7894101 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 7894101 7894101 T G SNP CLEC4C ENST00000360345 human ensembl 74_37 -1 known missense c.151 p.T51P 0.047 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4C HGNC ENSG00000198178 108 0 0 59 18 23.3766 PZP 0 genome.wustl.edu 37 12 9318719 9318719 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 9318719 9318719 A C SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.2187 p.S729R 0.002 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 101 0 0 62 34 35.4167 EEA1 0 genome.wustl.edu 37 12 93226309 93226309 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 93226309 93226309 T G SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.1233 p.Q411H 0.999 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 140 0 0 98 72 42.3529 PLXNC1 0 genome.wustl.edu 37 12 94692436 94692436 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 94692436 94692436 T G SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.4103 p.L1368R 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 57 0 0 37 15 28.8462 APAF1 0 genome.wustl.edu 37 12 99042569 99042569 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 12 99042569 99042569 T G SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.304 p.S102A 0.567 pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 161 0 0 174 38 17.9245 MYO16 0 genome.wustl.edu 37 13 109704747 109704747 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 109704747 109704747 A C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.2906 p.K969T 0.068 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_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 111 0 0 60 27 31.0345 MYO16 0 genome.wustl.edu 37 13 109704765 109704765 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 109704765 109704765 A C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.2924 p.K975T 0.998 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_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 99 0 0 70 17 19.5402 ATP11A 0 genome.wustl.edu 37 13 113487306 113487306 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 113487306 113487306 G A SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.1528 p.D510N 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 201 0 0 146 45 23.5602 CRYL1 0 genome.wustl.edu 37 13 20978777 20978777 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 20978777 20978777 G A SNP CRYL1 ENST00000298248 human ensembl 74_37 -1 known silent c.843 p.N281 0.767 NULL pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 111 0 0 79 22 21.7822 XPO4 0 genome.wustl.edu 37 13 21383284 21383284 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 21383284 21383284 T G SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.1431 p.Q477H 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 137 0 0 107 15 12.2951 SACS 0 genome.wustl.edu 37 13 23907309 23907309 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 23907309 23907309 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.10706 p.L3569R 0.667 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 42 0 0 27 4 12.9032 SACS 0 genome.wustl.edu 37 13 23909096 23909096 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 23909096 23909096 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.8919 p.D2973E 0.122 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 113 0 0 105 27 20.4545 SACS 0 genome.wustl.edu 37 13 23910752 23910752 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 23910752 23910752 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.7263 p.F2421L 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 49 0 0 30 9 23.0769 TPTE2P6 0 genome.wustl.edu 37 13 25171578 25171578 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 25171578 25171578 A C SNP TPTE2P6 ENST00000440905 human ensembl 74_37 +1 known rna NULL NULL 0.193 - - - no_errors TPTE2P6 HGNC ENSG00000205822 59 0 0 31 14 31.1111 MTUS2 0 genome.wustl.edu 37 13 29600662 29600662 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 29600662 29600662 T C SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known silent c.1857 p.P619 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 43 0 0 33 10 23.2558 SUPT20H 0 genome.wustl.edu 37 13 37607715 37607715 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 37607715 37607715 A C SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known missense c.578 p.L193R 0.997 pfam_Spt20 pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 115 0 0 115 10 8 FREM2 0 genome.wustl.edu 37 13 39265757 39265757 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 39265757 39265757 A C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.4276 p.S1426R 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 157 0 0 95 50 34.4828 VWA8 0 genome.wustl.edu 37 13 42144716 42144716 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 42144716 42144716 T G SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.5497 p.N1833H 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 153 0 0 143 25 14.881 VWA8 0 genome.wustl.edu 37 13 42144783 42144783 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 42144783 42144783 T G SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.5430 p.E1810D 0.995 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 91 0 0 86 15 14.8515 FNDC3A 0 genome.wustl.edu 37 13 49748662 49748662 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 49748662 49748662 T G SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.1322 p.F441C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 35 0 0 48 6 11.1111 PCDH8 0 genome.wustl.edu 37 13 53421176 53421176 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 53421176 53421176 T C SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.1396 p.T466A 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 PCDH8 HGNC ENSG00000136099 24 0 0 16 3 15.7895 DIAPH3 0 genome.wustl.edu 37 13 60544997 60544997 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 60544997 60544997 T G SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.1948 p.N650H 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 66 0 0 51 5 8.92857 PCDH9 0 genome.wustl.edu 37 13 67801672 67801672 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 67801672 67801672 T C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.901 p.R301G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 126 0 0 85 35 29.1667 PIBF1 0 genome.wustl.edu 37 13 73372083 73372083 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 73372083 73372083 A C SNP PIBF1 ENST00000326291 human ensembl 74_37 +1 known missense c.591 p.E197D 0.835 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 163 0 0 116 16 12.1212 PIBF1 0 genome.wustl.edu 37 13 73396078 73396078 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 73396078 73396078 A G SNP PIBF1 ENST00000326291 human ensembl 74_37 +1 known missense c.764 p.Q255R 1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 59 0 0 64 21 24.7059 MYCBP2 0 genome.wustl.edu 37 13 77635873 77635873 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 77635873 77635873 T G SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.12827 p.N4276T 0.997 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 57 0 0 36 9 20 EDNRB 0 genome.wustl.edu 37 13 78493594 78493594 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 78493594 78493594 A C SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative missense c.157 p.F53V 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 56 0 0 42 13 23.6364 DOCK9 0 genome.wustl.edu 37 13 99452705 99452705 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 99452705 99452705 T G SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.5756 p.K1919T 1.000 pfam_DOCK_C 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 53 0 0 33 4 10.8108 AHNAK2 0 genome.wustl.edu 37 14 105415198 105415198 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 105415198 105415198 T A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.6590 p.K2197M 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 334 0 0 141 30 17.5439 OR4K5 0 genome.wustl.edu 37 14 20389223 20389223 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 20389223 20389223 T C SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known missense c.458 p.L153S 0.176 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 OR4K5 HGNC ENSG00000176281 328 0 0 213 71 25 RNASE10 0 genome.wustl.edu 37 14 20979222 20979222 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 20979222 20979222 A C SNP RNASE10 ENST00000328444 human ensembl 74_37 +1 known missense c.592 p.K198Q 0.004 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE10 HGNC ENSG00000182545 49 0 0 52 7 11.8644 MYH6 0 genome.wustl.edu 37 14 23853762 23853762 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 23853762 23853762 T G SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.5454 p.E1818D 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 155 0 0 88 47 34.8148 RNF31 0 genome.wustl.edu 37 14 24627108 24627108 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 24627108 24627108 A T SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.2729 p.K910I 1.000 smart_Znf_C6HC pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 54 0 0 43 13 23.2143 TSSK4 0 genome.wustl.edu 37 14 24675723 24675723 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 24675723 24675723 A C SNP TSSK4 ENST00000339917 human ensembl 74_37 +1 known missense c.234 p.K78N 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 TSSK4 HGNC ENSG00000139908 103 0 0 76 14 15.5556 NYNRIN 0 genome.wustl.edu 37 14 24878881 24878881 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 24878881 24878881 T G SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known silent c.1881 p.A627 0.928 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 15 0 0 8 2 20 HEATR5A 0 genome.wustl.edu 37 14 31771644 31771644 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 31771644 31771644 T A SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.5303 p.Q1768L 0.960 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 10 0 0 17 4 19.0476 ARHGAP5 0 genome.wustl.edu 37 14 32560921 32560921 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 32560921 32560921 T C SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1046 p.L349P 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 120 0 0 104 20 16.129 NPAS3 0 genome.wustl.edu 37 14 34204467 34204467 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 34204467 34204467 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.781 p.R261C 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 90 0 0 65 7 9.72222 NPAS3 0 genome.wustl.edu 37 14 34269204 34269204 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 34269204 34269204 A G SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.1691 p.E564G 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 40 0 0 22 12 35.2941 ENSG00000258938 0 genome.wustl.edu 37 14 36289054 36289054 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 36289054 36289054 A C SNP ENSG00000258938 ENST00000555918 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-317N8.5 Clone_based_vega_gene ENSG00000258938 39 0 0 37 17 31.4815 MDGA2 0 genome.wustl.edu 37 14 47426820 47426820 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 47426820 47426820 A C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.1846 p.L616V 0.975 smart_Ig_sub,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_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 86 0 0 63 31 32.9787 NEMF 0 genome.wustl.edu 37 14 50253494 50253494 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 50253494 50253494 A C SNP NEMF ENST00000554275 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors NEMF HGNC ENSG00000165525 55 0 0 32 5 13.5135 ATP5S 0 genome.wustl.edu 37 14 50790684 50790684 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 50790684 50790684 A C SNP ATP5S ENST00000311459 human ensembl 74_37 +1 known missense c.383 p.K128T 1.000 NULL NULL - no_errors ATP5S HGNC ENSG00000125375 82 0 0 62 22 26.1905 MAP4K5 0 genome.wustl.edu 37 14 50906792 50906792 + Splice_Site SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 50906792 50906792 C T SNP MAP4K5 ENST00000013125 human ensembl 74_37 -1 known splice_site c.1645-1 e22-1 1.000 - - - no_errors MAP4K5 HGNC ENSG00000012983 23 0 0 18 5 21.7391 TXNDC16 0 genome.wustl.edu 37 14 52981657 52981657 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 52981657 52981657 C T SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known silent c.546 p.V182 0.995 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 147 0 0 101 40 28.3688 JKAMP 0 genome.wustl.edu 37 14 59965516 59965516 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 59965516 59965516 A C SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.554 p.K185T 1.000 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 27 0 0 10 9 47.3684 ESR2 0 genome.wustl.edu 37 14 64716368 64716368 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 64716368 64716368 A G SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.1121 p.L374P 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,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 ESR2 HGNC ENSG00000140009 116 0 0 62 4 6.06061 SPTB 0 genome.wustl.edu 37 14 65252275 65252275 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 65252275 65252275 A C SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.3835 p.F1279V 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 31 0 0 8 8 50 SLC8A3 0 genome.wustl.edu 37 14 70515511 70515511 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 70515511 70515511 A C SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.2380 p.F794V 1.000 pfam_NaCa_Exmemb,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 37 0 0 17 6 26.087 ADAM21P1 0 genome.wustl.edu 37 14 70712504 70712504 + RNA SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 70712504 70712504 T C SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.965 - - - no_errors ADAM21P1 HGNC ENSG00000235812 71 0 0 32 17 34.6939 SIPA1L1 0 genome.wustl.edu 37 14 72117215 72117215 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 72117215 72117215 T G SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.1982 p.L661R 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 59 0 0 56 9 13.8462 YLPM1 0 genome.wustl.edu 37 14 75283360 75283360 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 75283360 75283360 A G SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known silent c.5652 p.K1884 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 31 0 0 26 3 10.3448 SLIRP 0 genome.wustl.edu 37 14 78183895 78183895 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 78183895 78183895 A G SNP SLIRP ENST00000557342 human ensembl 74_37 +1 known silent c.321 p.K107 0.995 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SLIRP HGNC ENSG00000119705 72 0 0 37 11 22.9167 ATG2B 0 genome.wustl.edu 37 14 96783531 96783531 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 14 96783531 96783531 A C SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.3161 p.V1054G 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 98 0 0 53 21 28.3784 DNM1P46 0 genome.wustl.edu 37 15 100339966 100339966 + RNA SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 100339966 100339966 G T SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 39 0 0 27 5 15.625 LRRK1 0 genome.wustl.edu 37 15 101609038 101609038 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 101609038 101609038 T A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.6033 p.T2011 0.014 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 65 0 0 34 15 30.6122 ENSG00000259480 0 genome.wustl.edu 37 15 23131919 23131919 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 23131919 23131919 T G SNP ENSG00000259480 ENST00000560053 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-26F2.1 Clone_based_vega_gene ENSG00000259480 38 0 0 20 14 41.1765 SNHG14 0 genome.wustl.edu 37 15 25470187 25470187 + RNA SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 25470187 25470187 G A SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.825 - - - no_errors SNHG14 HGNC ENSG00000224078 28 0 0 14 4 22.2222 SNHG14 0 genome.wustl.edu 37 15 25489098 25489098 + RNA SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 25489098 25489098 G T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 8 0 0 2 3 60 HERC2 0 genome.wustl.edu 37 15 28478297 28478297 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 28478297 28478297 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.4670 p.K1557R 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 72 0 0 39 8 17.0213 GOLGA6L7P 0 genome.wustl.edu 37 15 29091060 29091060 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 29091060 29091060 T G SNP GOLGA6L7P ENST00000569815 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 12 0 0 9 3 25 TRPM1 0 genome.wustl.edu 37 15 31330353 31330353 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 31330353 31330353 A C SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.2384 p.L795R 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 31 0 0 26 4 13.3333 BUB1B 0 genome.wustl.edu 37 15 40498573 40498573 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 40498573 40498573 A C SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.1965 p.E655D 0.996 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 89 0 0 52 14 21.2121 RPUSD2 0 genome.wustl.edu 37 15 40866189 40866189 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 40866189 40866189 A G SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.1367 p.E456G 0.000 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 116 0 0 102 17 14.2857 DNAJC17 0 genome.wustl.edu 37 15 41066632 41066632 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 41066632 41066632 A G SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known silent c.603 p.Y201 1.000 pfam_RRM_dom pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 178 0 0 120 12 9.09091 MGA 0 genome.wustl.edu 37 15 42053967 42053967 + Nonsense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 42053967 42053967 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known nonsense c.7429 p.Q2477* 1.000 superfamily_bHLH_dom,smart_bHLH_dom pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 12 0 0 7 3 30 PLA2G4E 0 genome.wustl.edu 37 15 42281732 42281732 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 42281732 42281732 G T SNP PLA2G4E ENST00000413860 human ensembl 74_37 -1 known missense c.1517 p.P506H 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 24 0 0 19 5 20.8333 TP53BP1 0 genome.wustl.edu 37 15 43748755 43748755 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 43748755 43748755 A T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.2051 p.L684H 0.055 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 166 0 0 136 10 6.84932 DUOX1 0 genome.wustl.edu 37 15 45448048 45448048 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 45448048 45448048 T G SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.3623 p.F1208C 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 157 0 0 96 41 29.927 SQRDL 0 genome.wustl.edu 37 15 45954208 45954208 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 45954208 45954208 C T SNP SQRDL ENST00000260324 human ensembl 74_37 +1 known missense c.290 p.S97F 0.592 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors SQRDL HGNC ENSG00000137767 57 0 0 31 8 20.5128 SEMA6D 0 genome.wustl.edu 37 15 48056380 48056380 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 48056380 48056380 T G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known silent c.975 p.G325 0.204 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 106 0 0 93 26 21.8487 SLC27A2 0 genome.wustl.edu 37 15 50519317 50519317 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 50519317 50519317 T A SNP SLC27A2 ENST00000267842 human ensembl 74_37 +1 known missense c.1399 p.L467I 0.972 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 62 0 0 41 13 24.0741 HDC 0 genome.wustl.edu 37 15 50534630 50534630 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 50534630 50534630 T G SNP HDC ENST00000267845 human ensembl 74_37 -1 known missense c.1816 p.N606H 0.960 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 296 0 0 256 14 5.18519 HDC 0 genome.wustl.edu 37 15 50546770 50546770 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 50546770 50546770 T C SNP HDC ENST00000267845 human ensembl 74_37 -1 known missense c.533 p.E178G 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 75 0 0 47 14 22.9508 CYP19A1 0 genome.wustl.edu 37 15 51507411 51507411 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 51507411 51507411 T C SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known missense c.877 p.R293G 0.003 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 93 0 0 67 9 11.8421 DMXL2 0 genome.wustl.edu 37 15 51772992 51772992 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 51772992 51772992 T C SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.6311 p.K2104R 0.004 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 124 0 0 115 15 11.5385 DMXL2 0 genome.wustl.edu 37 15 51783905 51783905 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 51783905 51783905 T G SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.4823 p.E1608A 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 104 0 0 88 9 9.27835 MYO5A 0 genome.wustl.edu 37 15 52725446 52725446 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 52725446 52725446 A G SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.64 p.W22R 0.995 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 86 0 0 67 11 14.1026 UNC13C 0 genome.wustl.edu 37 15 54305506 54305506 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 54305506 54305506 A C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.406 p.S136R 0.737 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 58 0 0 39 14 26.4151 PIGB 0 genome.wustl.edu 37 15 55612587 55612587 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 55612587 55612587 T G SNP PIGB ENST00000164305 human ensembl 74_37 +1 known missense c.278 p.V93G 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 61 0 0 34 16 32 TEX9 0 genome.wustl.edu 37 15 56686444 56686444 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 56686444 56686444 A C SNP TEX9 ENST00000352903 human ensembl 74_37 +1 known missense c.653 p.K218T 1.000 NULL NULL - no_errors TEX9 HGNC ENSG00000151575 87 0 0 101 6 5.60748 ZNF280D 0 genome.wustl.edu 37 15 56981564 56981564 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 56981564 56981564 A C SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known missense c.604 p.S202A 0.004 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 38 0 0 38 12 24 RNF111 0 genome.wustl.edu 37 15 59373169 59373169 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 59373169 59373169 T C SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known silent c.1983 p.A661 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 199 0 0 94 33 25.9843 MYO1E 0 genome.wustl.edu 37 15 59500962 59500962 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 59500962 59500962 T C SNP MYO1E ENST00000288235 human ensembl 74_37 -1 known missense c.1448 p.Q483R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 155 0 0 105 7 6.25 MYO1E 0 genome.wustl.edu 37 15 59553637 59553637 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 59553637 59553637 A C SNP MYO1E ENST00000288235 human ensembl 74_37 -1 known missense c.219 p.I73M 0.994 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 104 0 0 85 26 23.4234 USP3 0 genome.wustl.edu 37 15 63882994 63882994 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 63882994 63882994 A G SNP USP3 ENST00000380324 human ensembl 74_37 +1 known missense c.1532 p.H511R 1.000 pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP3 HGNC ENSG00000140455 145 0 0 106 32 23.1884 LARP6 0 genome.wustl.edu 37 15 71124941 71124941 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 71124941 71124941 T C SNP LARP6 ENST00000299213 human ensembl 74_37 -1 known missense c.926 p.E309G 0.897 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 160 1 0.621118 106 33 23.741 SEMA7A 0 genome.wustl.edu 37 15 74704005 74704005 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 74704005 74704005 A G SNP SEMA7A ENST00000261918 human ensembl 74_37 -1 known missense c.1469 p.L490P 1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA7A HGNC ENSG00000138623 82 0 0 49 6 10.9091 PTPN9 0 genome.wustl.edu 37 15 75798030 75798030 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 75798030 75798030 A T SNP PTPN9 ENST00000306726 human ensembl 74_37 -1 known silent c.954 p.T318 0.890 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 97 0 0 74 21 22.1053 C15orf27 0 genome.wustl.edu 37 15 76449088 76449088 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 76449088 76449088 A C SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.371 p.K124T 1.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 79 0 0 82 9 9.89011 SCAPER 0 genome.wustl.edu 37 15 76673782 76673782 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 76673782 76673782 T C SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known silent c.3642 p.Q1214 0.982 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 32 0 0 19 4 17.3913 ACSBG1 0 genome.wustl.edu 37 15 78486286 78486286 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 78486286 78486286 G A SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known missense c.530 p.T177I 0.902 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 57 0 0 28 6 17.6471 RASGRF1 0 genome.wustl.edu 37 15 79350698 79350698 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 79350698 79350698 T G SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.509 p.E170A 1.000 NULL 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 107 0 0 83 7 7.77778 C15orf26 0 genome.wustl.edu 37 15 81427654 81427654 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 81427654 81427654 T G SNP C15orf26 ENST00000286732 human ensembl 74_37 +1 known missense c.113 p.L38R 0.991 NULL NULL - no_errors C15orf26 HGNC ENSG00000156206 69 0 0 62 10 13.8889 FSD2 0 genome.wustl.edu 37 15 83447586 83447586 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 83447586 83447586 T G SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known missense c.1043 p.E348A 0.989 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 36 0 0 29 14 32.5581 ZNF592 0 genome.wustl.edu 37 15 85326908 85326908 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 85326908 85326908 C T SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known silent c.1002 p.S334 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 158 1 0.628931 95 24 20.1681 ALPK3 0 genome.wustl.edu 37 15 85383097 85383097 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 85383097 85383097 T G SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.1193 p.I398S 0.966 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 ALPK3 HGNC ENSG00000136383 94 0 0 47 16 25.3968 ALPK3 0 genome.wustl.edu 37 15 85411511 85411511 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 85411511 85411511 A G SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.5548 p.K1850E 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 ALPK3 HGNC ENSG00000136383 81 0 0 51 20 28.169 PDE8A 0 genome.wustl.edu 37 15 85656658 85656658 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 85656658 85656658 A T SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.1165 p.I389F 0.978 NULL 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 146 0 0 94 18 16.0714 DET1 0 genome.wustl.edu 37 15 89074106 89074106 + Silent SNP C C G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 89074106 89074106 C G SNP DET1 ENST00000444300 human ensembl 74_37 -1 known silent c.864 p.R288 0.895 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 54 0 0 39 20 33.8983 PLIN1 0 genome.wustl.edu 37 15 90210256 90210256 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 90210256 90210256 A G SNP PLIN1 ENST00000300055 human ensembl 74_37 -1 known missense c.1120 p.S374P 0.003 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN1 HGNC ENSG00000166819 63 0 0 40 8 16.6667 IQGAP1 0 genome.wustl.edu 37 15 91009655 91009655 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 91009655 91009655 A C SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.2022 p.K674N 0.981 superfamily_P-loop_NTPase pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 59 0 0 51 6 10.5263 BLM 0 genome.wustl.edu 37 15 91358410 91358410 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 91358410 91358410 T C SNP BLM ENST00000355112 human ensembl 74_37 +1 known silent c.4155 p.T1385 0.001 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 107 0 0 68 32 32 C15orf32 0 genome.wustl.edu 37 15 93015408 93015408 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 93015408 93015408 A G SNP C15orf32 ENST00000333334 human ensembl 74_37 +1 known silent c.30 p.S10 0.000 NULL NULL - no_errors C15orf32 HGNC ENSG00000183643 66 0 0 34 16 32 SPATA8 0 genome.wustl.edu 37 15 97326897 97326897 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 97326897 97326897 T C SNP SPATA8 ENST00000328504 human ensembl 74_37 +1 known silent c.12 p.A4 0.000 NULL NULL - no_errors SPATA8 HGNC ENSG00000185594 92 0 0 45 14 23.7288 IGF1R 0 genome.wustl.edu 37 15 99192862 99192862 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 15 99192862 99192862 T A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.52 p.F18I 0.998 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 79 0 0 45 16 26.2295 GRIN2A 0 genome.wustl.edu 37 16 10274067 10274067 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 10274067 10274067 T G SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.202 p.N68H 1.000 superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 152 0 0 107 7 6.14035 CLEC16A 0 genome.wustl.edu 37 16 11217681 11217681 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 11217681 11217681 A C SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2351 p.K784T 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 100 0 0 65 12 15.5844 TPSB2 0 genome.wustl.edu 37 16 1278582 1278582 + RNA SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 1278582 1278582 G C SNP TPSB2 ENST00000606293 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPSB2 HGNC ENSG00000197253 36 0 0 36 8 18.1818 NPIPA5 0 genome.wustl.edu 37 16 15457778 15457778 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 15457778 15457778 T G SNP NPIPA5 ENST00000360151 human ensembl 74_37 -1 novel missense c.791 p.K264T 0.000 NULL NULL - no_errors NPIPA5 HGNC ENSG00000183793 125 0 0 89 12 11.8812 NUBP2 0 genome.wustl.edu 37 16 1836884 1836884 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 1836884 1836884 T C SNP NUBP2 ENST00000262302 human ensembl 74_37 +1 known missense c.262 p.S88P 0.999 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 44 0 0 21 5 19.2308 RPL3L 0 genome.wustl.edu 37 16 1995925 1995925 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 1995925 1995925 A C SNP RPL3L ENST00000268661 human ensembl 74_37 -1 known missense c.958 p.F320V 1.000 pfam_Ribosomal_L3,superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3L HGNC ENSG00000140986 85 0 0 70 18 20.4545 GPR139 0 genome.wustl.edu 37 16 20043272 20043272 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 20043272 20043272 A C SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known missense c.847 p.F283V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 156 0 0 113 8 6.61157 NDUFAB1 0 genome.wustl.edu 37 16 23593647 23593647 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 23593647 23593647 T G SNP NDUFAB1 ENST00000007516 human ensembl 74_37 -1 known missense c.429 p.E143D 1.000 pfam_Acyl_carrier_prot-like,superfamily_Acyl_carrier_prot-like,pfscan_Acyl_carrier_prot-like,tigrfam_Acyl_carrier pfam_Acyl_carrier_prot-like,superfamily_Acyl_carrier_prot-like,pfscan_Acyl_carrier_prot-like,tigrfam_Acyl_carrier - no_errors NDUFAB1 HGNC ENSG00000004779 17 0 0 11 3 21.4286 C16orf82 0 genome.wustl.edu 37 16 27078600 27078600 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 27078600 27078600 A C SNP C16orf82 ENST00000418886 human ensembl 74_37 +1 known rna NULL NULL 0.137 - - - no_errors C16orf82 HGNC ENSG00000234186 10 0 0 9 3 25 ITGAL 0 genome.wustl.edu 37 16 30495458 30495458 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 30495458 30495458 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.880 p.E294K 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 211 0 0 115 50 30.303 PRR14 0 genome.wustl.edu 37 16 30667596 30667596 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 30667596 30667596 A C SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known missense c.1722 p.E574D 0.992 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 84 0 0 51 20 28.169 SRCAP 0 genome.wustl.edu 37 16 30733499 30733499 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 30733499 30733499 A T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.3598 p.N1200Y 0.998 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 137 0 0 86 29 25.2174 ORAI3 0 genome.wustl.edu 37 16 30964606 30964606 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 30964606 30964606 T G SNP ORAI3 ENST00000318663 human ensembl 74_37 +1 known missense c.329 p.L110R 1.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI3 HGNC ENSG00000175938 114 0 0 56 29 34.1176 ITGAD 0 genome.wustl.edu 37 16 31405555 31405555 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 31405555 31405555 A G SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known splice_site c.32-2 e2-2 0.128 - - - no_errors ITGAD HGNC ENSG00000156886 40 0 0 35 9 20.4545 ZSCAN10 0 genome.wustl.edu 37 16 3140576 3140576 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 3140576 3140576 G A SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.694 p.P232S 0.000 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 ZSCAN10 HGNC ENSG00000130182 104 0 0 63 8 11.2676 C16orf71 0 genome.wustl.edu 37 16 4787904 4787904 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 4787904 4787904 A C SNP C16orf71 ENST00000299320 human ensembl 74_37 +1 known missense c.233 p.K78T 0.001 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 62 0 0 51 15 22.7273 ABCC12 0 genome.wustl.edu 37 16 48120544 48120544 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 48120544 48120544 A C SNP ABCC12 ENST00000532355 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ABCC12 HGNC ENSG00000140798 34 0 0 30 5 14.2857 PPL 0 genome.wustl.edu 37 16 4951037 4951037 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 4951037 4951037 T G SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.492 p.Q164H 0.996 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 82 0 0 59 10 14.4928 CYLD 0 genome.wustl.edu 37 16 50830253 50830253 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 50830253 50830253 A T SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.2705 p.N902I 1.000 pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 86 0 0 60 24 28.5714 CCDC135 0 genome.wustl.edu 37 16 57760158 57760158 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 57760158 57760158 A C SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1937 p.K646T 1.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 96 0 0 36 15 29.4118 USB1 0 genome.wustl.edu 37 16 58048232 58048232 + Splice_Site SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 58048232 58048232 T A SNP USB1 ENST00000219281 human ensembl 74_37 +1 known splice_site c.503+2 e4+2 0.991 - - - no_errors USB1 HGNC ENSG00000103005 37 0 0 25 6 19.3548 CSNK2A2 0 genome.wustl.edu 37 16 58201605 58201605 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 58201605 58201605 A G SNP CSNK2A2 ENST00000262506 human ensembl 74_37 -1 known missense c.608 p.L203P 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_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A2 HGNC ENSG00000070770 70 0 0 53 24 31.1688 NFATC3 0 genome.wustl.edu 37 16 68156367 68156367 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 68156367 68156367 C T SNP NFATC3 ENST00000346183 human ensembl 74_37 +1 known missense c.581 p.S194L 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 125 0 0 49 17 25.7576 COG8 0 genome.wustl.edu 37 16 69366594 69366594 + Nonstop_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 69366594 69366594 T G SNP COG8 ENST00000562081 human ensembl 74_37 -1 novel nonstop c.1605 p.*535Y 0.001 NULL pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 97 0 0 59 10 14.4928 HYDIN 0 genome.wustl.edu 37 16 71008176 71008176 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 71008176 71008176 T G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.4937 p.K1646T 1.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 16 0 0 17 10 37.037 CMTR2 0 genome.wustl.edu 37 16 71317997 71317997 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 71317997 71317997 A G SNP CMTR2 ENST00000338099 human ensembl 74_37 -1 known silent c.1827 p.T609 0.900 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors CMTR2 HGNC ENSG00000180917 80 0 0 63 15 19.2308 TAT 0 genome.wustl.edu 37 16 71610309 71610309 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 71610309 71610309 A G SNP TAT ENST00000355962 human ensembl 74_37 -1 known missense c.10 p.Y4H 0.998 pfam_Tyr_aminoTrfase_ubiquitination,pirsf_Tyrosine_transaminase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 83 0 0 44 14 24.1379 HP 0 genome.wustl.edu 37 16 72094025 72094025 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 72094025 72094025 A G SNP HP ENST00000355906 human ensembl 74_37 +1 known missense c.457 p.K153E 0.008 superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HP HGNC ENSG00000257017 32 0 0 24 9 27.2727 LDHD 0 genome.wustl.edu 37 16 75147704 75147704 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 75147704 75147704 C T SNP LDHD ENST00000300051 human ensembl 74_37 -1 known silent c.963 p.A321 0.008 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 112 0 0 66 19 22.3529 KARS 0 genome.wustl.edu 37 16 75664405 75664405 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 75664405 75664405 A C SNP KARS ENST00000319410 human ensembl 74_37 -1 known missense c.1424 p.L475R 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_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 56 0 0 41 6 12.766 CNTNAP4 0 genome.wustl.edu 37 16 76486611 76486611 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 76486611 76486611 A T SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.1275 p.G425 0.996 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 CNTNAP4 HGNC ENSG00000152910 57 0 0 36 14 28 PLCG2 0 genome.wustl.edu 37 16 81953163 81953163 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 81953163 81953163 T C SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.2129 p.F710S 1.000 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2,prints_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 100 0 0 74 20 21.2766 SDR42E1 0 genome.wustl.edu 37 16 82033269 82033269 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 82033269 82033269 T G SNP SDR42E1 ENST00000328945 human ensembl 74_37 -1 known missense c.629 p.K210T 0.694 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like - no_errors SDR42E1 HGNC ENSG00000184860 218 0 0 156 23 12.8492 ZCCHC14 0 genome.wustl.edu 37 16 87446364 87446364 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 87446364 87446364 T C SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.1552 p.R518G 0.012 NULL pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 87 0 0 69 24 25.8065 PRDM7 0 genome.wustl.edu 37 16 90128557 90128557 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 90128557 90128557 A G SNP PRDM7 ENST00000568473 human ensembl 74_37 -1 known missense c.395 p.L132P 0.083 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM7 HGNC ENSG00000126856 54 0 0 58 13 18.3099 MYH8 0 genome.wustl.edu 37 17 10300237 10300237 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 10300237 10300237 A C SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.4245 p.A1415 0.923 pfam_Myosin_tail,superfamily_Prefoldin 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 88 0 0 71 17 19.3182 MYH1 0 genome.wustl.edu 37 17 10415458 10415458 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 10415458 10415458 T G SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.1199 p.K400T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_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 MYH1 HGNC ENSG00000109061 272 0 0 196 34 14.7826 MYH2 0 genome.wustl.edu 37 17 10428180 10428180 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 10428180 10428180 T G SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.4865 p.K1622T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 155 0 0 120 34 22.0779 MYH2 0 genome.wustl.edu 37 17 10428375 10428375 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 10428375 10428375 A C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.4670 p.L1557R 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 150 0 0 110 10 8.33333 DNAH9 0 genome.wustl.edu 37 17 11572875 11572875 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 11572875 11572875 A C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.3117 p.E1039D 0.067 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 150 0 0 103 29 21.9697 NCOR1 0 genome.wustl.edu 37 17 15965203 15965203 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 15965203 15965203 A T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.5393 p.L1798Q 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 75 0 0 55 7 11.2903 CCDC144A 0 genome.wustl.edu 37 17 16612142 16612142 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 16612142 16612142 T G SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.771 p.D257E 0.232 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 97 0 0 53 25 32.0513 SMYD4 0 genome.wustl.edu 37 17 1704257 1704257 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 1704257 1704257 T A SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known missense c.431 p.K144M 0.998 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 220 0 0 162 28 14.7368 MYO15A 0 genome.wustl.edu 37 17 18044990 18044990 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 18044990 18044990 A G SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.5555 p.K1852R 0.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 136 0 0 60 16 21.0526 MYO15A 0 genome.wustl.edu 37 17 18054711 18054711 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 18054711 18054711 T G SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.7657 p.S2553A 0.489 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 92 0 0 35 15 30 MFAP4 0 genome.wustl.edu 37 17 19288525 19288525 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 19288525 19288525 T A SNP MFAP4 ENST00000395592 human ensembl 74_37 -1 known missense c.479 p.E160V 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors MFAP4 HGNC ENSG00000166482 121 0 0 72 6 7.69231 ATAD5 0 genome.wustl.edu 37 17 29185224 29185224 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 29185224 29185224 T A SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.2839 p.L947M 0.991 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 75 0 0 54 11 16.9231 CCL1 0 genome.wustl.edu 37 17 32690125 32690125 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 32690125 32690125 T G SNP CCL1 ENST00000225842 human ensembl 74_37 -1 known missense c.56 p.E19A 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL1 HGNC ENSG00000108702 66 0 0 44 5 10.2041 LIG3 0 genome.wustl.edu 37 17 33310344 33310344 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 33310344 33310344 A C SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.320 p.K107T 1.000 pfam_Znf_PARP,pfscan_Znf_PARP pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 76 0 0 67 12 15.1899 SPATA22 0 genome.wustl.edu 37 17 3352328 3352328 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 3352328 3352328 T A SNP SPATA22 ENST00000397168 human ensembl 74_37 -1 known missense c.445 p.S149C 0.066 NULL NULL - no_errors SPATA22 HGNC ENSG00000141255 188 0 0 118 60 33.7079 SLFN13 0 genome.wustl.edu 37 17 33768966 33768966 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 33768966 33768966 T G SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known missense c.1538 p.K513T 0.001 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 49 0 0 31 6 16.2162 ENSG00000266999 0 genome.wustl.edu 37 17 34233878 34233878 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 34233878 34233878 T G SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 36 0 0 39 4 9.30233 LYZL6 0 genome.wustl.edu 37 17 34264911 34264911 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 34264911 34264911 A G SNP LYZL6 ENST00000293274 human ensembl 74_37 -1 known missense c.149 p.L50P 0.996 pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL6 HGNC ENSG00000161572 48 0 0 51 6 10.5263 ACACA 0 genome.wustl.edu 37 17 35536243 35536243 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 35536243 35536243 T A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.5037 p.Q1679H 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 88 0 0 53 23 30.2632 GPR179 0 genome.wustl.edu 37 17 36486628 36486628 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 36486628 36486628 A C SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.2824 p.L942V 0.982 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 24 0 0 11 4 26.6667 RARA 0 genome.wustl.edu 37 17 38498886 38498886 + RNA SNP C C A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 38498886 38498886 C A SNP RARA ENST00000579727 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors RARA HGNC ENSG00000131759 29 0 0 25 10 28.5714 KRT25 0 genome.wustl.edu 37 17 38911503 38911503 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 38911503 38911503 A G SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known silent c.21 p.S7 0.697 NULL pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 63 0 0 43 6 12.2449 KRT38 0 genome.wustl.edu 37 17 39593675 39593675 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 39593675 39593675 T G SNP KRT38 ENST00000246646 human ensembl 74_37 -1 known missense c.1360 p.S454R 0.006 NULL pfam_IF,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 22 0 0 14 3 17.6471 BECN1 0 genome.wustl.edu 37 17 40963766 40963766 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 40963766 40963766 T C SNP BECN1 ENST00000361523 human ensembl 74_37 -1 known missense c.1091 p.K364R 1.000 pfam_Beclin_fam pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC ENSG00000126581 149 0 0 95 45 32.1429 BRCA1 0 genome.wustl.edu 37 17 41228549 41228549 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 41228549 41228549 A G SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known silent c.4503 p.S1501 0.032 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 110 0 0 68 12 15 BRCA1 0 genome.wustl.edu 37 17 41243775 41243775 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 41243775 41243775 T C SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.3773 p.E1258G 0.353 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 167 0 0 160 13 7.51445 GPATCH8 0 genome.wustl.edu 37 17 42477192 42477192 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 42477192 42477192 T C SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known silent c.2253 p.Q751 0.624 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 88 0 0 59 4 6.34921 FZD2 0 genome.wustl.edu 37 17 42636483 42636483 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 42636483 42636483 T A SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.1427 p.V476D 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 70 0 0 36 21 36.8421 MAPT 0 genome.wustl.edu 37 17 44067437 44067437 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 44067437 44067437 T G SNP MAPT ENST00000344290 human ensembl 74_37 +1 known missense c.1376 p.L459R 0.998 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 130 0 0 97 7 6.73077 WNT9B 0 genome.wustl.edu 37 17 44952679 44952679 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 44952679 44952679 A T SNP WNT9B ENST00000290015 human ensembl 74_37 +1 known missense c.547 p.N183Y 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT9B HGNC ENSG00000158955 49 0 0 25 18 41.8605 KIF1C 0 genome.wustl.edu 37 17 4925494 4925494 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 4925494 4925494 C T SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known silent c.2118 p.T706 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 73 0 0 45 12 21.0526 USP6 0 genome.wustl.edu 37 17 5044777 5044777 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 5044777 5044777 A C SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.1556 p.K519T 1.000 NULL 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 61 0 0 45 4 8.16327 KIF2B 0 genome.wustl.edu 37 17 51901856 51901856 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 51901856 51901856 A C SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1462 p.N488H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 65 0 0 46 6 11.5385 EPX 0 genome.wustl.edu 37 17 56280628 56280628 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 56280628 56280628 T G SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.1895 p.L632R 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 94 0 0 69 8 10.3896 LPO 0 genome.wustl.edu 37 17 56345352 56345352 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 56345352 56345352 T G SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.2136 p.N712K 0.002 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 83 0 0 52 21 28.7671 SMG8 0 genome.wustl.edu 37 17 57288500 57288500 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 57288500 57288500 A T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.1088 p.D363V 0.998 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 82 0 0 81 9 10 ACE 0 genome.wustl.edu 37 17 61571295 61571295 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 61571295 61571295 A C SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.3149 p.N1050T 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 67 0 0 58 8 12.1212 KCNH6 0 genome.wustl.edu 37 17 61607903 61607903 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 61607903 61607903 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known silent c.675 p.Q225 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 53 0 0 38 17 30.9091 KCNH6 0 genome.wustl.edu 37 17 61613064 61613064 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 61613064 61613064 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.1136 p.R379Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 87 0 0 47 19 28.7879 FTSJ3 0 genome.wustl.edu 37 17 61897227 61897227 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 61897227 61897227 T G SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known silent c.2479 p.R827 0.861 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 190 0 0 153 9 5.55556 LRRC37A3 0 genome.wustl.edu 37 17 62893362 62893362 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 62893362 62893362 T C SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.14 p.Q5R 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 182 0 0 188 11 5.52764 CEP112 0 genome.wustl.edu 37 17 63957711 63957711 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 63957711 63957711 T A SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known missense c.1742 p.K581I 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 90 0 0 72 12 14.2857 KIAA0753 0 genome.wustl.edu 37 17 6531699 6531699 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 6531699 6531699 T G SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.456 p.Q152H 0.002 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 89 0 0 64 7 9.85915 TEKT1 0 genome.wustl.edu 37 17 6716238 6716238 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 6716238 6716238 T C SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known missense c.764 p.K255R 0.972 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 137 0 0 131 8 5.7554 SDK2 0 genome.wustl.edu 37 17 71398177 71398177 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 71398177 71398177 T G SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.2588 p.K863T 1.000 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 SDK2 HGNC ENSG00000069188 45 0 0 25 10 28.5714 CD300E 0 genome.wustl.edu 37 17 72613331 72613331 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 72613331 72613331 T G SNP CD300E ENST00000426295 human ensembl 74_37 -1 known missense c.437 p.K146T 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 149 0 0 87 28 24.3478 TNK1 0 genome.wustl.edu 37 17 7291747 7291747 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 7291747 7291747 A G SNP TNK1 ENST00000576812 human ensembl 74_37 +1 known silent c.1515 p.S505 0.749 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,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,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK1 HGNC ENSG00000174292 56 0 0 36 6 14.2857 CYTH1 0 genome.wustl.edu 37 17 76698666 76698666 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 76698666 76698666 T G SNP CYTH1 ENST00000361101 human ensembl 74_37 -1 known missense c.191 p.K64T 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH1 HGNC ENSG00000108669 123 0 0 78 37 32.1739 DNAH2 0 genome.wustl.edu 37 17 7696052 7696052 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 7696052 7696052 A C SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.7223 p.N2408T 0.004 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,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 56 0 0 41 4 8.88889 BAIAP2 0 genome.wustl.edu 37 17 79073837 79073837 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 79073837 79073837 A G SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known missense c.599 p.K200R 1.000 pfam_IRSp53/MIM_homology_IMD 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 67 0 0 45 20 30.7692 ZNF750 0 genome.wustl.edu 37 17 80788538 80788538 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 80788538 80788538 A C SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known missense c.1652 p.L551R 0.830 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 118 0 0 86 10 10.4167 TBCD 0 genome.wustl.edu 37 17 80888470 80888470 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 80888470 80888470 T G SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.3064 p.F1022V 0.557 pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 65 0 0 35 3 7.89474 NTN1 0 genome.wustl.edu 37 17 8926112 8926112 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 8926112 8926112 A C SNP NTN1 ENST00000173229 human ensembl 74_37 +1 known missense c.422 p.K141T 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC ENSG00000065320 13 0 0 19 6 24 PTPN2 0 genome.wustl.edu 37 18 12817314 12817314 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 12817314 12817314 A C SNP PTPN2 ENST00000309660 human ensembl 74_37 -1 known missense c.546 p.D182E 1.000 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN2 HGNC ENSG00000175354 92 0 0 33 19 36.5385 RBBP8 0 genome.wustl.edu 37 18 20573460 20573460 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 20573460 20573460 A T SNP RBBP8 ENST00000327155 human ensembl 74_37 +1 known missense c.1670 p.E557V 0.832 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 73 0 0 43 13 23.2143 NDC80 0 genome.wustl.edu 37 18 2577822 2577822 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 2577822 2577822 T G SNP NDC80 ENST00000261597 human ensembl 74_37 +1 known missense c.257 p.L86R 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 91 0 0 68 15 18.0723 MAPRE2 0 genome.wustl.edu 37 18 32706943 32706943 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 32706943 32706943 A T SNP MAPRE2 ENST00000300249 human ensembl 74_37 +1 known silent c.642 p.P214 0.993 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE2 HGNC ENSG00000166974 99 0 0 50 9 15.2542 KIAA1328 0 genome.wustl.edu 37 18 34740221 34740221 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 34740221 34740221 C T SNP KIAA1328 ENST00000280020 human ensembl 74_37 +1 known missense c.1291 p.H431Y 0.000 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 30 0 0 21 5 19.2308 WDR7 0 genome.wustl.edu 37 18 54363663 54363663 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 54363663 54363663 T A SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known silent c.1548 p.T516 0.968 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom 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 84 0 0 43 7 14 SEC11C 0 genome.wustl.edu 37 18 56825903 56825903 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 56825903 56825903 A C SNP SEC11C ENST00000587834 human ensembl 74_37 +1 known missense c.565 p.K189Q 0.998 NULL pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B - no_errors SEC11C HGNC ENSG00000166562 82 0 0 40 8 16.6667 SERPINB4 0 genome.wustl.edu 37 18 61309092 61309092 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 61309092 61309092 A T SNP SERPINB4 ENST00000341074 human ensembl 74_37 -1 known missense c.253 p.F85I 0.973 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB4 HGNC ENSG00000206073 110 0 0 47 23 32.8571 SERPINB3 0 genome.wustl.edu 37 18 61326731 61326731 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 61326731 61326731 A T SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known missense c.253 p.F85I 0.917 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 158 0 0 88 12 12 SERPINB11 0 genome.wustl.edu 37 18 61377558 61377558 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 61377558 61377558 T G SNP SERPINB11 ENST00000538847 human ensembl 74_37 +1 known missense c.131 p.L44R 0.996 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 48 0 0 11 15 57.6923 SERPINB2 0 genome.wustl.edu 37 18 61564434 61564434 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 61564434 61564434 A C SNP SERPINB2 ENST00000299502 human ensembl 74_37 +1 known missense c.398 p.K133T 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 89 0 0 40 22 35.4839 LAMA1 0 genome.wustl.edu 37 18 6978368 6978368 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 6978368 6978368 T C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.6017 p.D2006G 0.028 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 92 0 0 40 14 25.9259 LRRC30 0 genome.wustl.edu 37 18 7231432 7231432 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 7231432 7231432 T G SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known missense c.296 p.L99R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 68 0 0 25 17 40.4762 SALL3 0 genome.wustl.edu 37 18 76754796 76754796 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 76754796 76754796 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known silent c.2805 p.T935 0.022 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 25 0 0 7 4 36.3636 SOGA2 0 genome.wustl.edu 37 18 8825346 8825346 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 8825346 8825346 T A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.3838 p.L1280M 0.988 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 64 0 0 31 8 20.5128 RALBP1 0 genome.wustl.edu 37 18 9535697 9535697 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 9535697 9535697 T G SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known missense c.1730 p.I577S 0.975 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 24 0 0 15 4 21.0526 RGL3 0 genome.wustl.edu 37 19 11515881 11515881 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 11515881 11515881 A G SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.1127 p.L376P 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 170 0 0 102 18 15 ZNF653 0 genome.wustl.edu 37 19 11597811 11597811 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 11597811 11597811 T C SNP ZNF653 ENST00000293771 human ensembl 74_37 -1 known missense c.1334 p.E445G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC ENSG00000161914 60 0 0 52 7 11.8644 ZNF441 0 genome.wustl.edu 37 19 11891643 11891643 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 11891643 11891643 C T SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1004 p.P335L 0.976 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 158 0 0 106 25 19.084 ZNF563 0 genome.wustl.edu 37 19 12429443 12429443 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 12429443 12429443 T G SNP ZNF563 ENST00000293725 human ensembl 74_37 -1 known silent c.1396 p.R466 0.002 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 ZNF563 HGNC ENSG00000188868 134 0 0 101 11 9.82143 ZNF442 0 genome.wustl.edu 37 19 12461443 12461443 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 12461443 12461443 T G SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known missense c.956 p.K319T 0.928 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 ZNF442 HGNC ENSG00000198342 288 0 0 230 31 11.8774 ZNF799 0 genome.wustl.edu 37 19 12502375 12502375 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 12502375 12502375 T C SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known silent c.837 p.K279 0.949 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 163 0 0 118 41 25.7862 PRKACA 0 genome.wustl.edu 37 19 14208394 14208394 + Missense_Mutation SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 14208394 14208394 G C SNP PRKACA ENST00000308677 human ensembl 74_37 -1 known missense c.639 p.S213R 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 67 0 0 52 15 22.3881 LPHN1 0 genome.wustl.edu 37 19 14271421 14271421 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 14271421 14271421 T G SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.1613 p.N538T 1.000 smart_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 17 0 0 15 3 16.6667 EMR2 0 genome.wustl.edu 37 19 14857053 14857053 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 14857053 14857053 C T SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.2174 p.R725Q 0.970 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 232 0 0 156 39 20 SLC1A6 0 genome.wustl.edu 37 19 15061178 15061178 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 15061178 15061178 G T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.1524 p.N508K 0.982 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 78 0 0 47 16 25.3968 OR10H2 0 genome.wustl.edu 37 19 15839343 15839343 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 15839343 15839343 T G SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known missense c.490 p.F164V 0.001 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 OR10H2 HGNC ENSG00000171942 90 0 0 66 13 16.4557 CPAMD8 0 genome.wustl.edu 37 19 17088246 17088246 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 17088246 17088246 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1831 p.V611I 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 101 0 0 54 21 28 UNC13A 0 genome.wustl.edu 37 19 17728589 17728589 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 17728589 17728589 A C SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.4744 p.L1582V 0.998 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 106 0 0 65 29 30.8511 GDF15 0 genome.wustl.edu 37 19 18499616 18499616 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 18499616 18499616 C T SNP GDF15 ENST00000252809 human ensembl 74_37 +1 known silent c.798 p.P266 0.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF15 HGNC ENSG00000130513 59 0 0 19 9 32.1429 ZNF93 0 genome.wustl.edu 37 19 20044675 20044675 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 20044675 20044675 A C SNP ZNF93 ENST00000343769 human ensembl 74_37 +1 known missense c.911 p.K304T 0.989 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 ZNF93 HGNC ENSG00000184635 49 0 0 38 11 22.449 ZNF493 0 genome.wustl.edu 37 19 21606364 21606364 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 21606364 21606364 T G SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known silent c.519 p.T173 0.410 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 93 0 0 64 20 23.8095 ZNF43 0 genome.wustl.edu 37 19 21990896 21990896 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 21990896 21990896 T G SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.1943 p.K648T 0.985 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 ZNF43 HGNC ENSG00000198521 76 0 0 43 10 18.8679 ZNF681 0 genome.wustl.edu 37 19 23927176 23927176 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 23927176 23927176 T G SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.1176 p.K392N 0.982 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 ZNF681 HGNC ENSG00000196172 86 0 0 40 15 27.2727 LMNB2 0 genome.wustl.edu 37 19 2433832 2433832 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 2433832 2433832 A G SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.1474 p.S492P 0.405 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 106 1 0.934579 63 23 26.7442 SGTA 0 genome.wustl.edu 37 19 2767593 2767593 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 2767593 2767593 C T SNP SGTA ENST00000221566 human ensembl 74_37 -1 known silent c.192 p.A64 0.402 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTA HGNC ENSG00000104969 47 0 0 36 6 14.2857 ZNF556 0 genome.wustl.edu 37 19 2877903 2877903 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 2877903 2877903 A C SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known missense c.947 p.K316T 0.013 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 ZNF556 HGNC ENSG00000172000 60 0 0 45 7 13.4615 ARHGAP33 0 genome.wustl.edu 37 19 36275211 36275211 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 36275211 36275211 A G SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.1559 p.D520G 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 193 1 0.515464 105 35 25 APLP1 0 genome.wustl.edu 37 19 36362645 36362645 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 36362645 36362645 T G SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known silent c.669 p.V223 0.931 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 63 0 0 41 6 12.766 PIP5K1C 0 genome.wustl.edu 37 19 3653457 3653457 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 3653457 3653457 T C SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known missense c.752 p.K251R 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 PIP5K1C HGNC ENSG00000186111 93 0 0 55 5 8.33333 ZFP82 0 genome.wustl.edu 37 19 36884189 36884189 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 36884189 36884189 T G SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known missense c.1053 p.Q351H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP82 HGNC ENSG00000181007 114 0 0 100 8 7.40741 ZFP82 0 genome.wustl.edu 37 19 36898797 36898797 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 36898797 36898797 A C SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known missense c.128 p.V43G 0.998 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 ZFP82 HGNC ENSG00000181007 106 0 0 79 7 8.13953 ZNF382 0 genome.wustl.edu 37 19 37117974 37117974 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 37117974 37117974 A C SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.1175 p.K392T 0.911 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 ZNF382 HGNC ENSG00000161298 100 0 0 79 22 21.7822 ZNF382 0 genome.wustl.edu 37 19 37118439 37118439 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 37118439 37118439 C T SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.1640 p.T547M 0.001 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 ZNF382 HGNC ENSG00000161298 84 0 0 67 5 6.94444 ZNF585A 0 genome.wustl.edu 37 19 37642494 37642494 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 37642494 37642494 A C SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known silent c.2307 p.A769 0.021 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ENSG00000196967 90 0 0 56 17 23.2877 ZNF793 0 genome.wustl.edu 37 19 38028502 38028502 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 38028502 38028502 T G SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.942 p.S314R 0.022 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 ZNF793 HGNC ENSG00000188227 47 0 0 29 16 35.5556 ZNF573 0 genome.wustl.edu 37 19 38230164 38230164 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 38230164 38230164 A T SNP ZNF573 ENST00000590414 human ensembl 74_37 -1 known silent c.1227 p.T409 0.999 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 ZNF573 HGNC ENSG00000189144 208 0 0 105 37 26.0563 ZNF573 0 genome.wustl.edu 37 19 38230495 38230495 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 38230495 38230495 T A SNP ZNF573 ENST00000590414 human ensembl 74_37 -1 known missense c.896 p.E299V 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 ZNF573 HGNC ENSG00000189144 145 0 0 98 11 10.0917 RYR1 0 genome.wustl.edu 37 19 38995497 38995497 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 38995497 38995497 A C SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.8177 p.K2726T 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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 63 0 0 49 13 20.9677 EIF3K 0 genome.wustl.edu 37 19 39123298 39123298 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 39123298 39123298 A G SNP EIF3K ENST00000248342 human ensembl 74_37 +1 known missense c.479 p.E160G 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold - no_errors EIF3K HGNC ENSG00000178982 57 0 0 21 12 36.3636 LRFN1 0 genome.wustl.edu 37 19 39805078 39805078 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 39805078 39805078 A C SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.899 p.L300R 0.998 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 13 0 0 14 9 39.1304 ATP1A3 0 genome.wustl.edu 37 19 42479813 42479813 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 42479813 42479813 T G SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.2231 p.N744T 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 109 0 0 78 23 22.7723 ATP1A3 0 genome.wustl.edu 37 19 42480634 42480634 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 42480634 42480634 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.2028 p.T676 0.001 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 75 0 0 47 22 31.8841 CEACAM8 0 genome.wustl.edu 37 19 43098046 43098046 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 43098046 43098046 A C SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known missense c.71 p.L24R 0.033 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM8 HGNC ENSG00000124469 178 0 0 109 33 23.2394 PSG8 0 genome.wustl.edu 37 19 43268119 43268119 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 43268119 43268119 C T SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known missense c.379 p.G127R 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 465 0 0 340 49 12.5964 MPND 0 genome.wustl.edu 37 19 4345893 4345893 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 4345893 4345893 A C SNP MPND ENST00000262966 human ensembl 74_37 +1 known missense c.446 p.K149T 1.000 NULL pfam_JAB_MPN_dom - no_errors MPND HGNC ENSG00000008382 59 0 0 37 18 32.7273 XRCC1 0 genome.wustl.edu 37 19 44050801 44050801 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 44050801 44050801 T C SNP XRCC1 ENST00000262887 human ensembl 74_37 -1 known missense c.1372 p.K458E 1.000 NULL pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 214 0 0 175 16 8.37696 CHAF1A 0 genome.wustl.edu 37 19 4409730 4409730 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 4409730 4409730 T G SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.934 p.F312V 0.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 102 0 0 78 15 16.129 ZNF224 0 genome.wustl.edu 37 19 44611504 44611504 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 44611504 44611504 A C SNP ZNF224 ENST00000336976 human ensembl 74_37 +1 known missense c.1191 p.E397D 0.998 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 ZNF224 HGNC ENSG00000267680 118 0 0 65 33 33.6735 SLC8A2 0 genome.wustl.edu 37 19 47951490 47951490 + Splice_Site SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 47951490 47951490 T A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known splice_site c.1341-2 e3-2 0.984 - - - no_errors SLC8A2 HGNC ENSG00000118160 57 0 0 23 5 17.8571 SLC8A2 0 genome.wustl.edu 37 19 47960262 47960262 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 47960262 47960262 T A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.1265 p.E422V 1.000 pfam_Calx_beta,smart_Calx_beta,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 15 0 0 17 5 22.7273 PLA2G4C 0 genome.wustl.edu 37 19 48608695 48608695 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 48608695 48608695 T G SNP PLA2G4C ENST00000413144 human ensembl 74_37 -1 known missense c.15 p.E5D 0.006 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4C HGNC ENSG00000105499 107 0 0 64 22 25.5814 MYBPC2 0 genome.wustl.edu 37 19 50951573 50951573 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 50951573 50951573 A C SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.1398 p.K466N 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 186 0 0 83 36 30.2521 SYT3 0 genome.wustl.edu 37 19 51129247 51129247 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 51129247 51129247 A C SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.1309 p.F437V 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 32 0 0 25 3 10.7143 SYT3 0 genome.wustl.edu 37 19 51140563 51140563 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 51140563 51140563 A C SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.106 p.F36V 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 94 0 0 42 12 22.2222 KLK10 0 genome.wustl.edu 37 19 51520422 51520422 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 51520422 51520422 G A SNP KLK10 ENST00000309958 human ensembl 74_37 -1 known silent c.213 p.C71 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK10 HGNC ENSG00000129451 31 0 0 13 9 40.9091 CD33 0 genome.wustl.edu 37 19 51742771 51742771 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 51742771 51742771 A G SNP CD33 ENST00000262262 human ensembl 74_37 +1 known splice_site c.925-2 e7-2 0.008 - - - no_errors CD33 HGNC ENSG00000105383 64 0 0 46 21 31.3433 ZNF480 0 genome.wustl.edu 37 19 52825169 52825169 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 52825169 52825169 A T SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.666 p.Q222H 0.003 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 ZNF480 HGNC ENSG00000198464 87 0 0 72 5 6.49351 ZNF816 0 genome.wustl.edu 37 19 53454176 53454176 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 53454176 53454176 A C SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known silent c.852 p.T284 0.919 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 200 0 0 154 23 12.9944 BIRC8 0 genome.wustl.edu 37 19 53793027 53793027 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 53793027 53793027 A C SNP BIRC8 ENST00000426466 human ensembl 74_37 -1 known missense c.601 p.F201V 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 145 0 0 75 32 29.9065 ZNF331 0 genome.wustl.edu 37 19 54079977 54079977 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 54079977 54079977 A C SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.163 p.S55R 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 67 0 0 48 13 21.3115 LILRA5 0 genome.wustl.edu 37 19 54823827 54823827 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 54823827 54823827 A G SNP LILRA5 ENST00000301219 human ensembl 74_37 -1 known missense c.68 p.L23P 0.001 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 62 0 0 31 6 16.2162 LENG8 0 genome.wustl.edu 37 19 54969734 54969734 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 54969734 54969734 C T SNP LENG8 ENST00000431846 human ensembl 74_37 +1 putative silent c.2274 p.L758 0.013 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 55 0 0 32 3 8.57143 NCR1 0 genome.wustl.edu 37 19 55421419 55421419 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 55421419 55421419 T G SNP NCR1 ENST00000291890 human ensembl 74_37 +1 known missense c.676 p.F226V 0.001 NULL smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 225 0 0 184 16 8 NLRP7 0 genome.wustl.edu 37 19 55451541 55451541 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 55451541 55451541 T C SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.730 p.S244G 0.959 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 NLRP7 HGNC ENSG00000167634 107 0 0 50 25 33.3333 NLRP7 0 genome.wustl.edu 37 19 55453089 55453089 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 55453089 55453089 A G SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.75 p.T25 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 NLRP7 HGNC ENSG00000167634 49 0 0 24 11 31.4286 SYT5 0 genome.wustl.edu 37 19 55686273 55686273 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 55686273 55686273 T G SNP SYT5 ENST00000354308 human ensembl 74_37 -1 known missense c.803 p.K268T 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 109 0 0 51 11 17.7419 BRSK1 0 genome.wustl.edu 37 19 55800909 55800909 + Nonsense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 55800909 55800909 A T SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known nonsense c.427 p.R143* 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 87 0 0 60 8 11.7647 ZNF628 0 genome.wustl.edu 37 19 55993985 55993985 + Missense_Mutation SNP C C G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 55993985 55993985 C G SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.1425 p.D475E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 43 0 0 28 5 15.1515 NLRP9 0 genome.wustl.edu 37 19 56249468 56249468 + Missense_Mutation SNP C C G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 56249468 56249468 C G SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.273 p.E91D 0.902 superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 834 0 0 606 78 11.4035 NLRP9 0 genome.wustl.edu 37 19 56249481 56249481 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 56249481 56249481 T G SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.260 p.K87T 0.111 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 821 0 0 577 76 11.6386 ZNF471 0 genome.wustl.edu 37 19 57036399 57036399 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 57036399 57036399 A G SNP ZNF471 ENST00000591537 human ensembl 74_37 +1 putative missense c.542 p.K181R 0.572 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 125 0 0 105 13 11.0169 ZNF264 0 genome.wustl.edu 37 19 57723710 57723710 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 57723710 57723710 G A SNP ZNF264 ENST00000263095 human ensembl 74_37 +1 known silent c.1245 p.K415 0.046 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 ZNF264 HGNC ENSG00000083844 66 0 0 54 13 19.403 ZNF548 0 genome.wustl.edu 37 19 57909914 57909914 + Nonsense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 57909914 57909914 G T SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known nonsense c.295 p.E99* 0.034 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 ZNF548 HGNC ENSG00000188785 127 0 0 75 18 19.3548 ZNF772 0 genome.wustl.edu 37 19 57985254 57985254 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 57985254 57985254 T C SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known silent c.858 p.R286 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 ZNF772 HGNC ENSG00000197128 132 0 0 89 34 27.6423 ZNF550 0 genome.wustl.edu 37 19 58059222 58059222 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 58059222 58059222 T G SNP ZNF550 ENST00000376230 human ensembl 74_37 -1 known missense c.390 p.E130D 0.192 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 ZNF550 HGNC ENSG00000251369 373 0 0 246 88 26.3473 ZNF550 0 genome.wustl.edu 37 19 58067709 58067709 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 58067709 58067709 T G SNP ZNF550 ENST00000376230 human ensembl 74_37 -1 known missense c.44 p.K15T 0.866 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 ZNF550 HGNC ENSG00000251369 134 0 0 65 22 25.2874 ZNF530 0 genome.wustl.edu 37 19 58117644 58117644 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 58117644 58117644 A G SNP ZNF530 ENST00000332854 human ensembl 74_37 +1 known missense c.751 p.S251G 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 ZNF530 HGNC ENSG00000183647 83 0 0 80 8 9.09091 ZNF154 0 genome.wustl.edu 37 19 58213775 58213775 + Missense_Mutation SNP C C A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 58213775 58213775 C A SNP ZNF154 ENST00000426889 human ensembl 74_37 -1 known missense c.542 p.R181I 0.044 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 ZNF154 HGNC ENSG00000179909 224 0 0 118 64 35.1648 ZSCAN18 0 genome.wustl.edu 37 19 58597553 58597553 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 58597553 58597553 T C SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.994 p.S332G 0.007 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 86 0 0 54 4 6.89655 TRIM28 0 genome.wustl.edu 37 19 59057202 59057202 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 59057202 59057202 G A SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known silent c.525 p.E175 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 82 0 0 69 9 11.5385 VAV1 0 genome.wustl.edu 37 19 6772985 6772985 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 6772985 6772985 A C SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.167 p.N56T 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,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_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 133 0 0 74 25 25.2525 ARHGEF18 0 genome.wustl.edu 37 19 7509198 7509198 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 7509198 7509198 G A SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.905 p.R302H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 67 0 0 36 19 34.5455 C19orf59 0 genome.wustl.edu 37 19 7742562 7742562 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 7742562 7742562 T G SNP C19orf59 ENST00000333598 human ensembl 74_37 +1 known missense c.134 p.F45C 0.988 NULL NULL - no_errors C19orf59 HGNC ENSG00000183019 88 0 0 58 13 18.3099 MUC16 0 genome.wustl.edu 37 19 9063622 9063622 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 9063622 9063622 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.23824 p.S7942A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 101 0 0 74 27 26.7327 MUC16 0 genome.wustl.edu 37 19 9073199 9073199 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 9073199 9073199 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.14247 p.A4749 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 125 0 0 116 13 10.0775 MUC16 0 genome.wustl.edu 37 19 9076652 9076652 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 9076652 9076652 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.10794 p.T3598 0.008 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 115 0 0 66 33 33.3333 ZNF699 0 genome.wustl.edu 37 19 9406765 9406765 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 9406765 9406765 T G SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known missense c.1315 p.K439Q 0.862 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 ZNF699 HGNC ENSG00000196110 69 0 0 65 4 5.7971 ZNF560 0 genome.wustl.edu 37 19 9578937 9578937 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 19 9578937 9578937 A G SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.686 p.L229P 0.096 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 115 0 0 80 14 14.8936 EIF5B 0 genome.wustl.edu 37 2 100015285 100015285 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 100015285 100015285 A C SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.3468 p.E1156D 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 44 0 0 25 4 13.7931 AFF3 0 genome.wustl.edu 37 2 100217911 100217911 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 100217911 100217911 A C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.1432 p.F478V 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 21 0 0 10 7 41.1765 RRM2 0 genome.wustl.edu 37 2 10269377 10269377 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 10269377 10269377 A C SNP RRM2 ENST00000360566 human ensembl 74_37 +1 known missense c.1214 p.N405T 1.000 pfam_RNR_small,superfamily_Ferritin-like_SF pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2 HGNC ENSG00000171848 95 0 0 62 23 27.0588 RGPD3 0 genome.wustl.edu 37 2 107073515 107073515 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 107073515 107073515 T G SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.317 p.K106T 0.697 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 134 0 0 98 18 15.5172 RGPD4 0 genome.wustl.edu 37 2 108488388 108488388 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 108488388 108488388 A C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3928 p.N1310H 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 292 0 0 179 72 28.6853 GCC2 0 genome.wustl.edu 37 2 109103051 109103051 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 109103051 109103051 A C SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.3877 p.S1293R 0.001 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 80 0 0 44 24 35.2941 GCC2 0 genome.wustl.edu 37 2 109116111 109116111 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 109116111 109116111 T C SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known silent c.4885 p.L1629 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 482 0 0 402 35 8.00915 CYP27C1 0 genome.wustl.edu 37 2 127956986 127956986 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 127956986 127956986 T G SNP CYP27C1 ENST00000335247 human ensembl 74_37 -1 known missense c.518 p.N173T 0.958 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27C1 HGNC ENSG00000186684 112 0 0 94 9 8.73786 ERCC3 0 genome.wustl.edu 37 2 128050327 128050327 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 128050327 128050327 T C SNP ERCC3 ENST00000285398 human ensembl 74_37 -1 known silent c.330 p.P110 0.945 tigrfam_Helicase_Ercc3 pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 107 0 0 66 28 29.7872 SAP130 0 genome.wustl.edu 37 2 128707874 128707874 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 128707874 128707874 T G SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.2609 p.K870T 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 165 0 0 99 12 10.8108 IMP4 0 genome.wustl.edu 37 2 131103502 131103502 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 131103502 131103502 A T SNP IMP4 ENST00000259239 human ensembl 74_37 +1 known missense c.590 p.K197M 0.999 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors IMP4 HGNC ENSG00000136718 65 0 0 30 6 16.6667 LCT 0 genome.wustl.edu 37 2 136561695 136561695 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 136561695 136561695 T A SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.4468 p.T1490S 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 67 0 0 54 9 14.2857 NEB 0 genome.wustl.edu 37 2 152423760 152423760 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 152423760 152423760 A C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.18078 p.N6026K 0.989 smart_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 133 0 0 86 17 16.5049 NEB 0 genome.wustl.edu 37 2 152520300 152520300 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 152520300 152520300 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.5525 p.K1842T 1.000 pfam_Nebulin_35r-motif,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 64 0 0 43 15 25.8621 NBAS 0 genome.wustl.edu 37 2 15607836 15607836 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 15607836 15607836 T A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.1970 p.K657M 0.001 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 38 0 0 29 12 29.2683 SCN3A 0 genome.wustl.edu 37 2 166011114 166011114 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 166011114 166011114 A T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.1228 p.L410M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 104 0 0 76 5 6.17284 SCN2A 0 genome.wustl.edu 37 2 166210929 166210929 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 166210929 166210929 A C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.3147 p.K1049N 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 100 0 0 65 6 8.4507 SCN2A 0 genome.wustl.edu 37 2 166237231 166237231 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 166237231 166237231 A G SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.4438 p.K1480E 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 36 0 0 43 5 10.4167 TTC21B 0 genome.wustl.edu 37 2 166797624 166797624 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 166797624 166797624 A C SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.623 p.F208C 1.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 77 0 0 58 8 12.1212 SCN1A 0 genome.wustl.edu 37 2 166901752 166901752 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 166901752 166901752 T G SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1463 p.K488T 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 211 0 0 169 35 17.1569 XIRP2 0 genome.wustl.edu 37 2 168104634 168104634 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 168104634 168104634 T G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.6732 p.T2244 0.788 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 105 0 0 51 18 26.087 B3GALT1 0 genome.wustl.edu 37 2 168725911 168725911 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 168725911 168725911 A C SNP B3GALT1 ENST00000305861 human ensembl 74_37 +1 known missense c.362 p.N121T 0.988 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC ENSG00000172318 81 0 0 70 16 18.6047 FASTKD1 0 genome.wustl.edu 37 2 170387195 170387195 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 170387195 170387195 A C SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known missense c.2344 p.L782V 1.000 pfam_RAP,smart_RAP pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 77 0 0 87 6 6.45161 SSB 0 genome.wustl.edu 37 2 170657518 170657518 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 170657518 170657518 A C SNP SSB ENST00000260956 human ensembl 74_37 +1 known missense c.48 p.K16N 1.000 smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors SSB HGNC ENSG00000138385 80 0 0 70 7 9.09091 AGPS 0 genome.wustl.edu 37 2 178386063 178386063 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 178386063 178386063 T C SNP AGPS ENST00000264167 human ensembl 74_37 +1 known silent c.1764 p.I588 0.987 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 92 0 0 89 6 6.31579 OSBPL6 0 genome.wustl.edu 37 2 179257153 179257153 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179257153 179257153 A C SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2473 p.N825H 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 95 0 0 55 16 22.5352 TTN 0 genome.wustl.edu 37 2 179449266 179449266 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179449266 179449266 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.57308 p.V19103A 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 71 0 0 60 12 16.6667 TTN 0 genome.wustl.edu 37 2 179455636 179455636 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179455636 179455636 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.53112 p.P17704 0.998 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 163 0 0 96 38 28.3582 TTN 0 genome.wustl.edu 37 2 179528765 179528765 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179528765 179528765 T C SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.36341 p.K12114R 0.324 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 117 0 0 107 7 6.14035 TTN 0 genome.wustl.edu 37 2 179576069 179576069 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179576069 179576069 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.24162 p.K8054N 0.995 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 87 0 0 37 14 27.451 TTN 0 genome.wustl.edu 37 2 179577516 179577516 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179577516 179577516 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.23504 p.F7835C 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 57 0 0 62 4 6.06061 TTN 0 genome.wustl.edu 37 2 179577970 179577970 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179577970 179577970 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.23159 p.N7720S 0.883 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 28 0 0 24 6 20 TTN-AS1 0 genome.wustl.edu 37 2 179578948 179578948 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179578948 179578948 A C SNP TTN-AS1 ENST00000431752 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 84 0 0 60 27 31.0345 TTN 0 genome.wustl.edu 37 2 179595420 179595420 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179595420 179595420 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14108 p.P4703H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 110 0 0 84 19 18.4466 TTN 0 genome.wustl.edu 37 2 179610355 179610355 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179610355 179610355 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.16772 p.K5591T 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 101 0 0 92 7 7.07071 TTN 0 genome.wustl.edu 37 2 179639750 179639750 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179639750 179639750 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.6688 p.F2230I 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 102 0 0 75 8 9.63855 TTN 0 genome.wustl.edu 37 2 179641097 179641097 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179641097 179641097 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5494 p.T1832P 0.165 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 154 0 0 104 37 26.2411 CWC22 0 genome.wustl.edu 37 2 180835492 180835492 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 180835492 180835492 T G SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.1032 p.K344N 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 71 0 0 75 7 8.53659 SSFA2 0 genome.wustl.edu 37 2 182794355 182794355 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 182794355 182794355 T G SNP SSFA2 ENST00000320370 human ensembl 74_37 +1 known missense c.3743 p.I1248S 0.196 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 153 0 0 100 34 25.3731 ZSWIM2 0 genome.wustl.edu 37 2 187693238 187693238 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 187693238 187693238 T G SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known missense c.1375 p.K459Q 0.008 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 64 0 0 63 6 8.69565 ANKAR 0 genome.wustl.edu 37 2 190554291 190554291 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 190554291 190554291 A C SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.640 p.I214L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 121 0 0 99 39 28.2609 ANKAR 0 genome.wustl.edu 37 2 190554626 190554626 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 190554626 190554626 T G SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.975 p.F325L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 78 0 0 66 12 15.3846 ANKAR 0 genome.wustl.edu 37 2 190585496 190585496 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 190585496 190585496 T G SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.2618 p.F873C 0.993 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 195 0 0 184 24 11.5385 PMS1 0 genome.wustl.edu 37 2 190719033 190719033 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 190719033 190719033 T C SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known silent c.1035 p.S345 1.000 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 75 0 0 66 16 19.5122 PMS1 0 genome.wustl.edu 37 2 190719376 190719376 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 190719376 190719376 A C SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known missense c.1378 p.S460R 0.000 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 95 0 0 89 6 6.31579 SLC39A10 0 genome.wustl.edu 37 2 196545252 196545252 + Silent SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 196545252 196545252 G T SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known silent c.486 p.V162 0.001 NULL pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 122 0 0 81 24 22.8571 PGAP1 0 genome.wustl.edu 37 2 197712683 197712683 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 197712683 197712683 T G SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.1940 p.K647T 0.999 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 68 0 0 69 18 20.6897 BOLL 0 genome.wustl.edu 37 2 198641795 198641795 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 198641795 198641795 T G SNP BOLL ENST00000321801 human ensembl 74_37 -1 known missense c.300 p.K100N 1.000 pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors BOLL HGNC ENSG00000152430 57 0 0 45 11 19.6429 TRAK2 0 genome.wustl.edu 37 2 202245793 202245793 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 202245793 202245793 T A SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.2218 p.S740C 0.970 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 180 0 0 133 24 15.2866 ABI2 0 genome.wustl.edu 37 2 204291994 204291994 + Splice_Site SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 204291994 204291994 T G SNP ABI2 ENST00000464761 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.999 - - - no_errors ABI2 HGNC ENSG00000138443 63 0 0 47 21 30.8824 PUM2 0 genome.wustl.edu 37 2 20508339 20508339 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 20508339 20508339 A T SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known silent c.525 p.T175 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 76 0 0 67 6 8.21918 MDH1B 0 genome.wustl.edu 37 2 207621681 207621681 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 207621681 207621681 T A SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.354 p.K118N 0.003 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 76 0 0 61 8 11.5942 PIKFYVE 0 genome.wustl.edu 37 2 209179076 209179076 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 209179076 209179076 G A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known silent c.1755 p.L585 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 66 0 0 73 5 6.41026 APOB 0 genome.wustl.edu 37 2 21228452 21228452 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 21228452 21228452 A C SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.11288 p.L3763R 0.984 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 188 0 0 128 56 30.4348 APOB 0 genome.wustl.edu 37 2 21235329 21235329 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 21235329 21235329 A C SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.4411 p.L1471V 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 93 0 0 87 16 15.534 SPAG16 0 genome.wustl.edu 37 2 214794832 214794832 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 214794832 214794832 T C SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1363 p.S455P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 87 0 0 57 22 27.8481 TNS1 0 genome.wustl.edu 37 2 218712817 218712817 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 218712817 218712817 T C SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.2048 p.Q683R 0.998 NULL 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 54 0 0 34 5 12.8205 TNS1 0 genome.wustl.edu 37 2 218713280 218713280 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 218713280 218713280 T C SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.1585 p.S529G 1.000 NULL 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 76 0 0 68 7 9.33333 CXCR1 0 genome.wustl.edu 37 2 219029780 219029780 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 219029780 219029780 A C SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known missense c.155 p.L52R 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 186 0 0 150 17 10.1796 PLCD4 0 genome.wustl.edu 37 2 219483332 219483332 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 219483332 219483332 A C SNP PLCD4 ENST00000417849 human ensembl 74_37 +1 known missense c.212 p.N71T 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_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 PLCD4 HGNC ENSG00000115556 39 0 0 31 9 22.5 GLB1L 0 genome.wustl.edu 37 2 220101987 220101987 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 220101987 220101987 A G SNP GLB1L ENST00000295759 human ensembl 74_37 -1 known missense c.1772 p.F591S 0.996 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 66 0 0 50 6 10.7143 EPHA4 0 genome.wustl.edu 37 2 222428958 222428958 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 222428958 222428958 T A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.316 p.R106W 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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 EPHA4 HGNC ENSG00000116106 177 0 0 146 11 7.00637 SCG2 0 genome.wustl.edu 37 2 224463728 224463728 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 224463728 224463728 T G SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.273 p.K91N 0.997 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 123 0 0 110 6 5.17241 SLC19A3 0 genome.wustl.edu 37 2 228560750 228560750 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 228560750 228560750 G A SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.1027 p.L343F 0.411 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 105 0 0 74 19 20.4301 SPHKAP 0 genome.wustl.edu 37 2 228846499 228846499 + Nonsense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 228846499 228846499 G T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known nonsense c.5037 p.C1679* 1.000 pfam_AKAP_110_C pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 76 0 0 75 20 21.0526 SPHKAP 0 genome.wustl.edu 37 2 228881411 228881411 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 228881411 228881411 A C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.4159 p.L1387V 0.001 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 112 0 0 112 10 8.19672 FBXO36 0 genome.wustl.edu 37 2 230861562 230861562 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 230861562 230861562 T C SNP FBXO36 ENST00000283946 human ensembl 74_37 +1 known silent c.301 p.L101 0.024 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO36 HGNC ENSG00000153832 172 0 0 136 18 11.6883 SLC16A14 0 genome.wustl.edu 37 2 230910769 230910769 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 230910769 230910769 A C SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.1073 p.I358S 0.956 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 73 0 0 50 12 19.3548 TRAF3IP1 0 genome.wustl.edu 37 2 239234574 239234574 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 239234574 239234574 A G SNP TRAF3IP1 ENST00000373327 human ensembl 74_37 +1 known missense c.317 p.E106G 1.000 NULL NULL - no_errors TRAF3IP1 HGNC ENSG00000204104 53 0 0 48 9 15.7895 HDAC4 0 genome.wustl.edu 37 2 240055966 240055966 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 240055966 240055966 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known silent c.1269 p.P423 0.609 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 48 0 0 36 3 7.69231 ATAD2B 0 genome.wustl.edu 37 2 24118816 24118816 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 24118816 24118816 T G SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.241 p.S81R 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 40 0 0 15 12 44.4444 SNED1 0 genome.wustl.edu 37 2 241992724 241992724 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 241992724 241992724 T G SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.2238 p.S746R 0.989 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 75 0 0 54 20 27.027 DRC1 0 genome.wustl.edu 37 2 26647191 26647191 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 26647191 26647191 A T SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.409 p.I137F 1.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 175 0 0 175 22 11.1675 OTOF 0 genome.wustl.edu 37 2 26697508 26697508 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 26697508 26697508 T G SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3161 p.K1054T 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 73 0 0 51 6 10.5263 DPYSL5 0 genome.wustl.edu 37 2 27165557 27165557 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 27165557 27165557 A C SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.1379 p.K460T 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 99 0 0 71 15 17.4419 C2orf16 0 genome.wustl.edu 37 2 27804228 27804228 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 27804228 27804228 A C SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.4789 p.N1597H 0.003 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 176 0 0 138 40 22.4719 C2orf71 0 genome.wustl.edu 37 2 29296021 29296021 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 29296021 29296021 G A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known silent c.1107 p.T369 0.969 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 80 0 0 74 12 13.9535 C2orf71 0 genome.wustl.edu 37 2 29296170 29296170 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 29296170 29296170 G A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.958 p.R320C 0.009 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 143 0 0 107 29 21.3235 EHD3 0 genome.wustl.edu 37 2 31483561 31483561 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 31483561 31483561 A C SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known missense c.688 p.M230L 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 86 0 0 49 9 15.5172 BIRC6 0 genome.wustl.edu 37 2 32828139 32828139 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 32828139 32828139 A C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.14059 p.S4687R 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 40 0 0 31 9 22.5 SOS1 0 genome.wustl.edu 37 2 39251221 39251221 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 39251221 39251221 T A SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.1132 p.T378S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 SOS1 HGNC ENSG00000115904 52 0 0 50 9 15.2542 PLEKHH2 0 genome.wustl.edu 37 2 43991482 43991482 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 43991482 43991482 T G SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.4274 p.L1425R 1.000 pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 79 0 0 50 9 15.2542 PREPL 0 genome.wustl.edu 37 2 44571048 44571048 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 44571048 44571048 A C SNP PREPL ENST00000260648 human ensembl 74_37 -1 known missense c.452 p.L151R 1.000 pfam_Pept_S9A_N pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 77 0 0 102 9 8.10811 SOCS5 0 genome.wustl.edu 37 2 46985924 46985924 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 46985924 46985924 A T SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known missense c.255 p.E85D 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 104 0 0 76 7 8.43373 ACYP2 0 genome.wustl.edu 37 2 54531856 54531856 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 54531856 54531856 A G SNP ACYP2 ENST00000394666 human ensembl 74_37 +1 known missense c.217 p.S73G 0.961 pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase - no_errors ACYP2 HGNC ENSG00000170634 61 0 0 46 9 16.3636 MTIF2 0 genome.wustl.edu 37 2 55476576 55476576 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 55476576 55476576 T G SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.936 p.E312D 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 94 0 0 63 30 32.2581 USP34 0 genome.wustl.edu 37 2 61508340 61508340 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 61508340 61508340 T G SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.5036 p.K1679T 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 43 0 0 28 6 17.6471 AFTPH 0 genome.wustl.edu 37 2 64778718 64778718 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 64778718 64778718 T G SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.110 p.V37G 0.991 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 204 0 0 154 47 23.3831 DYSF 0 genome.wustl.edu 37 2 71828584 71828584 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 71828584 71828584 T G SNP DYSF ENST00000472873 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DYSF HGNC ENSG00000135636 82 0 0 69 17 19.7674 ALMS1 0 genome.wustl.edu 37 2 73650099 73650099 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 73650099 73650099 T A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.761 p.L254Q 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 157 0 0 129 24 15.6863 HTRA2 0 genome.wustl.edu 37 2 74757775 74757775 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 74757775 74757775 T C SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known missense c.538 p.S180P 1.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 78 0 0 58 6 9.375 SEMA4F 0 genome.wustl.edu 37 2 74902419 74902419 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 74902419 74902419 T A SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.1280 p.L427Q 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,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 60 0 0 38 5 11.6279 ASAP2 0 genome.wustl.edu 37 2 9498920 9498920 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 9498920 9498920 A T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.1363 p.T455S 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP 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 292 0 0 246 23 8.55019 CNNM4 0 genome.wustl.edu 37 2 97474441 97474441 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 97474441 97474441 T G SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.2092 p.F698V 1.000 superfamily_cNMP-bd-like pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 84 0 0 40 26 39.3939 VWA3B 0 genome.wustl.edu 37 2 98809455 98809455 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 98809455 98809455 A T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1561 p.S521C 0.983 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 110 0 0 109 6 5.21739 TSGA10 0 genome.wustl.edu 37 2 99681472 99681472 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 99681472 99681472 A C SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.1334 p.L445R 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 90 0 0 75 25 25 SPTLC3 0 genome.wustl.edu 37 20 13140768 13140768 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 13140768 13140768 A G SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.1534 p.M512V 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 83 0 0 56 29 34.1176 PCSK2 0 genome.wustl.edu 37 20 17410104 17410104 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 17410104 17410104 A C SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.645 p.E215D 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel 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 195 0 0 208 16 7.14286 RRBP1 0 genome.wustl.edu 37 20 17607995 17607995 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 17607995 17607995 A G SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known silent c.2961 p.T987 0.944 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 35 0 0 35 5 12.5 SEC23B 0 genome.wustl.edu 37 20 18492909 18492909 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 18492909 18492909 T C SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.262 p.C88R 1.000 pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 29 0 0 45 6 11.7647 SCP2D1 0 genome.wustl.edu 37 20 18794785 18794785 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 18794785 18794785 C T SNP SCP2D1 ENST00000377428 human ensembl 74_37 +1 known missense c.326 p.T109I 0.997 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom - no_errors SCP2D1 HGNC ENSG00000132631 86 0 0 75 15 16.6667 CRNKL1 0 genome.wustl.edu 37 20 20028462 20028462 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 20028462 20028462 T G SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.1052 p.N351T 1.000 pfam_Suf,smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 72 0 0 63 14 18.1818 XRN2 0 genome.wustl.edu 37 20 21314715 21314715 + Splice_Site SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 21314715 21314715 G A SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known splice_site c.1126-1 e13-1 1.000 - - - no_errors XRN2 HGNC ENSG00000088930 64 0 0 81 6 6.89655 ZNF343 0 genome.wustl.edu 37 20 2463832 2463832 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 2463832 2463832 A G SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known missense c.1775 p.L592P 0.005 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 ZNF343 HGNC ENSG00000088876 76 0 0 69 9 11.5385 ACSS1 0 genome.wustl.edu 37 20 24989958 24989958 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 24989958 24989958 T A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.1838 p.K613M 0.106 tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 210 0 0 169 24 12.4352 NINL 0 genome.wustl.edu 37 20 25478915 25478915 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 25478915 25478915 A G SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.1100 p.L367P 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 56 0 0 39 9 18.75 NINL 0 genome.wustl.edu 37 20 25478973 25478973 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 25478973 25478973 A T SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.1042 p.F348I 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 28 0 0 36 8 18.1818 DEFB124 0 genome.wustl.edu 37 20 30053417 30053417 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 30053417 30053417 A C SNP DEFB124 ENST00000317676 human ensembl 74_37 -1 known silent c.108 p.T36 0.484 NULL NULL - no_errors DEFB124 HGNC ENSG00000180383 98 0 0 116 16 12.1212 ASXL1 0 genome.wustl.edu 37 20 31022897 31022897 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 31022897 31022897 T G SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known silent c.2382 p.T794 0.009 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 79 0 0 101 19 15.8333 BPIFB6 0 genome.wustl.edu 37 20 31627238 31627238 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 31627238 31627238 A G SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.986 p.K329R 0.999 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 184 0 0 216 39 15.2941 BPIFB4 0 genome.wustl.edu 37 20 31671658 31671658 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 31671658 31671658 A C SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.655 p.S219R 0.999 pfam_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 55 0 0 62 7 10.1449 BPIFA1 0 genome.wustl.edu 37 20 31825526 31825526 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 31825526 31825526 A C SNP BPIFA1 ENST00000354297 human ensembl 74_37 +1 known missense c.9 p.Q3H 0.000 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 83 0 0 86 7 7.52688 BPIFA1 0 genome.wustl.edu 37 20 31829261 31829261 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 31829261 31829261 T G SNP BPIFA1 ENST00000354297 human ensembl 74_37 +1 known missense c.652 p.L218V 0.496 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 231 0 0 259 50 16.1812 C20orf194 0 genome.wustl.edu 37 20 3278685 3278685 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 3278685 3278685 A C SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known missense c.1920 p.F640L 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 118 0 0 116 13 10.0775 MMP24 0 genome.wustl.edu 37 20 33859460 33859460 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 33859460 33859460 A C SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known missense c.1422 p.E474D 0.996 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 29 0 0 14 7 33.3333 CTNNBL1 0 genome.wustl.edu 37 20 36500394 36500394 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 36500394 36500394 G A SNP CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known silent c.1590 p.L530 1.000 NULL pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 81 0 0 77 9 10.4651 TTI1 0 genome.wustl.edu 37 20 36625208 36625208 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 36625208 36625208 T C SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.2941 p.K981E 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 229 0 0 238 48 16.7832 SIGLEC1 0 genome.wustl.edu 37 20 3678698 3678698 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 3678698 3678698 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known silent c.1869 p.L623 0.799 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,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 33 0 0 17 3 15 KIAA1755 0 genome.wustl.edu 37 20 36848101 36848101 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 36848101 36848101 A C SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known silent c.2487 p.A829 0.001 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 146 0 0 161 25 13.4409 BPI 0 genome.wustl.edu 37 20 36936031 36936031 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 36936031 36936031 T A SNP BPI ENST00000262865 human ensembl 74_37 +1 known missense c.205 p.S69T 0.019 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPI HGNC ENSG00000101425 114 0 0 130 26 16.6667 PPP1R16B 0 genome.wustl.edu 37 20 37464672 37464672 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 37464672 37464672 A C SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.104 p.K35T 1.000 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 12 0 0 12 6 33.3333 MAFB 0 genome.wustl.edu 37 20 39316595 39316595 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 39316595 39316595 T C SNP MAFB ENST00000373313 human ensembl 74_37 -1 known missense c.896 p.E299G 1.000 pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC ENSG00000204103 130 0 0 96 23 19.3277 L3MBTL1 0 genome.wustl.edu 37 20 42161533 42161533 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 42161533 42161533 T G SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.1339 p.F447V 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 97 0 0 120 20 14.2857 KCNS1 0 genome.wustl.edu 37 20 43726484 43726484 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 43726484 43726484 A C SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known missense c.929 p.I310S 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 30 0 0 35 7 16.6667 SEMG2 0 genome.wustl.edu 37 20 43851860 43851860 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 43851860 43851860 A C SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.1587 p.Q529H 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 84 0 0 95 17 15.1786 NEURL2 0 genome.wustl.edu 37 20 44519175 44519175 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 44519175 44519175 A C SNP NEURL2 ENST00000372518 human ensembl 74_37 -1 known missense c.456 p.F152L 0.886 pfscan_Neu_Z pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 72 0 0 92 11 10.6796 PLTP 0 genome.wustl.edu 37 20 44527644 44527644 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 44527644 44527644 T C SNP PLTP ENST00000542937 human ensembl 74_37 -1 known missense c.1478 p.E493G 1.000 NULL pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 82 0 0 83 10 10.7527 CDH22 0 genome.wustl.edu 37 20 44815501 44815501 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 44815501 44815501 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known silent c.1509 p.Y503 0.976 pfam_Cadherin,superfamily_Cadherin-like,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 181 0 0 203 42 17.1429 PRND 0 genome.wustl.edu 37 20 4705711 4705711 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 4705711 4705711 T C SNP PRND ENST00000305817 human ensembl 74_37 +1 known missense c.514 p.W172R 0.024 pfam_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 44 0 0 24 6 20 PARD6B 0 genome.wustl.edu 37 20 49366531 49366531 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 49366531 49366531 T G SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known missense c.625 p.L209V 0.001 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 132 1 0.75188 153 13 7.83133 KCNG1 0 genome.wustl.edu 37 20 49621273 49621273 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 49621273 49621273 T C SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.845 p.E282G 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 15 0 0 11 3 21.4286 SALL4 0 genome.wustl.edu 37 20 50407880 50407880 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 50407880 50407880 T G SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.1142 p.K381T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 105 0 0 101 17 14.4068 ZNF217 0 genome.wustl.edu 37 20 52193563 52193563 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 52193563 52193563 A C SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known silent c.1740 p.P580 0.134 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 145 0 0 168 43 20.3791 ZNF217 0 genome.wustl.edu 37 20 52199470 52199470 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 52199470 52199470 A C SNP ZNF217 ENST00000540425 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ZNF217 HGNC ENSG00000171940 27 0 0 38 5 11.6279 RTFDC1 0 genome.wustl.edu 37 20 55093316 55093316 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 55093316 55093316 T G SNP RTFDC1 ENST00000357348 human ensembl 74_37 +1 known missense c.1006 p.F336V 1.000 NULL pfam_Rtf2_RING-finger - no_errors RTFDC1 HGNC ENSG00000022277 118 0 0 116 9 7.2 BMP7 0 genome.wustl.edu 37 20 55758840 55758840 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 55758840 55758840 C T SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known missense c.896 p.R299H 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 113 0 0 91 23 20.1754 RAE1 0 genome.wustl.edu 37 20 55948568 55948568 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 55948568 55948568 A C SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known missense c.680 p.K227T 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 80 0 0 79 14 15.0538 APCDD1L 0 genome.wustl.edu 37 20 57036043 57036043 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 57036043 57036043 T C SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known missense c.1342 p.S448G 1.000 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 158 0 0 101 8 7.33945 MIR298 0 genome.wustl.edu 37 20 57393330 57393330 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 57393330 57393330 A C SNP MIR298 ENST00000401212 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR298 HGNC ENSG00000216031 29 0 0 17 10 37.037 TRMT6 0 genome.wustl.edu 37 20 5924813 5924813 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 5924813 5924813 T G SNP TRMT6 ENST00000203001 human ensembl 74_37 -1 known missense c.453 p.K151N 1.000 pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 31 0 0 27 6 18.1818 TAF4 0 genome.wustl.edu 37 20 60575731 60575731 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 60575731 60575731 A C SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.2533 p.L845V 0.994 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 131 0 0 127 9 6.61765 LAMA5 0 genome.wustl.edu 37 20 60913663 60913663 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 60913663 60913663 A C SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.1479 p.N493K 1.000 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 13 0 0 16 3 15.7895 GID8 0 genome.wustl.edu 37 20 61576119 61576119 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 61576119 61576119 T G SNP GID8 ENST00000266069 human ensembl 74_37 +1 known missense c.542 p.L181R 0.998 pfam_CTLH/CRA,smart_CRA_dom pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC ENSG00000101193 77 0 0 76 8 9.52381 COL20A1 0 genome.wustl.edu 37 20 61938879 61938879 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 20 61938879 61938879 T C SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known silent c.534 p.A178 0.003 smart_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 52 0 0 44 5 10.2041 TPTE 0 genome.wustl.edu 37 21 10944689 10944689 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 10944689 10944689 T G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.545 p.K182T 0.000 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 230 0 0 206 28 11.9658 POTED 0 genome.wustl.edu 37 21 14982737 14982737 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 14982737 14982737 A T SNP POTED ENST00000299443 human ensembl 74_37 +1 known missense c.188 p.K63M 0.038 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 POTED HGNC ENSG00000166351 23 0 0 10 3 23.0769 NRIP1 0 genome.wustl.edu 37 21 16337791 16337791 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 16337791 16337791 T C SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.2723 p.E908G 0.996 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 167 0 0 111 24 17.7778 APP 0 genome.wustl.edu 37 21 27369596 27369596 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 27369596 27369596 A C SNP APP ENST00000491395 human ensembl 74_37 -1 putative rna NULL NULL 0.174 - - - no_errors APP HGNC ENSG00000142192 31 0 0 29 5 14.7059 GRIK1 0 genome.wustl.edu 37 21 31023581 31023581 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 31023581 31023581 T C SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.811 p.R271G 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 55 0 0 57 11 16.1765 KRTAP19-8 0 genome.wustl.edu 37 21 32410734 32410734 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 32410734 32410734 C T SNP KRTAP19-8 ENST00000382822 human ensembl 74_37 -1 known missense c.29 p.G10D 0.022 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-8 HGNC ENSG00000206102 261 0 0 152 45 22.8426 ENSG00000207098 0 genome.wustl.edu 37 21 34214206 34214206 + RNA SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 34214206 34214206 A G SNP ENSG00000207098 ENST00000384370 human ensembl 74_37 -1 novel rna NULL NULL 0.167 - - - no_errors SNORA70 RFAM ENSG00000207098 54 0 0 35 9 20.4545 LCA5L 0 genome.wustl.edu 37 21 40778399 40778399 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 40778399 40778399 T G SNP LCA5L ENST00000288350 human ensembl 74_37 -1 known missense c.1422 p.E474D 0.000 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 72 0 0 71 6 7.79221 UMODL1 0 genome.wustl.edu 37 21 43547856 43547856 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 43547856 43547856 T A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.3989 p.I1330N 0.997 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom 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 59 0 0 42 11 20.7547 PDE9A 0 genome.wustl.edu 37 21 44151886 44151886 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 44151886 44151886 T G SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.269 p.V90G 0.002 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 111 0 0 77 9 10.4651 TRAPPC10 0 genome.wustl.edu 37 21 45499968 45499968 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 45499968 45499968 G A SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known silent c.1683 p.Q561 0.996 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 49 0 0 34 11 24.4444 TRPM2 0 genome.wustl.edu 37 21 45837923 45837923 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 45837923 45837923 T G SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.3260 p.L1087R 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 110 0 0 62 9 12.6761 PCNT 0 genome.wustl.edu 37 21 47810619 47810619 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 21 47810619 47810619 A C SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.3875 p.E1292A 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 50 0 0 35 15 30 POTEH 0 genome.wustl.edu 37 22 16287707 16287707 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 16287707 16287707 T G SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.179 p.K60T 0.000 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 POTEH HGNC ENSG00000198062 517 0 0 359 73 16.8981 CECR2 0 genome.wustl.edu 37 22 18028887 18028887 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 18028887 18028887 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.3844 p.A1282T 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 140 0 0 72 31 30.0971 HIRA 0 genome.wustl.edu 37 22 19363240 19363240 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 19363240 19363240 T C SNP HIRA ENST00000263208 human ensembl 74_37 -1 known silent c.1689 p.K563 1.000 NULL 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 82 0 0 66 10 13.1579 MED15 0 genome.wustl.edu 37 22 20920938 20920938 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 20920938 20920938 A G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.875 p.Q292R 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 206 0 0 115 16 12.2137 SLC7A4 0 genome.wustl.edu 37 22 21384460 21384460 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 21384460 21384460 T G SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.1163 p.E388A 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 41 0 0 27 3 10 BCR 0 genome.wustl.edu 37 22 23615951 23615951 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 23615951 23615951 A C SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.2105 p.K702T 1.000 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 121 0 0 63 11 14.8649 BCR 0 genome.wustl.edu 37 22 23627247 23627247 + Nonsense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 23627247 23627247 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known nonsense c.2265 p.W755* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 45 0 0 35 4 10.2564 RFPL1 0 genome.wustl.edu 37 22 29838005 29838005 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 29838005 29838005 T C SNP RFPL1 ENST00000354373 human ensembl 74_37 +1 known missense c.848 p.F283S 0.005 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL1 HGNC ENSG00000128250 100 0 0 95 5 5 NEFH 0 genome.wustl.edu 37 22 29885569 29885569 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 29885569 29885569 A C SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.1940 p.K647T 0.857 pfam_DUF1388 pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 176 0 0 122 11 8.27068 NEFH 0 genome.wustl.edu 37 22 29886668 29886668 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 29886668 29886668 A G SNP NEFH ENST00000310624 human ensembl 74_37 +1 known silent c.3039 p.E1013 0.956 NULL pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 52 0 0 38 7 15.5556 CCDC157 0 genome.wustl.edu 37 22 30772518 30772518 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 30772518 30772518 A T SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known silent c.2043 p.P681 0.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC157 HGNC ENSG00000187860 247 1 0.403226 84 91 52 SH3BP1 0 genome.wustl.edu 37 22 38061576 38061576 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 38061576 38061576 G T SNP SH3BP1 ENST00000599616 human ensembl 74_37 +1 known missense c.1516 p.A506S 0.900 superfamily_HAD-like_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 57 0 0 42 4 8.69565 MIEF1 0 genome.wustl.edu 37 22 39908397 39908397 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 39908397 39908397 T C SNP MIEF1 ENST00000428069 human ensembl 74_37 +1 known missense c.397 p.C133R 0.335 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 87 0 0 72 7 8.86076 TCF20 0 genome.wustl.edu 37 22 42609755 42609755 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 42609755 42609755 T C SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known silent c.1557 p.L519 0.668 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 315 0 0 207 34 14.1079 CELSR1 0 genome.wustl.edu 37 22 46860029 46860029 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 46860029 46860029 A C SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.3758 p.V1253G 0.993 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 67 0 0 26 32 55.1724 PPP6R2 0 genome.wustl.edu 37 22 50857310 50857310 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 22 50857310 50857310 T A SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known silent c.633 p.A211 0.249 pfam_SAPS,superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 140 0 0 94 35 27.1318 ABI3BP 0 genome.wustl.edu 37 3 100595371 100595371 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 100595371 100595371 T G SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.751 p.T251P 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 48 0 0 31 12 27.907 IMPG2 0 genome.wustl.edu 37 3 100963575 100963575 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 100963575 100963575 T A SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1600 p.S534C 0.974 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 84 0 0 67 10 12.987 IRAK2 0 genome.wustl.edu 37 3 10255072 10255072 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 10255072 10255072 A C SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.710 p.K237T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 90 0 0 54 15 21.7391 CBLB 0 genome.wustl.edu 37 3 105378018 105378018 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 105378018 105378018 T A SNP CBLB ENST00000264122 human ensembl 74_37 -1 known silent c.2745 p.P915 0.767 superfamily_UBA-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 86 0 0 71 18 20.2247 CCDC54 0 genome.wustl.edu 37 3 107097406 107097406 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 107097406 107097406 A C SNP CCDC54 ENST00000261058 human ensembl 74_37 +1 known missense c.972 p.E324D 1.000 NULL NULL - no_errors CCDC54 HGNC ENSG00000138483 61 0 0 48 14 22.5806 KIAA2018 0 genome.wustl.edu 37 3 113375311 113375311 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 113375311 113375311 T G SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.5218 p.S1740R 0.677 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 142 0 0 117 24 17.0213 IGSF11 0 genome.wustl.edu 37 3 118645003 118645003 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 118645003 118645003 A C SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known silent c.525 p.T175 0.995 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 94 0 0 90 18 16.6667 B4GALT4 0 genome.wustl.edu 37 3 118948756 118948756 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 118948756 118948756 G A SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known missense c.191 p.T64I 0.005 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT4 HGNC ENSG00000121578 92 0 0 69 24 25.8065 MAATS1 0 genome.wustl.edu 37 3 119426380 119426380 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 119426380 119426380 C T SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.331 p.H111Y 0.018 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 67 0 0 57 5 8.06452 POLQ 0 genome.wustl.edu 37 3 121238762 121238762 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 121238762 121238762 T A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.1424 p.K475M 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,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 252 0 0 240 33 12.0879 FBXO40 0 genome.wustl.edu 37 3 121340935 121340935 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 121340935 121340935 A C SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.659 p.N220T 0.998 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 60 0 0 71 20 21.978 HCLS1 0 genome.wustl.edu 37 3 121376066 121376066 + RNA SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 121376066 121376066 A G SNP HCLS1 ENST00000468693 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HCLS1 HGNC ENSG00000180353 186 0 0 165 20 10.8108 GOLGB1 0 genome.wustl.edu 37 3 121414777 121414777 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 121414777 121414777 T G SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.4578 p.Q1526H 0.949 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 183 0 0 179 58 24.4726 GOLGB1 0 genome.wustl.edu 37 3 121415485 121415485 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 121415485 121415485 A G SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known silent c.3870 p.S1290 0.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 90 0 0 70 10 12.5 EAF2 0 genome.wustl.edu 37 3 121573582 121573582 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 121573582 121573582 T C SNP EAF2 ENST00000273668 human ensembl 74_37 +1 known silent c.250 p.L84 1.000 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 79 0 0 78 5 6.0241 CCDC58 0 genome.wustl.edu 37 3 122090532 122090532 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 122090532 122090532 A C SNP CCDC58 ENST00000291458 human ensembl 74_37 -1 known missense c.167 p.L56R 1.000 pfam_Caffeine_induced_death_Cid2 pfam_Caffeine_induced_death_Cid2 - no_errors CCDC58 HGNC ENSG00000160124 114 0 0 109 7 6.03448 PARP14 0 genome.wustl.edu 37 3 122418264 122418264 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 122418264 122418264 T C SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.863 p.L288P 0.282 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 49 0 0 23 30 56.6038 PARP14 0 genome.wustl.edu 37 3 122418777 122418777 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 122418777 122418777 A C SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.1376 p.K459T 0.001 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 45 0 0 43 16 27.1186 ALDH1L1 0 genome.wustl.edu 37 3 125854444 125854444 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 125854444 125854444 T G SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.1406 p.K469T 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 71 0 0 63 13 17.1053 KIAA1257 0 genome.wustl.edu 37 3 128706568 128706568 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 128706568 128706568 T C SNP KIAA1257 ENST00000265068 human ensembl 74_37 -1 known silent c.558 p.K186 0.998 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 63 0 0 67 12 15.1899 IFT122 0 genome.wustl.edu 37 3 129195557 129195557 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 129195557 129195557 A G SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.1213 p.T405A 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 119 0 0 94 26 21.6667 IFT122 0 genome.wustl.edu 37 3 129233240 129233240 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 129233240 129233240 T A SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.3149 p.L1050H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 63 0 0 46 10 17.8571 TMCC1 0 genome.wustl.edu 37 3 129389315 129389315 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 129389315 129389315 A T SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known missense c.1369 p.S457T 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 115 0 0 101 14 12.1739 COL6A6 0 genome.wustl.edu 37 3 130286941 130286941 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 130286941 130286941 A C SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.1894 p.S632R 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 85 0 0 49 37 43.0233 ACAD11 0 genome.wustl.edu 37 3 132345663 132345663 + Splice_Site SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 132345663 132345663 T G SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known splice_site c.1071-2 e9-2 0.990 - - - no_errors ACAD11 HGNC ENSG00000240303 41 0 0 51 4 7.27273 TOPBP1 0 genome.wustl.edu 37 3 133339089 133339089 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 133339089 133339089 A G SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.3281 p.L1094P 0.967 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 67 0 0 65 11 14.4737 RAB6B 0 genome.wustl.edu 37 3 133557075 133557075 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 133557075 133557075 G A SNP RAB6B ENST00000285208 human ensembl 74_37 -1 known missense c.430 p.R144C 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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 RAB6B HGNC ENSG00000154917 166 1 0.598802 147 47 24.2268 NUP210 0 genome.wustl.edu 37 3 13427890 13427890 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 13427890 13427890 T G SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.702 p.E234D 0.985 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 119 0 0 74 27 26.7327 ARMC8 0 genome.wustl.edu 37 3 137942279 137942279 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 137942279 137942279 T G SNP ARMC8 ENST00000469044 human ensembl 74_37 +1 known silent c.243 p.T81 0.470 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 92 0 0 77 21 21.4286 TRIM42 0 genome.wustl.edu 37 3 140407025 140407025 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 140407025 140407025 G A SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.1501 p.G501R 0.793 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 79 0 0 101 6 5.60748 XRN1 0 genome.wustl.edu 37 3 142103387 142103387 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 142103387 142103387 A C SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.2480 p.F827C 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 91 0 0 86 27 23.8938 ATR 0 genome.wustl.edu 37 3 142231116 142231116 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 142231116 142231116 T G SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.4838 p.K1613T 0.144 NULL pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 93 0 0 80 7 8.04598 SLC9A9 0 genome.wustl.edu 37 3 143214209 143214209 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 143214209 143214209 T C SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known missense c.1171 p.I391V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 104 0 0 127 21 14.1892 PLOD2 0 genome.wustl.edu 37 3 145790437 145790437 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 145790437 145790437 A C SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.1759 p.F587V 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 48 0 0 58 9 13.4328 C3orf20 0 genome.wustl.edu 37 3 14731604 14731604 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 14731604 14731604 A C SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.726 p.K242N 0.010 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 70 0 0 76 6 7.31707 ZFYVE20 0 genome.wustl.edu 37 3 15116058 15116058 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 15116058 15116058 T G SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.1586 p.E529A 0.993 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 182 0 0 120 33 21.5686 IGSF10 0 genome.wustl.edu 37 3 151165878 151165878 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 151165878 151165878 T G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.1891 p.R631 0.964 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 101 0 0 116 11 8.66142 TIPARP 0 genome.wustl.edu 37 3 156413677 156413677 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 156413677 156413677 A C SNP TIPARP ENST00000295924 human ensembl 74_37 +1 known missense c.1110 p.E370D 1.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 99 0 0 85 11 11.4583 IL12A 0 genome.wustl.edu 37 3 159713282 159713282 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 159713282 159713282 T G SNP IL12A ENST00000305579 human ensembl 74_37 +1 known missense c.698 p.L233R 1.000 pfam_IL-12_alpha,superfamily_4_helix_cytokine-like_core pfam_IL-12_alpha,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC ENSG00000168811 133 0 0 107 30 21.8978 BCHE 0 genome.wustl.edu 37 3 165548648 165548648 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 165548648 165548648 T G SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.174 p.G58 0.671 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 87 0 0 85 6 6.59341 SERPINI1 0 genome.wustl.edu 37 3 167510376 167510376 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 167510376 167510376 A G SNP SERPINI1 ENST00000295777 human ensembl 74_37 +1 known splice_site c.482-2 e3-2 0.974 - - - no_errors SERPINI1 HGNC ENSG00000163536 48 0 0 57 8 12.3077 LRRC31 0 genome.wustl.edu 37 3 169578490 169578490 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 169578490 169578490 A G SNP LRRC31 ENST00000316428 human ensembl 74_37 -1 known silent c.346 p.L116 0.996 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 104 0 0 85 10 10.5263 SLC7A14 0 genome.wustl.edu 37 3 170201299 170201299 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 170201299 170201299 A C SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.919 p.L307V 0.719 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 97 0 0 111 13 10.4839 TNIK 0 genome.wustl.edu 37 3 170797363 170797363 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 170797363 170797363 T C SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.3392 p.K1131R 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 42 0 0 22 11 33.3333 ECT2 0 genome.wustl.edu 37 3 172533486 172533486 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 172533486 172533486 A C SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.2400 p.K800N 1.000 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 67 0 0 68 10 12.8205 SPATA16 0 genome.wustl.edu 37 3 172607480 172607480 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 172607480 172607480 A C SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known silent c.1590 p.V530 1.000 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 60 0 0 67 5 6.94444 SPATA16 0 genome.wustl.edu 37 3 172835109 172835109 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 172835109 172835109 T G SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known missense c.413 p.E138A 1.000 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 137 0 0 107 26 19.5489 PIK3CA 0 genome.wustl.edu 37 3 178941911 178941911 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 178941911 178941911 T A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.2230 p.F744I 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 106 0 0 58 57 49.5652 PEX5L 0 genome.wustl.edu 37 3 179525470 179525470 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 179525470 179525470 G A SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known silent c.1668 p.G556 0.439 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 220 0 0 141 88 38.4279 MCCC1 0 genome.wustl.edu 37 3 182755192 182755192 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 182755192 182755192 A G SNP MCCC1 ENST00000265594 human ensembl 74_37 -1 known silent c.1408 p.L470 0.997 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom 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 47 0 0 48 4 7.69231 ABCC5 0 genome.wustl.edu 37 3 183669329 183669329 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 183669329 183669329 A G SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known silent c.2844 p.H948 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 93 0 0 101 28 21.7054 EPHB3 0 genome.wustl.edu 37 3 184294690 184294690 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 184294690 184294690 A C SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.1073 p.E358A 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 141 0 0 136 12 8.10811 EPHB3 0 genome.wustl.edu 37 3 184297675 184297675 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 184297675 184297675 A C SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.2125 p.I709L 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 124 0 0 99 28 22.0472 ETV5 0 genome.wustl.edu 37 3 185766624 185766624 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 185766624 185766624 T G SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known missense c.1463 p.K488T 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 35 0 0 51 6 10.5263 DNAJB11 0 genome.wustl.edu 37 3 186290034 186290034 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 186290034 186290034 T G SNP DNAJB11 ENST00000265028 human ensembl 74_37 +1 known silent c.219 p.A73 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB11 HGNC ENSG00000090520 48 0 0 42 14 25 TMEM207 0 genome.wustl.edu 37 3 190167579 190167579 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 190167579 190167579 A G SNP TMEM207 ENST00000354905 human ensembl 74_37 -1 known missense c.20 p.F7S 0.012 NULL NULL - no_errors TMEM207 HGNC ENSG00000198398 72 0 0 67 6 8.21918 ZDHHC19 0 genome.wustl.edu 37 3 195937536 195937536 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 195937536 195937536 G A SNP ZDHHC19 ENST00000296326 human ensembl 74_37 -1 known silent c.219 p.F73 0.994 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 50 0 0 30 27 47.3684 KAT2B 0 genome.wustl.edu 37 3 20187855 20187855 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 20187855 20187855 T G SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known silent c.2052 p.V684 0.985 pirsf_Hist_acetylase_PCAF 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 177 0 0 147 18 10.9091 NEK10 0 genome.wustl.edu 37 3 27297800 27297800 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 27297800 27297800 T G SNP NEK10 ENST00000341435 human ensembl 74_37 -1 known missense c.2077 p.I693L 0.990 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,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 NEK10 HGNC ENSG00000163491 41 0 0 25 7 21.875 CNTN4 0 genome.wustl.edu 37 3 2787211 2787211 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 2787211 2787211 A C SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.188 p.K63T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 121 0 0 89 31 25.8333 OSBPL10 0 genome.wustl.edu 37 3 31725256 31725256 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 31725256 31725256 T G SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.1596 p.Q532H 0.952 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 150 0 0 108 13 10.7438 TRIM71 0 genome.wustl.edu 37 3 32860404 32860404 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 32860404 32860404 T A SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.832 p.C278S 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 138 0 0 78 26 25 CLASP2 0 genome.wustl.edu 37 3 33648173 33648173 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 33648173 33648173 T C SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.1604 p.K535R 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 86 0 0 66 31 31.9588 GOLGA4 0 genome.wustl.edu 37 3 37368464 37368464 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 37368464 37368464 A C SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.5087 p.K1696T 0.001 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 152 0 0 139 26 15.7576 XYLB 0 genome.wustl.edu 37 3 38454461 38454461 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 38454461 38454461 T C SNP XYLB ENST00000207870 human ensembl 74_37 +1 known missense c.1568 p.L523P 0.057 NULL pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N - no_errors XYLB HGNC ENSG00000093217 100 0 0 65 20 23.5294 SCN10A 0 genome.wustl.edu 37 3 38835305 38835305 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 38835305 38835305 A G SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.197 p.F66S 0.997 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 164 0 0 144 14 8.86076 SCN11A 0 genome.wustl.edu 37 3 38926878 38926878 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 38926878 38926878 T A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.2965 p.S989C 0.143 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 67 0 0 60 9 13.0435 SCN11A 0 genome.wustl.edu 37 3 38936103 38936103 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 38936103 38936103 A C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.2756 p.L919R 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 158 1 0.628931 124 50 28.7356 SCN11A 0 genome.wustl.edu 37 3 38968335 38968335 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 38968335 38968335 T A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.576 p.R192 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 152 1 0.653595 101 41 28.8732 RPSA 0 genome.wustl.edu 37 3 39452321 39452321 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 39452321 39452321 A T SNP RPSA ENST00000301821 human ensembl 74_37 +1 known missense c.329 p.N110I 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,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 56 0 0 54 7 11.4754 ZNF621 0 genome.wustl.edu 37 3 40574022 40574022 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 40574022 40574022 A G SNP ZNF621 ENST00000339296 human ensembl 74_37 +1 known missense c.761 p.Q254R 0.809 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 ZNF621 HGNC ENSG00000172888 72 0 0 62 6 8.82353 CTNNB1 0 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 41266097 41266097 G C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.94 p.D32H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 59 0 0 29 12 29.2683 CCDC13-AS1 0 genome.wustl.edu 37 3 42787595 42787595 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 42787595 42787595 A C SNP CCDC13-AS1 ENST00000418161 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC13-AS1 HGNC ENSG00000173811 22 0 0 16 10 38.4615 ZNF662 0 genome.wustl.edu 37 3 42956217 42956217 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 42956217 42956217 A C SNP ZNF662 ENST00000328199 human ensembl 74_37 +1 known missense c.730 p.K244Q 0.981 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 ZNF662 HGNC ENSG00000182983 131 0 0 121 17 12.3188 ZNF501 0 genome.wustl.edu 37 3 44776252 44776252 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 44776252 44776252 A C SNP ZNF501 ENST00000396048 human ensembl 74_37 +1 known missense c.339 p.K113N 0.190 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 98 0 0 71 26 26.8041 LARS2 0 genome.wustl.edu 37 3 45557745 45557745 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 45557745 45557745 A C SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known missense c.2021 p.K674T 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 195 0 0 115 11 8.73016 SLC6A20 0 genome.wustl.edu 37 3 45811859 45811859 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 45811859 45811859 T A SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known missense c.940 p.S314C 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 55 0 0 45 7 13.4615 SETD2 0 genome.wustl.edu 37 3 47142946 47142946 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 47142946 47142946 A G SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known splice_site c.5015+2 e8+2 1.000 - - - no_errors SETD2 HGNC ENSG00000181555 192 0 0 144 46 24.2105 DHX30 0 genome.wustl.edu 37 3 47890551 47890551 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 47890551 47890551 A T SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.2911 p.S971C 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 125 0 0 87 11 11.2245 CELSR3 0 genome.wustl.edu 37 3 48699754 48699754 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 48699754 48699754 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.314 p.P105L 0.019 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 251 0 0 130 40 23.5294 NCKIPSD 0 genome.wustl.edu 37 3 48717555 48717555 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 48717555 48717555 A C SNP NCKIPSD ENST00000294129 human ensembl 74_37 -1 known missense c.1200 p.S400R 1.000 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC ENSG00000213672 92 0 0 45 16 26.2295 MST1R 0 genome.wustl.edu 37 3 49940444 49940444 + Missense_Mutation SNP G G C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 49940444 49940444 G C SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.599 p.A200G 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 44 0 0 36 15 29.4118 HEMK1 0 genome.wustl.edu 37 3 50608706 50608706 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 50608706 50608706 C T SNP HEMK1 ENST00000232854 human ensembl 74_37 +1 known silent c.171 p.I57 0.995 NULL pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK - no_errors HEMK1 HGNC ENSG00000114735 90 0 0 57 9 13.6364 RAD54L2 0 genome.wustl.edu 37 3 51671359 51671359 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 51671359 51671359 T C SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.1522 p.F508L 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 27 0 0 28 7 20 RAD54L2 0 genome.wustl.edu 37 3 51697390 51697390 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 51697390 51697390 A C SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.4358 p.D1453A 0.997 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 59 0 0 48 9 15.7895 RRP9 0 genome.wustl.edu 37 3 51969429 51969429 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 51969429 51969429 A G SNP RRP9 ENST00000232888 human ensembl 74_37 -1 known silent c.900 p.A300 0.013 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RRP9 HGNC ENSG00000114767 52 0 0 46 4 8 BAP1 0 genome.wustl.edu 37 3 52437539 52437539 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 52437539 52437539 A C SNP BAP1 ENST00000460680 human ensembl 74_37 -1 known missense c.1622 p.V541G 1.000 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 87 0 0 53 13 19.697 EDEM1 0 genome.wustl.edu 37 3 5246886 5246886 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 5246886 5246886 A C SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known missense c.1177 p.N393H 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 97 0 0 71 26 26.8041 PBRM1 0 genome.wustl.edu 37 3 52620677 52620677 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 52620677 52620677 A C SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.3151 p.F1051V 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_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 105 0 0 49 21 30 TKT 0 genome.wustl.edu 37 3 53274289 53274289 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 53274289 53274289 C T SNP TKT ENST00000423525 human ensembl 74_37 -1 known missense c.415 p.G139S 1.000 pfam_Transketolase_N,pfam_DH_E1 pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC ENSG00000163931 105 0 0 60 13 17.8082 PXK 0 genome.wustl.edu 37 3 58377558 58377558 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 58377558 58377558 T G SNP PXK ENST00000356151 human ensembl 74_37 +1 known missense c.599 p.L200R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 101 0 0 87 14 13.8614 ACOX2 0 genome.wustl.edu 37 3 58519189 58519189 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 58519189 58519189 T A SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known missense c.566 p.K189I 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 138 0 0 90 5 5.26316 TMF1 0 genome.wustl.edu 37 3 69096977 69096977 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 69096977 69096977 A C SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known missense c.879 p.F293L 0.999 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 75 0 0 57 5 8.06452 CNTN3 0 genome.wustl.edu 37 3 74418407 74418407 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 74418407 74418407 A C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.879 p.G293 0.203 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 57 0 0 40 12 23.0769 ROBO1 0 genome.wustl.edu 37 3 78655933 78655933 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 78655933 78655933 T C SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.4694 p.N1565S 0.985 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 565 0 0 395 139 26.03 ROBO1 0 genome.wustl.edu 37 3 78735060 78735060 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 78735060 78735060 A C SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.1178 p.L393R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 12 0 0 5 7 58.3333 CADM2 0 genome.wustl.edu 37 3 86028312 86028312 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 86028312 86028312 A G SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known splice_site c.950-2 e8-2 1.000 - - - no_errors CADM2 HGNC ENSG00000175161 261 0 0 170 56 24.7788 EPHA3 0 genome.wustl.edu 37 3 89176368 89176368 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 89176368 89176368 T G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.98 p.L33R 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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 EPHA3 HGNC ENSG00000044524 60 0 0 54 18 25 ARL13B 0 genome.wustl.edu 37 3 93761872 93761872 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 93761872 93761872 T C SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known missense c.812 p.L271P 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 38 0 0 21 9 30 CRYBG3 0 genome.wustl.edu 37 3 97596378 97596378 + Nonsense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 97596378 97596378 A T SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known nonsense c.496 p.R166* 0.976 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 89 0 0 83 29 25.8929 OR5H6 0 genome.wustl.edu 37 3 97983357 97983357 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 97983357 97983357 T G SNP OR5H6 ENST00000383696 human ensembl 74_37 +1 known missense c.229 p.L77V 0.130 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 OR5H6 HGNC ENSG00000230301 313 0 0 227 84 27.0096 IL17RC 0 genome.wustl.edu 37 3 9975191 9975191 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 3 9975191 9975191 G A SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known missense c.2290 p.D764N 0.999 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 19 0 0 8 5 38.4615 ADH1B 0 genome.wustl.edu 37 4 100232006 100232006 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 100232006 100232006 T G SNP ADH1B ENST00000305046 human ensembl 74_37 -1 known missense c.1019 p.K340T 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1B HGNC ENSG00000196616 160 0 0 129 12 8.51064 ADH1B 0 genome.wustl.edu 37 4 100237376 100237376 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 100237376 100237376 T G SNP ADH1B ENST00000305046 human ensembl 74_37 -1 known missense c.343 p.N115H 0.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1B HGNC ENSG00000196616 76 0 0 66 12 15.3846 DKK2 0 genome.wustl.edu 37 4 107846993 107846993 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 107846993 107846993 T C SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel silent c.336 p.R112 1.000 pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 188 0 0 102 41 28.6713 EGF 0 genome.wustl.edu 37 4 110862293 110862293 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 110862293 110862293 A C SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.319 p.R107 0.966 pirsf_Pro-epidermal_GF,smart_LDLR_classB_rpt pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 47 0 0 47 16 25.3968 ENPEP 0 genome.wustl.edu 37 4 111482701 111482701 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 111482701 111482701 T G SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.2861 p.L954R 0.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 57 0 0 37 10 21.2766 ANK2 0 genome.wustl.edu 37 4 114278039 114278039 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 114278039 114278039 A C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.8265 p.E2755D 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 98 0 0 56 25 30.8642 SEC24D 0 genome.wustl.edu 37 4 119666127 119666127 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 119666127 119666127 T G SNP SEC24D ENST00000379735 human ensembl 74_37 -1 known missense c.1799 p.K600T 0.933 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 82 0 0 95 7 6.86275 SYNPO2 0 genome.wustl.edu 37 4 119951776 119951776 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 119951776 119951776 T G SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.1846 p.F616V 0.974 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 154 0 0 87 31 26.2712 KIAA1109 0 genome.wustl.edu 37 4 123091861 123091861 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 123091861 123091861 T G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.59 p.L20R 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 49 0 0 29 15 34.0909 IL21 0 genome.wustl.edu 37 4 123542014 123542014 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 123542014 123542014 A C SNP IL21 ENST00000264497 human ensembl 74_37 -1 known missense c.153 p.N51K 0.515 pfam_IL-15/IL-21_fam pfam_IL-15/IL-21_fam - no_errors IL21 HGNC ENSG00000138684 93 0 0 59 31 34.4444 PHF17 0 genome.wustl.edu 37 4 129767570 129767570 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 129767570 129767570 A G SNP PHF17 ENST00000226319 human ensembl 74_37 +1 known missense c.179 p.D60G 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 199 0 0 145 31 17.6136 SMARCA5 0 genome.wustl.edu 37 4 144468627 144468627 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 144468627 144468627 A G SNP SMARCA5 ENST00000283131 human ensembl 74_37 +1 known missense c.2743 p.I915V 1.000 pfam_SLIDE,superfamily_Homeodomain-like pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,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 SMARCA5 HGNC ENSG00000153147 98 0 0 83 5 5.68182 GYPB 0 genome.wustl.edu 37 4 144918742 144918742 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 144918742 144918742 A T SNP GYPB ENST00000283126 human ensembl 74_37 -1 known missense c.221 p.I74N 0.003 pfam_Glycophorin pfam_Glycophorin - no_errors GYPB HGNC ENSG00000250361 55 0 0 39 12 23.5294 NR3C2 0 genome.wustl.edu 37 4 149356384 149356384 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 149356384 149356384 A C SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known silent c.1629 p.S543 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 101 0 0 105 12 10.2564 KIAA0922 0 genome.wustl.edu 37 4 154553945 154553945 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 154553945 154553945 A C SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.4283 p.N1428T 0.078 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 94 0 0 58 20 25.641 DCHS2 0 genome.wustl.edu 37 4 155243495 155243495 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 155243495 155243495 A T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.2799 p.V933 0.063 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 73 0 0 56 14 20 NPY2R 0 genome.wustl.edu 37 4 156135225 156135225 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 156135225 156135225 A G SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known missense c.134 p.K45R 0.999 prints_NPY2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 62 0 0 45 18 28.5714 CD38 0 genome.wustl.edu 37 4 15826541 15826541 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 15826541 15826541 A G SNP CD38 ENST00000226279 human ensembl 74_37 +1 known missense c.401 p.Q134R 0.001 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors CD38 HGNC ENSG00000004468 73 0 0 66 12 15.3846 SLBP 0 genome.wustl.edu 37 4 1696553 1696553 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 1696553 1696553 A C SNP SLBP ENST00000489418 human ensembl 74_37 -1 known missense c.644 p.L215R 0.908 NULL NULL - no_errors SLBP HGNC ENSG00000163950 111 0 0 86 5 5.49451 HMGB2 0 genome.wustl.edu 37 4 174254250 174254250 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 174254250 174254250 T G SNP HMGB2 ENST00000296503 human ensembl 74_37 -1 known missense c.266 p.K89T 0.998 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB2 HGNC ENSG00000164104 264 0 0 178 33 15.6398 FBXO8 0 genome.wustl.edu 37 4 175183927 175183927 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 175183927 175183927 A C SNP FBXO8 ENST00000393674 human ensembl 74_37 -1 known missense c.317 p.L106R 1.000 superfamily_F-box_dom,pfscan_F-box_dom pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_F-box_dom,smart_Sec7_dom,pfscan_F-box_dom,pfscan_Sec7_dom - no_errors FBXO8 HGNC ENSG00000164117 55 0 0 39 11 22 LAP3 0 genome.wustl.edu 37 4 17586723 17586723 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 17586723 17586723 T A SNP LAP3 ENST00000226299 human ensembl 74_37 +1 known missense c.668 p.L223H 0.990 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 124 0 0 84 10 10.6383 STOX2 0 genome.wustl.edu 37 4 184938289 184938289 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 184938289 184938289 A C SNP STOX2 ENST00000308497 human ensembl 74_37 +1 known missense c.2633 p.N878T 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 33 0 0 31 14 31.1111 ENPP6 0 genome.wustl.edu 37 4 185012349 185012349 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 185012349 185012349 A T SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known missense c.1304 p.L435H 0.030 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 99 0 0 82 25 23.3645 LGI2 0 genome.wustl.edu 37 4 25028556 25028556 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 25028556 25028556 A C SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.275 p.L92R 1.000 smart_Leu-rich_rpt_typical-subtyp 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 73 0 0 43 20 31.746 RBPJ 0 genome.wustl.edu 37 4 26430438 26430438 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 26430438 26430438 A C SNP RBPJ ENST00000342295 human ensembl 74_37 +1 known silent c.883 p.R295 1.000 pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 49 0 0 25 12 32.4324 ZNF732 0 genome.wustl.edu 37 4 265143 265143 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 265143 265143 A C SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known silent c.1503 p.P501 0.799 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 ZNF732 HGNC ENSG00000186777 10 0 0 6 4 40 TLR10 0 genome.wustl.edu 37 4 38776650 38776650 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 38776650 38776650 A C SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known missense c.562 p.L188V 0.757 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 90 0 0 79 30 27.5229 RFC1 0 genome.wustl.edu 37 4 39301996 39301996 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 39301996 39301996 T C SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known silent c.2577 p.G859 0.982 superfamily_DNA_pol3_clamp-load_cplx_C,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 66 0 0 54 8 12.9032 PHOX2B 0 genome.wustl.edu 37 4 41748224 41748224 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 41748224 41748224 T G SNP PHOX2B ENST00000226382 human ensembl 74_37 -1 known missense c.545 p.D182A 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors PHOX2B HGNC ENSG00000109132 91 0 0 47 8 14.5455 DCAF4L1 0 genome.wustl.edu 37 4 41984471 41984471 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 41984471 41984471 T G SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.662 p.F221C 0.972 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 242 0 0 179 34 15.9624 GABRB1 0 genome.wustl.edu 37 4 47322225 47322225 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 47322225 47322225 T A SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.543 p.S181R 0.939 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 48 0 0 44 13 22.807 LRRC66 0 genome.wustl.edu 37 4 52861969 52861969 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 52861969 52861969 T G SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1219 p.K407Q 0.054 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 101 0 0 73 10 12.0482 KDR 0 genome.wustl.edu 37 4 55962481 55962481 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 55962481 55962481 A G SNP KDR ENST00000263923 human ensembl 74_37 -1 known silent c.2643 p.A881 0.984 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_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 94 0 0 47 28 37.3333 UGT2A2 0 genome.wustl.edu 37 4 70505259 70505259 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 70505259 70505259 T G SNP UGT2A2 ENST00000457664 human ensembl 74_37 -1 known missense c.100 p.I34L 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A2 HGNC ENSG00000271271 70 0 0 58 23 28.3951 MUC7 0 genome.wustl.edu 37 4 71346711 71346711 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 71346711 71346711 T G SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known missense c.250 p.F84V 0.000 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 119 0 0 95 21 18.1034 SLC4A4 0 genome.wustl.edu 37 4 72413427 72413427 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 72413427 72413427 C T SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.2684 p.P895L 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 158 0 0 118 8 6.34921 PARM1 0 genome.wustl.edu 37 4 75937967 75937967 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 75937967 75937967 A C SNP PARM1 ENST00000307428 human ensembl 74_37 +1 known missense c.376 p.S126R 0.001 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 193 0 0 146 16 9.87654 C4orf26 0 genome.wustl.edu 37 4 76489614 76489614 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 76489614 76489614 A C SNP C4orf26 ENST00000435974 human ensembl 74_37 +1 putative missense c.402 p.E134D 0.000 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 209 0 0 183 17 8.5 CDKL2 0 genome.wustl.edu 37 4 76532367 76532367 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 76532367 76532367 T C SNP CDKL2 ENST00000429927 human ensembl 74_37 -1 known missense c.542 p.K181R 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 CDKL2 HGNC ENSG00000138769 82 0 0 54 13 19.403 CXCL10 0 genome.wustl.edu 37 4 76944543 76944543 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 76944543 76944543 C T SNP CXCL10 ENST00000306602 human ensembl 74_37 -1 known silent c.42 p.L14 0.946 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL10 HGNC ENSG00000169245 93 0 0 78 8 9.30233 ART3 0 genome.wustl.edu 37 4 77003337 77003337 + Nonsense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 77003337 77003337 A T SNP ART3 ENST00000355810 human ensembl 74_37 +1 known nonsense c.430 p.R144* 0.926 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART3 HGNC ENSG00000156219 53 0 0 49 18 26.8657 AFAP1 0 genome.wustl.edu 37 4 7774589 7774589 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 7774589 7774589 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known silent c.2211 p.L737 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 54 0 0 29 4 12.1212 FRAS1 0 genome.wustl.edu 37 4 79308837 79308837 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 79308837 79308837 A C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.3957 p.Q1319H 0.005 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 31 0 0 24 4 14.2857 ANTXR2 0 genome.wustl.edu 37 4 80905052 80905052 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 80905052 80905052 C T SNP ANTXR2 ENST00000307333 human ensembl 74_37 -1 known missense c.1159 p.G387R 1.000 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 50 0 0 30 10 25 PRKG2 0 genome.wustl.edu 37 4 82088337 82088337 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 82088337 82088337 T G SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.890 p.K297T 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,prints_cGMP_dep_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 28 0 0 26 4 13.3333 SCD5 0 genome.wustl.edu 37 4 83552614 83552614 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 83552614 83552614 A C SNP SCD5 ENST00000319540 human ensembl 74_37 -1 known missense c.859 p.F287V 1.000 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 61 0 0 46 19 29.2308 THAP9 0 genome.wustl.edu 37 4 83839152 83839152 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 83839152 83839152 T G SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known missense c.1787 p.V596G 0.002 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 52 0 0 47 8 14.5455 HPSE 0 genome.wustl.edu 37 4 84222200 84222200 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 84222200 84222200 T C SNP HPSE ENST00000311412 human ensembl 74_37 -1 known missense c.1385 p.K462R 0.870 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 96 0 0 46 22 32.3529 HELQ 0 genome.wustl.edu 37 4 84350739 84350739 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 84350739 84350739 T G SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.2456 p.K819T 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 68 0 0 63 7 10 CPZ 0 genome.wustl.edu 37 4 8621297 8621297 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 8621297 8621297 T C SNP CPZ ENST00000360986 human ensembl 74_37 +1 known missense c.1912 p.F638L 1.000 NULL pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 42 0 0 31 3 8.82353 MAPK10 0 genome.wustl.edu 37 4 87022315 87022315 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 87022315 87022315 T G SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known missense c.620 p.D207A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 62 0 0 47 9 16.0714 ZNF595 0 genome.wustl.edu 37 4 87142 87142 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 87142 87142 A C SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.478 - - - no_errors ZNF595 HGNC ENSG00000197701 44 0 0 38 20 34.4828 ZNF595 0 genome.wustl.edu 37 4 87313 87313 + RNA SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 87313 87313 G A SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors ZNF595 HGNC ENSG00000197701 30 0 0 20 5 20 PTPN13 0 genome.wustl.edu 37 4 87622548 87622548 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 87622548 87622548 T G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.789 p.S263 0.993 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 33 0 0 21 7 25 HSD17B13 0 genome.wustl.edu 37 4 88234976 88234976 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 88234976 88234976 T G SNP HSD17B13 ENST00000328546 human ensembl 74_37 -1 known silent c.694 p.R232 0.999 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B13 HGNC ENSG00000170509 71 0 0 63 9 12.5 DMP1 0 genome.wustl.edu 37 4 88583146 88583146 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 88583146 88583146 A G SNP DMP1 ENST00000339673 human ensembl 74_37 +1 known silent c.216 p.S72 0.035 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 76 0 0 66 6 8.33333 DMP1 0 genome.wustl.edu 37 4 88584170 88584170 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 88584170 88584170 T G SNP DMP1 ENST00000339673 human ensembl 74_37 +1 known missense c.1240 p.F414V 0.000 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 98 0 0 90 26 22.4138 DMP1 0 genome.wustl.edu 37 4 88584322 88584322 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 4 88584322 88584322 A C SNP DMP1 ENST00000339673 human ensembl 74_37 +1 known missense c.1392 p.E464D 0.955 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 125 0 0 89 26 22.6087 TRIM36 0 genome.wustl.edu 37 5 114480405 114480405 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 114480405 114480405 T G SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.661 p.N221H 0.998 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 58 0 0 82 10 10.8696 ATG12 0 genome.wustl.edu 37 5 115173356 115173356 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 115173356 115173356 T G SNP ATG12 ENST00000274459 human ensembl 74_37 -1 known missense c.410 p.K137T 1.000 pfam_Atg12,pfam_Atg8_fam pfam_Atg12,pfam_Atg8_fam - no_errors ATG12 HGNC ENSG00000145782 98 0 0 83 11 11.7021 HSD17B4 0 genome.wustl.edu 37 5 118829639 118829639 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 118829639 118829639 A T SNP HSD17B4 ENST00000256216 human ensembl 74_37 +1 known missense c.866 p.Q289L 1.000 NULL pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 66 0 0 59 6 9.23077 HSD17B4 0 genome.wustl.edu 37 5 118829640 118829640 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 118829640 118829640 A G SNP HSD17B4 ENST00000256216 human ensembl 74_37 +1 known silent c.867 p.Q289 1.000 NULL pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 66 0 0 60 6 9.09091 LOX 0 genome.wustl.edu 37 5 121413231 121413231 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 121413231 121413231 T G SNP LOX ENST00000231004 human ensembl 74_37 -1 known missense c.450 p.E150D 0.000 NULL pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOX HGNC ENSG00000113083 62 0 0 55 4 6.77966 SNCAIP 0 genome.wustl.edu 37 5 121786636 121786636 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 121786636 121786636 A C SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known silent c.2235 p.R745 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 87 0 0 56 18 24.3243 ZNF608 0 genome.wustl.edu 37 5 124080350 124080350 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 124080350 124080350 A C SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known silent c.333 p.T111 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 73 0 0 39 14 26.4151 SLC12A2 0 genome.wustl.edu 37 5 127483312 127483312 + Splice_Site SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 127483312 127483312 A G SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known splice_site c.1774-2 e11-2 1.000 - - - no_errors SLC12A2 HGNC ENSG00000064651 63 0 0 58 8 12.1212 ADAMTS19 0 genome.wustl.edu 37 5 128862008 128862008 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 128862008 128862008 A C SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known silent c.927 p.A309 0.984 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,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 ADAMTS19 HGNC ENSG00000145808 53 0 0 45 9 16.6667 HSPA4 0 genome.wustl.edu 37 5 132431895 132431895 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 132431895 132431895 T G SNP HSPA4 ENST00000304858 human ensembl 74_37 +1 known missense c.1756 p.L586V 0.006 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 54 0 0 56 12 17.6471 CDKL3 0 genome.wustl.edu 37 5 133657596 133657596 + Splice_Site SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 133657596 133657596 T C SNP CDKL3 ENST00000265334 human ensembl 74_37 -1 known splice_site c.540-2 e4-2 1.000 - - - no_errors CDKL3 HGNC ENSG00000006837 36 0 0 26 13 33.3333 TXNDC15 0 genome.wustl.edu 37 5 134223395 134223395 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 134223395 134223395 A C SNP TXNDC15 ENST00000358387 human ensembl 74_37 +1 known missense c.114 p.E38D 0.458 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC15 HGNC ENSG00000113621 77 0 0 64 4 5.88235 LOC100996485 0 genome.wustl.edu 37 5 134678935 134678935 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 134678935 134678935 A C SNP LOC100996485 ENST00000432382 human ensembl 74_37 +1 putative missense c.217 p.S73R 0.000 NULL NULL - no_errors CTC-349C3.1 Clone_based_vega_gene ENSG00000224186 101 0 0 71 15 17.4419 TRPC7 0 genome.wustl.edu 37 5 135567231 135567231 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 135567231 135567231 T G SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.1851 p.E617D 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,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 16 0 0 16 5 23.8095 FAM13B 0 genome.wustl.edu 37 5 137275969 137275969 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 137275969 137275969 T G SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.2693 p.K898T 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 67 0 0 60 14 18.9189 DNAH5 0 genome.wustl.edu 37 5 13876847 13876847 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 13876847 13876847 T C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.3342 p.K1114 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 74 0 0 69 10 12.6582 DNAH5 0 genome.wustl.edu 37 5 13894825 13894825 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 13894825 13894825 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.2365 p.L789V 0.304 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,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 129 0 0 96 33 25.5814 PCDHA2 0 genome.wustl.edu 37 5 140175798 140175798 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140175798 140175798 A G SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.1249 p.S417G 0.062 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 PCDHA2 HGNC ENSG00000204969 239 0 0 133 45 25.2809 PCDHA4 0 genome.wustl.edu 37 5 140188288 140188288 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140188288 140188288 A T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1516 p.S506C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 107 0 0 103 16 13.4454 PCDHA7 0 genome.wustl.edu 37 5 140214018 140214018 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140214018 140214018 T G SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.50 p.F17C 0.021 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 121 0 0 77 32 29.3578 PCDHA12 0 genome.wustl.edu 37 5 140256514 140256514 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140256514 140256514 A C SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1457 p.K486T 0.975 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 163 0 0 121 20 14.1844 PCDHB1 0 genome.wustl.edu 37 5 140431782 140431782 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140431782 140431782 T A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.727 p.S243T 0.085 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 42 0 0 24 10 29.4118 PCDHB1 0 genome.wustl.edu 37 5 140431955 140431955 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140431955 140431955 A C SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.900 p.E300D 0.137 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 PCDHB1 HGNC ENSG00000171815 97 0 0 79 12 13.1868 PCDHB12 0 genome.wustl.edu 37 5 140590099 140590099 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140590099 140590099 T A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1620 p.A540 0.459 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 PCDHB12 HGNC ENSG00000120328 135 0 0 88 33 27.2727 TAF7 0 genome.wustl.edu 37 5 140699524 140699524 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140699524 140699524 T G SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known silent c.88 p.R30 0.999 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 104 0 0 61 19 23.75 PCDHGA3 0 genome.wustl.edu 37 5 140725704 140725704 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140725704 140725704 T A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.2104 p.C702S 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 169 0 0 139 16 10.3226 PCDHGB4 0 genome.wustl.edu 37 5 140768320 140768320 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140768320 140768320 T G SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.869 p.F290C 0.968 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 90 0 0 65 13 16.6667 PCDHGA8 0 genome.wustl.edu 37 5 140773688 140773688 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140773688 140773688 T C SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.1308 p.T436 0.112 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 34 0 0 17 6 26.087 PCDHGB6 0 genome.wustl.edu 37 5 140788105 140788105 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140788105 140788105 T C SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known silent c.336 p.N112 0.991 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 117 0 0 125 17 11.9718 PCDHGB6 0 genome.wustl.edu 37 5 140788397 140788397 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140788397 140788397 T G SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.628 p.L210V 0.083 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 PCDHGB6 HGNC ENSG00000253305 28 0 0 28 5 15.1515 PCDHGB6 0 genome.wustl.edu 37 5 140789877 140789877 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140789877 140789877 T A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.2108 p.F703Y 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 163 0 0 142 15 9.55414 PCDHGA10 0 genome.wustl.edu 37 5 140794709 140794709 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140794709 140794709 C T SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.1967 p.P656L 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 PCDHGA10 HGNC ENSG00000253846 139 0 0 99 22 18.1818 PCDHGA12 0 genome.wustl.edu 37 5 140811196 140811196 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 140811196 140811196 A G SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.870 p.Q290 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 164 0 0 93 41 30.597 SPRY4 0 genome.wustl.edu 37 5 141694376 141694376 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 141694376 141694376 T C SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known missense c.367 p.S123G 1.000 NULL pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 108 0 0 62 9 12.6761 RBM27 0 genome.wustl.edu 37 5 145616914 145616914 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 145616914 145616914 A C SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.1198 p.S400R 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 111 0 0 95 8 7.76699 RBM27 0 genome.wustl.edu 37 5 145648801 145648801 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 145648801 145648801 A C SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.2483 p.K828T 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 70 0 0 68 10 12.8205 FAM105A 0 genome.wustl.edu 37 5 14602336 14602336 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 14602336 14602336 A C SNP FAM105A ENST00000274217 human ensembl 74_37 +1 known silent c.393 p.R131 0.004 NULL prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 49 0 0 32 9 21.9512 DPYSL3 0 genome.wustl.edu 37 5 146798174 146798174 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 146798174 146798174 A C SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.149 p.I50S 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 157 0 0 117 14 10.687 ARHGEF37 0 genome.wustl.edu 37 5 149003664 149003664 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 149003664 149003664 A G SNP ARHGEF37 ENST00000333677 human ensembl 74_37 +1 known silent c.1425 p.Q475 0.121 NULL pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 81 0 0 74 6 7.5 GRIA1 0 genome.wustl.edu 37 5 153149895 153149895 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 153149895 153149895 A G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known silent c.2220 p.K740 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_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 GRIA1 HGNC ENSG00000155511 73 0 0 64 16 20 RARS 0 genome.wustl.edu 37 5 167921609 167921609 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 167921609 167921609 T G SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.533 p.L178R 0.998 pfam_Arg-tRNA-synth_Ia_core,superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS HGNC ENSG00000113643 121 0 0 73 23 23.9583 PANK3 0 genome.wustl.edu 37 5 167988433 167988433 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 167988433 167988433 T A SNP PANK3 ENST00000239231 human ensembl 74_37 -1 known missense c.901 p.I301F 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 37 0 0 38 3 7.31707 SLIT3 0 genome.wustl.edu 37 5 168180908 168180908 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 168180908 168180908 T C SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.1790 p.H597R 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,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_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 54 0 0 38 9 19.1489 RANBP17 0 genome.wustl.edu 37 5 170669756 170669756 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 170669756 170669756 T G SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.2708 p.I903S 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 152 0 0 116 42 26.5823 CREBRF 0 genome.wustl.edu 37 5 172517706 172517706 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 172517706 172517706 A C SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known missense c.524 p.K175T 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 62 0 0 50 12 19.3548 SIMC1 0 genome.wustl.edu 37 5 175722138 175722138 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 175722138 175722138 T G SNP SIMC1 ENST00000443967 human ensembl 74_37 +1 known missense c.1480 p.F494V 1.000 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 86 0 0 60 10 14.2857 GPRIN1 0 genome.wustl.edu 37 5 176024901 176024901 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 176024901 176024901 T C SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known silent c.1935 p.Q645 0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 44 0 0 31 4 11.4286 GUSBP1 0 genome.wustl.edu 37 5 21497235 21497235 + RNA SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 21497235 21497235 C T SNP GUSBP1 ENST00000508260 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GUSBP1 HGNC ENSG00000183666 30 0 0 25 3 10.7143 CDH9 0 genome.wustl.edu 37 5 26890056 26890056 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 26890056 26890056 T G SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1401 p.K467N 0.973 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 CDH9 HGNC ENSG00000113100 119 0 0 77 43 35.8333 ADAMTS12 0 genome.wustl.edu 37 5 33684103 33684103 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 33684103 33684103 T G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.692 p.N231T 0.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 86 0 0 50 19 27.5362 SPEF2 0 genome.wustl.edu 37 5 35649522 35649522 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 35649522 35649522 A G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.786 p.K262 1.000 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 135 0 0 81 31 27.6786 NIPBL 0 genome.wustl.edu 37 5 37010309 37010309 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 37010309 37010309 A C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.4542 p.E1514D 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 61 0 0 49 15 23.4375 C5orf42 0 genome.wustl.edu 37 5 37179471 37179471 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 37179471 37179471 A C SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.5812 p.L1938V 0.181 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 85 0 0 55 9 14.0625 LIFR 0 genome.wustl.edu 37 5 38484884 38484884 + Nonsense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 38484884 38484884 G A SNP LIFR ENST00000263409 human ensembl 74_37 -1 known nonsense c.2584 p.R862* 0.960 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 42 0 0 43 5 10.4167 NIM1 0 genome.wustl.edu 37 5 43245956 43245956 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 43245956 43245956 A C SNP NIM1 ENST00000326035 human ensembl 74_37 +1 known missense c.79 p.S27R 0.932 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 NIM1 Uniprot_gn ENSG00000177453 140 0 0 124 16 11.4286 AHRR 0 genome.wustl.edu 37 5 432582 432582 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 432582 432582 A C SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.979 p.K327Q 0.876 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 98 0 0 61 6 8.95522 ADAMTS16 0 genome.wustl.edu 37 5 5319213 5319213 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 5319213 5319213 A G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.3637 p.K1213E 0.965 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 31 0 0 15 4 21.0526 IPO11 0 genome.wustl.edu 37 5 61762980 61762980 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 61762980 61762980 T G SNP IPO11 ENST00000409296 human ensembl 74_37 +1 known missense c.659 p.F220C 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 57 0 0 64 5 7.24638 SREK1 0 genome.wustl.edu 37 5 65449504 65449504 + RNA SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 65449504 65449504 A G SNP SREK1 ENST00000523851 human ensembl 74_37 +1 putative rna NULL NULL 0.968 - - - no_errors SREK1 HGNC ENSG00000153914 97 0 0 80 11 12.0879 SLC30A5 0 genome.wustl.edu 37 5 68423839 68423839 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 68423839 68423839 A C SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known missense c.2007 p.K669N 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 138 0 0 146 14 8.75 RAD17 0 genome.wustl.edu 37 5 68687699 68687699 + Nonsense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 68687699 68687699 A T SNP RAD17 ENST00000380774 human ensembl 74_37 +1 known nonsense c.1081 p.K361* 1.000 tigrfam_Checkpoint_prot_Rad24_fun/met superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 107 0 0 69 35 33.6538 BDP1 0 genome.wustl.edu 37 5 70818663 70818663 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 70818663 70818663 A C SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.5274 p.K1758N 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 81 0 0 62 19 23.4568 ZNF366 0 genome.wustl.edu 37 5 71756638 71756638 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 71756638 71756638 A G SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.686 p.V229A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 190 0 0 94 30 24.1935 POLK 0 genome.wustl.edu 37 5 74872668 74872668 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 74872668 74872668 T G SNP POLK ENST00000241436 human ensembl 74_37 +1 known missense c.604 p.L202V 1.000 pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 41 0 0 30 12 28.5714 F2R 0 genome.wustl.edu 37 5 76029324 76029324 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 76029324 76029324 C T SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.1274 p.T425I 0.996 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 54 0 0 50 6 10.7143 WDR41 0 genome.wustl.edu 37 5 76732142 76732142 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 76732142 76732142 T C SNP WDR41 ENST00000296679 human ensembl 74_37 -1 known missense c.1171 p.T391A 0.001 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR41 HGNC ENSG00000164253 65 0 0 49 17 25.7576 BHMT 0 genome.wustl.edu 37 5 78426886 78426886 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 78426886 78426886 A G SNP BHMT ENST00000274353 human ensembl 74_37 +1 known missense c.1168 p.T390A 0.228 NULL pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 197 0 0 124 34 21.519 CMYA5 0 genome.wustl.edu 37 5 79025083 79025083 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 79025083 79025083 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.495 p.K165N 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 43 0 0 42 7 14.2857 THBS4 0 genome.wustl.edu 37 5 79372825 79372825 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 79372825 79372825 A G SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.2040 p.P680 0.446 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 232 0 0 156 41 20.8122 SPZ1 0 genome.wustl.edu 37 5 79616290 79616290 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 79616290 79616290 T G SNP SPZ1 ENST00000296739 human ensembl 74_37 +1 known missense c.256 p.F86V 0.000 NULL NULL - no_errors SPZ1 HGNC ENSG00000164299 100 0 0 81 8 8.98876 TAS2R1 0 genome.wustl.edu 37 5 9629253 9629253 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 9629253 9629253 A C SNP TAS2R1 ENST00000382492 human ensembl 74_37 -1 known missense c.892 p.C298G 0.006 NULL pfam_TAS2_rcpt - no_errors TAS2R1 HGNC ENSG00000169777 112 0 0 70 18 20.4545 PRDM13 0 genome.wustl.edu 37 6 100062409 100062409 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 100062409 100062409 A C SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.1898 p.E633A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 32 0 0 26 9 25.7143 TFAP2A 0 genome.wustl.edu 37 6 10419705 10419705 + RNA SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 10419705 10419705 A G SNP TFAP2A ENST00000473652 human ensembl 74_37 -1 known rna NULL NULL 0.935 - - - no_errors TFAP2A HGNC ENSG00000137203 84 0 0 64 22 25.5814 GCNT2 0 genome.wustl.edu 37 6 10586363 10586363 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 10586363 10586363 T C SNP GCNT2 ENST00000265012 human ensembl 74_37 +1 known silent c.141 p.T47 0.000 NULL pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 201 0 0 141 51 26.5625 MICAL1 0 genome.wustl.edu 37 6 109770629 109770629 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 109770629 109770629 T C SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.1547 p.K516R 0.726 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 134 0 0 94 10 9.61538 CDK19 0 genome.wustl.edu 37 6 110988698 110988698 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 110988698 110988698 A C SNP CDK19 ENST00000368911 human ensembl 74_37 -1 known missense c.395 p.L132R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK19 HGNC ENSG00000155111 85 0 0 63 5 7.35294 KIAA1919 0 genome.wustl.edu 37 6 111588294 111588294 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 111588294 111588294 A G SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.1529 p.E510G 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 80 0 0 75 7 8.53659 RFPL4B 0 genome.wustl.edu 37 6 112671189 112671189 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 112671189 112671189 T C SNP RFPL4B ENST00000441065 human ensembl 74_37 +1 known silent c.279 p.F93 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 57 0 0 35 14 28.5714 HS3ST5 0 genome.wustl.edu 37 6 114379073 114379073 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 114379073 114379073 T G SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.389 p.E130A 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 181 0 0 96 36 27.2727 GPRC6A 0 genome.wustl.edu 37 6 117128056 117128056 + Splice_Site SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 117128056 117128056 A C SNP GPRC6A ENST00000530250 human ensembl 74_37 -1 known splice_site c.810+2 e3+2 1.000 - - - no_errors GPRC6A HGNC ENSG00000173612 117 0 0 92 16 14.8148 KIAA0408 0 genome.wustl.edu 37 6 127768046 127768046 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 127768046 127768046 T C SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.1418 p.K473R 0.912 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 117 0 0 89 11 11 ENPP3 0 genome.wustl.edu 37 6 132014759 132014759 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 132014759 132014759 T C SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known silent c.1407 p.A469 0.995 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 147 0 0 121 30 19.8675 ALDH8A1 0 genome.wustl.edu 37 6 135239997 135239997 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 135239997 135239997 A C SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.1020 p.S340R 0.998 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 116 0 0 108 12 10 GRM1 0 genome.wustl.edu 37 6 146351241 146351241 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 146351241 146351241 T G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.588 p.T196 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 126 0 0 95 28 22.7642 GRM1 0 genome.wustl.edu 37 6 146755850 146755850 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 146755850 146755850 A C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3503 p.E1168A 1.000 pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 78 0 0 60 18 23.0769 TAB2 0 genome.wustl.edu 37 6 149699164 149699164 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 149699164 149699164 A T SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.113 p.N38I 1.000 pfam_CUE,smart_CUE,pfscan_CUE pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 44 0 0 27 15 35.7143 RAET1E 0 genome.wustl.edu 37 6 150209679 150209679 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 150209679 150209679 T G SNP RAET1E ENST00000357183 human ensembl 74_37 -1 known missense c.747 p.Q249H 0.001 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1E HGNC ENSG00000164520 114 0 0 100 13 11.5044 PLEKHG1 0 genome.wustl.edu 37 6 151152705 151152705 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 151152705 151152705 T G SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.2458 p.L820V 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 163 0 0 93 27 22.5 SERAC1 0 genome.wustl.edu 37 6 158537312 158537312 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 158537312 158537312 T C SNP SERAC1 ENST00000367104 human ensembl 74_37 -1 known missense c.1406 p.K469R 1.000 pfam_PGAP1-like pfam_PGAP1-like,superfamily_ARM-type_fold - no_errors SERAC1 HGNC ENSG00000122335 63 0 0 45 23 33.8235 FNDC1 0 genome.wustl.edu 37 6 159653494 159653494 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 159653494 159653494 T G SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.1950 p.D650E 0.031 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 79 0 0 58 11 15.942 LPA 0 genome.wustl.edu 37 6 160953592 160953592 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 160953592 160953592 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.5932 p.H1978Y 0.130 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 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 77 0 0 49 8 14.0351 LPA 0 genome.wustl.edu 37 6 161022106 161022106 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 161022106 161022106 T C SNP LPA ENST00000316300 human ensembl 74_37 -1 known silent c.2970 p.R990 0.499 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle 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 109 0 0 60 19 24.0506 ATXN1 0 genome.wustl.edu 37 6 16327457 16327457 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 16327457 16327457 A T SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.1085 p.V362E 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 178 0 0 118 24 16.9014 UNC93A 0 genome.wustl.edu 37 6 167717594 167717594 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 167717594 167717594 A C SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.813 p.Q271H 0.965 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 159 0 0 118 41 25.7862 KIF13A 0 genome.wustl.edu 37 6 17764753 17764753 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 17764753 17764753 A G SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.5006 p.L1669P 0.995 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 80 0 0 58 21 26.5823 KDM1B 0 genome.wustl.edu 37 6 18213945 18213945 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 18213945 18213945 T C SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known missense c.2045 p.F682S 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 224 1 0.444444 146 62 29.8077 KIAA0319 0 genome.wustl.edu 37 6 24576688 24576688 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 24576688 24576688 A C SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.1642 p.L548V 0.824 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom 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 452 0 0 378 51 11.8881 KIAA0319 0 genome.wustl.edu 37 6 24581195 24581195 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 24581195 24581195 T G SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.1238 p.N413T 0.997 pfam_PKD/REJ-like,smart_Fibronectin_type3,smart_PKD/Chitinase_dom 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 137 0 0 81 26 24.2991 SLC17A4 0 genome.wustl.edu 37 6 25773785 25773785 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 25773785 25773785 A C SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.870 p.K290N 0.793 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 67 0 0 45 23 33.8235 HIST1H1A 0 genome.wustl.edu 37 6 26017925 26017925 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 26017925 26017925 A G SNP HIST1H1A ENST00000244573 human ensembl 74_37 -1 known silent c.36 p.S12 0.001 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 77 0 0 40 11 21.5686 HIST1H4B 0 genome.wustl.edu 37 6 26027235 26027235 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 26027235 26027235 G A SNP HIST1H4B ENST00000377364 human ensembl 74_37 -1 known silent c.246 p.V82 0.993 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4B HGNC ENSG00000124529 101 0 0 52 16 23.5294 BTN3A1 0 genome.wustl.edu 37 6 26405873 26405873 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 26405873 26405873 T C SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known missense c.82 p.S28P 0.896 pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 98 0 0 62 9 12.6761 ZNF311 0 genome.wustl.edu 37 6 28967434 28967434 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 28967434 28967434 T G SNP ZNF311 ENST00000483450 human ensembl 74_37 -1 known rna NULL NULL 0.155 - - - no_errors ZNF311 HGNC ENSG00000197935 27 0 0 17 7 29.1667 OR14J1 0 genome.wustl.edu 37 6 29275414 29275414 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 29275414 29275414 A G SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known silent c.948 p.K316 0.010 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14J1 HGNC ENSG00000204695 77 0 0 67 16 19.2771 TRIM39 0 genome.wustl.edu 37 6 30297161 30297161 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 30297161 30297161 T G SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known missense c.67 p.L23V 0.618 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 237 0 0 184 21 10.2439 TRIM39 0 genome.wustl.edu 37 6 30297387 30297387 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 30297387 30297387 A G SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known missense c.293 p.K98R 0.963 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 52 0 0 61 11 15.2778 GTF2H4 0 genome.wustl.edu 37 6 30879519 30879519 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 30879519 30879519 A C SNP GTF2H4 ENST00000259895 human ensembl 74_37 +1 known missense c.800 p.E267A 1.000 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 - no_errors GTF2H4 HGNC ENSG00000213780 82 0 0 64 9 12.3288 HLA-B 0 genome.wustl.edu 37 6 31323279 31323279 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 31323279 31323279 A C SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.710 p.I237S 0.815 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 162 0 0 97 9 8.49057 LTA 0 genome.wustl.edu 37 6 31541078 31541078 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 31541078 31541078 T C SNP LTA ENST00000418386 human ensembl 74_37 +1 known missense c.226 p.S76P 0.009 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_beta,prints_TNF pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_beta,prints_TNF - no_errors LTA HGNC ENSG00000226979 82 0 0 62 19 23.4568 MDGA1 0 genome.wustl.edu 37 6 37606368 37606368 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 37606368 37606368 T A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.2624 p.K875M 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_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 61 0 0 21 15 41.6667 DNAH8 0 genome.wustl.edu 37 6 38825338 38825338 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 38825338 38825338 A C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.5127 p.E1709D 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 73 0 0 62 7 10.1449 MOCS1 0 genome.wustl.edu 37 6 39874134 39874134 + Nonstop_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 39874134 39874134 T G SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known nonstop c.1910 p.*637S 0.957 NULL pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 234 0 0 180 12 6.25 APOBEC2 0 genome.wustl.edu 37 6 41029181 41029181 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 41029181 41029181 A T SNP APOBEC2 ENST00000244669 human ensembl 74_37 +1 known missense c.246 p.Q82H 0.974 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC2 HGNC ENSG00000124701 129 0 0 81 25 23.5849 OARD1 0 genome.wustl.edu 37 6 41037846 41037846 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 41037846 41037846 A G SNP OARD1 ENST00000424266 human ensembl 74_37 -1 known missense c.212 p.L71P 1.000 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors OARD1 HGNC ENSG00000124596 113 0 0 106 21 16.5354 PEX6 0 genome.wustl.edu 37 6 42934394 42934394 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 42934394 42934394 A C SNP PEX6 ENST00000304611 human ensembl 74_37 -1 known missense c.1963 p.L655V 0.008 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 246 0 0 172 21 10.8808 SLC22A7 0 genome.wustl.edu 37 6 43267175 43267175 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 43267175 43267175 T G SNP SLC22A7 ENST00000372585 human ensembl 74_37 +1 known silent c.447 p.T149 0.716 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 117 0 0 58 29 33.3333 AARS2 0 genome.wustl.edu 37 6 44269806 44269806 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 44269806 44269806 T G SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.2589 p.Q863H 0.796 tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 39 0 0 28 6 17.6471 CYP39A1 0 genome.wustl.edu 37 6 46620249 46620249 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 46620249 46620249 T C SNP CYP39A1 ENST00000275016 human ensembl 74_37 -1 known missense c.71 p.K24R 0.001 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC ENSG00000146233 358 0 0 305 37 10.8187 TDRD6 0 genome.wustl.edu 37 6 46657408 46657408 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 46657408 46657408 A G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.1543 p.K515E 0.975 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 139 1 0.714286 123 15 10.8696 GPR111 0 genome.wustl.edu 37 6 47649717 47649717 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 47649717 47649717 A G SNP GPR111 ENST00000296862 human ensembl 74_37 +1 known silent c.1422 p.Q474 0.005 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 116 0 0 90 25 21.7391 OPN5 0 genome.wustl.edu 37 6 47763080 47763080 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 47763080 47763080 C T SNP OPN5 ENST00000371211 human ensembl 74_37 +1 known silent c.537 p.F179 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC ENSG00000124818 79 0 0 43 23 34.8485 PKHD1 0 genome.wustl.edu 37 6 51524683 51524683 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 51524683 51524683 A C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.10241 p.I3414S 0.980 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 79 0 0 71 8 10.1266 DST 0 genome.wustl.edu 37 6 56472644 56472644 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 56472644 56472644 A C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.6683 p.L2228R 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 120 0 0 111 32 22.3776 DST 0 genome.wustl.edu 37 6 56474002 56474002 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 56474002 56474002 A C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.5325 p.I1775M 0.998 pfam_Plectin_repeat,superfamily_ABC1_TM_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 180 0 0 134 54 28.7234 PRIM2 0 genome.wustl.edu 37 6 57372352 57372352 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 57372352 57372352 T G SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known missense c.758 p.L253R 1.000 pfam_DNA_primase_lsu_euk/arc pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 44 0 0 44 4 8.33333 PHF3 0 genome.wustl.edu 37 6 64422746 64422746 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 64422746 64422746 T A SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.5262 p.F1754L 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 129 0 0 97 15 13.3929 HUS1B 0 genome.wustl.edu 37 6 656331 656331 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 656331 656331 T G SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known missense c.614 p.K205T 0.333 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 210 0 0 136 27 16.5644 OGFRL1 0 genome.wustl.edu 37 6 71998735 71998735 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 71998735 71998735 A C SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known missense c.96 p.E32D 0.996 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 8 0 0 10 4 28.5714 RIMS1 0 genome.wustl.edu 37 6 73108029 73108029 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 73108029 73108029 A C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4697 p.K1566T 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom 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 21 0 0 10 5 33.3333 KCNQ5 0 genome.wustl.edu 37 6 73904333 73904333 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 73904333 73904333 T G SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2025 p.D675E 0.998 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 108 0 0 87 26 23.0088 KCNQ5 0 genome.wustl.edu 37 6 73904995 73904995 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 73904995 73904995 T C SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2687 p.F896S 0.997 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 137 0 0 111 8 6.72269 RIOK1 0 genome.wustl.edu 37 6 7414622 7414622 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 7414622 7414622 A C SNP RIOK1 ENST00000379834 human ensembl 74_37 +1 known missense c.1595 p.K532T 1.000 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 114 0 0 82 9 9.89011 TPBG 0 genome.wustl.edu 37 6 83075691 83075691 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 83075691 83075691 A C SNP TPBG ENST00000369750 human ensembl 74_37 +1 known missense c.1013 p.N338T 0.009 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC ENSG00000146242 119 0 0 71 27 27.551 RARS2 0 genome.wustl.edu 37 6 88231202 88231202 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 88231202 88231202 A C SNP RARS2 ENST00000369536 human ensembl 74_37 -1 known missense c.1015 p.F339V 1.000 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 49 0 0 33 12 26.6667 MDN1 0 genome.wustl.edu 37 6 90368543 90368543 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 90368543 90368543 T A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.14807 p.Q4936L 0.013 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 211 0 0 127 30 19.1083 MDN1 0 genome.wustl.edu 37 6 90382309 90382309 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 90382309 90382309 T G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.13587 p.K4529N 0.010 superfamily_ARM-type_fold,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 73 0 0 70 7 9.09091 NYAP1 0 genome.wustl.edu 37 7 100084688 100084688 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 100084688 100084688 C T SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known missense c.313 p.L105F 0.092 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 39 0 0 25 8 24.2424 FBXO24 0 genome.wustl.edu 37 7 100190480 100190480 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 100190480 100190480 A C SNP FBXO24 ENST00000427939 human ensembl 74_37 +1 known missense c.747 p.E249D 0.019 NULL pfam_F-box_dom,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 55 0 0 27 5 15.625 MUC17 0 genome.wustl.edu 37 7 100680229 100680229 + Silent SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 100680229 100680229 A T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.5532 p.A1844 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 387 0 0 267 74 21.7009 MUC17 0 genome.wustl.edu 37 7 100680882 100680882 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 100680882 100680882 A C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.6185 p.N2062T 0.109 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 258 1 0.3861 215 20 8.51064 MOGAT3 0 genome.wustl.edu 37 7 100841487 100841487 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 100841487 100841487 A C SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known missense c.653 p.L218R 0.999 pfam_DAGAT pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 65 0 0 43 4 8.51064 LRWD1 0 genome.wustl.edu 37 7 102109080 102109080 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 102109080 102109080 C T SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known silent c.999 p.H333 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 9 0 0 4 3 42.8571 FBXL13 0 genome.wustl.edu 37 7 102608482 102608482 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 102608482 102608482 G A SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.578 p.S193L 0.010 pfscan_F-box_dom smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 65 0 0 51 4 7.27273 RELN 0 genome.wustl.edu 37 7 103185604 103185604 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 103185604 103185604 T C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.6490 p.K2164E 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 102 0 0 65 8 10.9589 COG5 0 genome.wustl.edu 37 7 107198467 107198467 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 107198467 107198467 T G SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.281 p.K94T 1.000 pfam_Cog5 pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 68 0 0 45 5 10 LAMB1 0 genome.wustl.edu 37 7 107564421 107564421 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 107564421 107564421 A C SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.5336 p.V1779G 0.996 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 103 0 0 90 8 8.16327 LAMB4 0 genome.wustl.edu 37 7 107720140 107720140 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 107720140 107720140 A G SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.1793 p.F598S 1.000 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 52 0 0 39 7 15.2174 DOCK4 0 genome.wustl.edu 37 7 111509658 111509658 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 111509658 111509658 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.2081 p.R694Q 0.835 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 52 0 0 28 3 9.67742 TFEC 0 genome.wustl.edu 37 7 115581990 115581990 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 115581990 115581990 T G SNP TFEC ENST00000265440 human ensembl 74_37 -1 known missense c.620 p.K207T 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 158 0 0 120 51 29.8246 CFTR 0 genome.wustl.edu 37 7 117235071 117235071 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 117235071 117235071 A C SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.2578 p.I860L 0.659 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 60 0 0 39 16 29.0909 CTTNBP2 0 genome.wustl.edu 37 7 117431987 117431987 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 117431987 117431987 T C SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known silent c.1263 p.Q421 0.000 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 192 0 0 153 23 13.0682 CPED1 0 genome.wustl.edu 37 7 120704342 120704342 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 120704342 120704342 A T SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.591 p.L197F 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 45 0 0 50 5 9.09091 SLC13A1 0 genome.wustl.edu 37 7 122787232 122787232 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 122787232 122787232 A C SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.793 p.F265V 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 31 0 0 30 9 23.0769 ASB15 0 genome.wustl.edu 37 7 123270123 123270123 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 123270123 123270123 A C SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.1544 p.K515T 0.983 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 104 0 0 90 9 9.09091 CCDC136 0 genome.wustl.edu 37 7 128454771 128454771 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 128454771 128454771 T C SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known missense c.2843 p.V948A 0.556 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 28 0 0 21 6 22.2222 TNPO3 0 genome.wustl.edu 37 7 128619046 128619046 + Silent SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 128619046 128619046 T A SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known silent c.2154 p.L718 0.892 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 357 0 0 237 43 15.3571 TNPO3 0 genome.wustl.edu 37 7 128645196 128645196 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 128645196 128645196 T C SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known silent c.570 p.K190 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 134 0 0 83 8 8.79121 CEP41 0 genome.wustl.edu 37 7 130039931 130039931 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 130039931 130039931 T G SNP CEP41 ENST00000223208 human ensembl 74_37 -1 known missense c.922 p.K308Q 0.996 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors CEP41 HGNC ENSG00000106477 104 0 0 76 21 21.6495 CHCHD3 0 genome.wustl.edu 37 7 132470307 132470307 + RNA SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 132470307 132470307 T A SNP CHCHD3 ENST00000476546 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CHCHD3 HGNC ENSG00000106554 19 0 0 6 4 40 AKR1B15 0 genome.wustl.edu 37 7 134253009 134253009 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 134253009 134253009 G A SNP AKR1B15 ENST00000423958 human ensembl 74_37 +1 known missense c.166 p.G56R 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B15 HGNC ENSG00000227471 142 0 0 97 31 24.2188 C7orf49 0 genome.wustl.edu 37 7 134853724 134853724 + RNA SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 134853724 134853724 T C SNP C7orf49 ENST00000459937 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors C7orf49 HGNC ENSG00000122783 21 0 0 23 8 25.8065 DGKI 0 genome.wustl.edu 37 7 137270054 137270054 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 137270054 137270054 T C SNP DGKI ENST00000288490 human ensembl 74_37 -1 known silent c.1464 p.Q488 0.944 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,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 93 0 0 67 24 26.3736 ATP6V0A4 0 genome.wustl.edu 37 7 138455994 138455994 + RNA SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 138455994 138455994 T C SNP ATP6V0A4 ENST00000483139 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP6V0A4 HGNC ENSG00000105929 169 0 0 123 27 18 TBXAS1 0 genome.wustl.edu 37 7 139572126 139572126 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 139572126 139572126 A C SNP TBXAS1 ENST00000416849 human ensembl 74_37 +1 known missense c.185 p.Q62P 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 106 0 0 65 21 24.4186 MKRN1 0 genome.wustl.edu 37 7 140158984 140158984 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 140158984 140158984 T C SNP MKRN1 ENST00000255977 human ensembl 74_37 -1 known silent c.594 p.E198 0.669 NULL pfam_Znf_CCCH,pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN1 HGNC ENSG00000133606 168 0 0 126 18 12.5 SSPO 0 genome.wustl.edu 37 7 149475868 149475868 + Splice_Site SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 149475868 149475868 A C SNP SSPO ENST00000262089 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 29 0 0 25 6 19.3548 GIMAP6 0 genome.wustl.edu 37 7 150325584 150325584 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 150325584 150325584 T G SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known missense c.102 p.E34D 0.000 superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 302 0 0 205 31 13.1356 ASB10 0 genome.wustl.edu 37 7 150883545 150883545 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 150883545 150883545 T C SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.653 p.D218G 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_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 9 0 0 7 4 36.3636 FAM126A 0 genome.wustl.edu 37 7 22999995 22999995 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 22999995 22999995 T G SNP FAM126A ENST00000432176 human ensembl 74_37 -1 known missense c.871 p.M291L 1.000 pfam_Hyccin pfam_Hyccin - no_errors FAM126A HGNC ENSG00000122591 155 0 0 119 7 5.55556 HOXA9 0 genome.wustl.edu 37 7 27204678 27204678 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 27204678 27204678 T G SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known missense c.399 p.K133N 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 42 0 0 21 5 19.2308 TAX1BP1 0 genome.wustl.edu 37 7 27832746 27832746 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 27832746 27832746 T G SNP TAX1BP1 ENST00000396319 human ensembl 74_37 +1 known missense c.1325 p.L442R 1.000 pfam_CoCoA pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 46 0 0 41 7 14.5833 PPP1R17 0 genome.wustl.edu 37 7 31735091 31735091 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 31735091 31735091 T G SNP PPP1R17 ENST00000342032 human ensembl 74_37 +1 known missense c.91 p.S31A 1.000 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 81 0 0 69 19 21.5909 FAM183B 0 genome.wustl.edu 37 7 38725595 38725595 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 38725595 38725595 T C SNP FAM183B ENST00000409072 human ensembl 74_37 -1 novel missense c.11 p.H4R 0.009 NULL NULL - no_errors FAM183B HGNC ENSG00000164556 56 0 0 51 7 12.069 GLI3 0 genome.wustl.edu 37 7 42005617 42005617 + Silent SNP C C A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 42005617 42005617 C A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3054 p.L1018 0.568 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 27 0 0 14 7 33.3333 GLI3 0 genome.wustl.edu 37 7 42005620 42005620 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 42005620 42005620 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3051 p.A1017 0.357 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 27 0 0 14 7 33.3333 MRPL32 0 genome.wustl.edu 37 7 42977040 42977040 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 42977040 42977040 A T SNP MRPL32 ENST00000223324 human ensembl 74_37 +1 known missense c.432 p.Q144H 0.001 NULL pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd - no_errors MRPL32 HGNC ENSG00000106591 69 0 0 42 12 22.2222 UBE2D4 0 genome.wustl.edu 37 7 43978042 43978042 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 43978042 43978042 T C SNP UBE2D4 ENST00000222402 human ensembl 74_37 +1 known silent c.37 p.L13 0.997 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 UBE2D4 HGNC ENSG00000078967 135 0 0 90 10 10 CAMK2B 0 genome.wustl.edu 37 7 44260282 44260282 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 44260282 44260282 C T SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known silent c.1701 p.S567 0.131 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2B HGNC ENSG00000058404 33 0 0 26 4 13.3333 H2AFV 0 genome.wustl.edu 37 7 44874131 44874131 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 44874131 44874131 A G SNP H2AFV ENST00000308153 human ensembl 74_37 -1 known missense c.356 p.I119T 1.000 smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFV HGNC ENSG00000105968 43 0 0 39 7 15.2174 HUS1 0 genome.wustl.edu 37 7 48007476 48007476 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 48007476 48007476 T G SNP HUS1 ENST00000258774 human ensembl 74_37 -1 known missense c.687 p.E229D 0.413 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1 HGNC ENSG00000136273 83 0 0 76 13 14.6067 FOXK1 0 genome.wustl.edu 37 7 4800889 4800889 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 4800889 4800889 C T SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known missense c.1891 p.P631S 0.980 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 52 0 0 19 12 38.7097 SUN3 0 genome.wustl.edu 37 7 48056918 48056918 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 48056918 48056918 T C SNP SUN3 ENST00000297325 human ensembl 74_37 -1 known missense c.229 p.K77E 0.007 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN3 HGNC ENSG00000164744 27 0 0 28 5 15.1515 ABCA13 0 genome.wustl.edu 37 7 48318068 48318068 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 48318068 48318068 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.7277 p.L2426R 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 105 0 0 61 19 23.75 ABCA13 0 genome.wustl.edu 37 7 48319207 48319207 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 48319207 48319207 A C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.8416 p.N2806H 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 78 0 0 78 6 7.14286 ZPBP 0 genome.wustl.edu 37 7 50057857 50057857 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 50057857 50057857 T G SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known missense c.762 p.E254D 0.269 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 60 0 0 53 11 17.1875 WIPI2 0 genome.wustl.edu 37 7 5254322 5254322 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 5254322 5254322 A C SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known missense c.368 p.K123T 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 161 0 0 116 8 6.45161 PMS2 0 genome.wustl.edu 37 7 6026899 6026899 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 6026899 6026899 A C SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known silent c.1497 p.T499 0.000 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 135 0 0 76 35 31.5315 USP42 0 genome.wustl.edu 37 7 6193751 6193751 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 6193751 6193751 A G SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.2566 p.S856G 0.383 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 56 0 0 34 9 20.9302 STAG3L4 0 genome.wustl.edu 37 7 66773968 66773968 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 66773968 66773968 A C SNP STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors STAG3L4 HGNC ENSG00000106610 108 0 0 66 21 24.1379 TMEM60 0 genome.wustl.edu 37 7 77423463 77423463 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 77423463 77423463 T G SNP TMEM60 ENST00000257663 human ensembl 74_37 -1 known missense c.228 p.K76N 1.000 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 116 0 0 99 22 18.1818 PCLO 0 genome.wustl.edu 37 7 82785475 82785475 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 82785475 82785475 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.482 p.N161T 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 66 0 0 33 19 36.5385 CROT 0 genome.wustl.edu 37 7 87022280 87022280 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 87022280 87022280 T G SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.1615 p.F539V 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 210 0 0 129 46 26.2857 ABCB4 0 genome.wustl.edu 37 7 87072685 87072685 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 87072685 87072685 T C SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.1306 p.S436G 1.000 pfam_ABC_transporter-like,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 194 0 0 148 49 24.8731 ZNF804B 0 genome.wustl.edu 37 7 88962900 88962900 + Missense_Mutation SNP C C A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 88962900 88962900 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.604 p.Q202K 0.929 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 87 0 0 67 21 23.8636 SAMD9 0 genome.wustl.edu 37 7 92733452 92733452 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 92733452 92733452 T C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known silent c.1959 p.E653 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 133 0 0 113 6 5.04202 TAC1 0 genome.wustl.edu 37 7 97362037 97362037 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 97362037 97362037 A C SNP TAC1 ENST00000319273 human ensembl 74_37 +1 known missense c.113 p.D38A 1.000 prints_Protachykinin smart_Tachykinin,prints_Protachykinin - no_errors TAC1 HGNC ENSG00000006128 77 0 0 66 11 14.2857 TAC1 0 genome.wustl.edu 37 7 97363046 97363046 + Silent SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 97363046 97363046 G A SNP TAC1 ENST00000319273 human ensembl 74_37 +1 known silent c.135 p.P45 0.050 prints_Protachykinin smart_Tachykinin,prints_Protachykinin - no_errors TAC1 HGNC ENSG00000006128 87 0 0 75 18 19.3548 LMTK2 0 genome.wustl.edu 37 7 97820058 97820058 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 97820058 97820058 T G SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.1017 p.L339 0.938 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 265 0 0 207 24 10.3896 LMTK2 0 genome.wustl.edu 37 7 97821396 97821396 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 97821396 97821396 T G SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.1619 p.F540C 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 97 0 0 79 10 11.236 LMTK2 0 genome.wustl.edu 37 7 97821440 97821440 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 7 97821440 97821440 T G SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.1663 p.L555V 0.025 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 LMTK2 HGNC ENSG00000164715 92 0 0 68 9 11.6883 ATP6V1C1 0 genome.wustl.edu 37 8 104065044 104065044 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 104065044 104065044 A G SNP ATP6V1C1 ENST00000395862 human ensembl 74_37 +1 known missense c.467 p.K156R 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C1 HGNC ENSG00000155097 58 0 0 48 14 22.5806 KCNV1 0 genome.wustl.edu 37 8 110980514 110980514 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 110980514 110980514 A C SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.1306 p.F436V 1.000 prints_K_chnl_volt-dep_Kv8 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 102 0 0 89 12 11.8812 MTBP 0 genome.wustl.edu 37 8 121554271 121554271 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 121554271 121554271 A C SNP MTBP ENST00000519841 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MTBP HGNC ENSG00000172167 59 0 0 29 7 19.4444 ATAD2 0 genome.wustl.edu 37 8 124357232 124357232 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 124357232 124357232 T C SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.2610 p.G870 0.472 superfamily_P-loop_NTPase 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 186 0 0 149 12 7.45342 ADCY8 0 genome.wustl.edu 37 8 131795960 131795960 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 131795960 131795960 A G SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.3245 p.F1082S 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 35 0 0 43 6 12.2449 ADCY8 0 genome.wustl.edu 37 8 131796002 131796002 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 131796002 131796002 A C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.3203 p.L1068R 0.986 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 47 0 0 45 13 22.4138 EFR3A 0 genome.wustl.edu 37 8 132991146 132991146 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 132991146 132991146 T C SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.1379 p.F460S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 80 0 0 60 28 31.8182 KCNK9 0 genome.wustl.edu 37 8 140631316 140631316 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 140631316 140631316 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.310 p.D104N 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 35 0 0 21 15 41.6667 ZNF251 0 genome.wustl.edu 37 8 145947158 145947158 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 145947158 145947158 T G SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.1887 p.K629N 0.955 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 ZNF251 HGNC ENSG00000198169 64 0 0 37 6 13.9535 MSR1 0 genome.wustl.edu 37 8 16025998 16025998 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 16025998 16025998 T G SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.599 p.K200T 0.002 superfamily_STAT_TF_coiled-coil pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 59 0 0 46 13 22.0339 PCM1 0 genome.wustl.edu 37 8 17851033 17851033 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 17851033 17851033 A G SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.4732 p.S1578G 0.223 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 9 0 0 14 5 26.3158 REEP4 0 genome.wustl.edu 37 8 21997518 21997518 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 21997518 21997518 A C SNP REEP4 ENST00000306306 human ensembl 74_37 -1 known silent c.261 p.L87 0.997 pfam_TB2_DP1_HVA22 pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 19 0 0 13 4 23.5294 PPP3CC 0 genome.wustl.edu 37 8 22380024 22380024 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 22380024 22380024 T G SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known missense c.791 p.F264C 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 50 0 0 39 6 13.3333 ENTPD4 0 genome.wustl.edu 37 8 23299118 23299118 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 23299118 23299118 T G SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.846 p.E282D 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 116 1 0.854701 70 9 11.3924 EBF2 0 genome.wustl.edu 37 8 25766067 25766067 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 25766067 25766067 A C SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.556 p.F186V 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 46 0 0 36 4 10 NUGGC 0 genome.wustl.edu 37 8 27888776 27888776 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 27888776 27888776 T G SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known missense c.1892 p.N631T 0.005 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 173 0 0 112 41 26.7974 RNF122 0 genome.wustl.edu 37 8 33408905 33408905 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 33408905 33408905 T G SNP RNF122 ENST00000256257 human ensembl 74_37 -1 known missense c.185 p.K62T 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF122 HGNC ENSG00000133874 85 0 0 62 6 8.82353 KCNU1 0 genome.wustl.edu 37 8 36763254 36763254 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 36763254 36763254 T C SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.2038 p.S680P 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 105 0 0 72 5 6.49351 ANK1 0 genome.wustl.edu 37 8 41554227 41554227 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 41554227 41554227 T G SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2702 p.N901T 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 43 0 0 28 2 6.66667 AP3M2 0 genome.wustl.edu 37 8 42019931 42019931 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 42019931 42019931 A C SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.578 p.K193T 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C 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 AP3M2 HGNC ENSG00000070718 227 0 0 175 73 29.4355 THAP1 0 genome.wustl.edu 37 8 42693377 42693377 + Nonsense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 42693377 42693377 G A SNP THAP1 ENST00000254250 human ensembl 74_37 -1 known nonsense c.370 p.Q124* 0.966 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP1 HGNC ENSG00000131931 289 0 0 246 14 5.38462 PRKDC 0 genome.wustl.edu 37 8 48762039 48762039 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 48762039 48762039 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.7028 p.L2343P 0.454 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 81 0 0 54 17 23.9437 PRKDC 0 genome.wustl.edu 37 8 48809800 48809800 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 48809800 48809800 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.3519 p.L1173 0.006 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 202 0 0 159 23 12.6374 RP1 0 genome.wustl.edu 37 8 55542190 55542190 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 55542190 55542190 A C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.5748 p.Q1916H 0.989 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 119 0 0 94 24 20.339 LYN 0 genome.wustl.edu 37 8 56879353 56879353 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 56879353 56879353 A C SNP LYN ENST00000519728 human ensembl 74_37 +1 known missense c.870 p.E290D 0.981 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 73 0 0 49 14 22.2222 ASPH 0 genome.wustl.edu 37 8 62550538 62550538 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 62550538 62550538 T C SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.857 p.N286S 0.341 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 27 0 0 26 5 16.129 AGPAT5 0 genome.wustl.edu 37 8 6614805 6614805 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 6614805 6614805 T G SNP AGPAT5 ENST00000285518 human ensembl 74_37 +1 known missense c.991 p.L331V 0.104 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT5 HGNC ENSG00000155189 85 0 0 82 6 6.81818 TRIM55 0 genome.wustl.edu 37 8 67067892 67067892 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 67067892 67067892 T G SNP TRIM55 ENST00000276573 human ensembl 74_37 +1 known missense c.1559 p.L520R 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 70 0 0 50 11 18.0328 ARFGEF1 0 genome.wustl.edu 37 8 68139716 68139716 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 68139716 68139716 A T SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.3709 p.L1237I 1.000 pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 87 0 0 86 8 8.51064 NCOA2 0 genome.wustl.edu 37 8 71082536 71082536 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 71082536 71082536 T G SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known silent c.442 p.R148 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 22 0 0 16 5 23.8095 EYA1 0 genome.wustl.edu 37 8 72267124 72267124 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 72267124 72267124 A G SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.17 p.L6P 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 172 0 0 155 11 6.62651 UBE2W 0 genome.wustl.edu 37 8 74742629 74742629 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 74742629 74742629 T G SNP UBE2W ENST00000419880 human ensembl 74_37 -1 known missense c.214 p.N72H 1.000 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 UBE2W HGNC ENSG00000104343 91 0 0 64 24 27.2727 ZFHX4 0 genome.wustl.edu 37 8 77617339 77617339 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 77617339 77617339 A C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.1016 p.K339T 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 108 0 0 71 22 23.6559 CNGB3 0 genome.wustl.edu 37 8 87656904 87656904 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 87656904 87656904 A C SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1001 p.F334C 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 55 0 0 39 9 18.75 GDF6 0 genome.wustl.edu 37 8 97172781 97172781 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 8 97172781 97172781 T G SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.140 p.K47T 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 163 0 0 68 20 22.7273 FOXE1 0 genome.wustl.edu 37 9 100617166 100617166 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 100617166 100617166 T G SNP FOXE1 ENST00000375123 human ensembl 74_37 +1 known missense c.970 p.F324V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 13 0 0 5 3 37.5 COL15A1 0 genome.wustl.edu 37 9 101810103 101810103 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 101810103 101810103 T C SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known silent c.2715 p.F905 0.986 pfam_Collagen,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 242 0 0 189 28 12.9032 SVEP1 0 genome.wustl.edu 37 9 113220835 113220835 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 113220835 113220835 A C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.3492 p.S1164R 1.000 NULL pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 16 0 0 11 5 31.25 ZNF883 0 genome.wustl.edu 37 9 115759766 115759766 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 115759766 115759766 A C SNP ZNF883 ENST00000427548 human ensembl 74_37 -1 known rna NULL NULL 0.545 - - - no_errors ZNF883 HGNC ENSG00000228623 110 0 0 107 7 6.14035 ZNF883 0 genome.wustl.edu 37 9 115760586 115760586 + RNA SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 115760586 115760586 C T SNP ZNF883 ENST00000427548 human ensembl 74_37 -1 known rna NULL NULL 0.196 - - - no_errors ZNF883 HGNC ENSG00000228623 38 0 0 34 15 30.6122 ZFP37 0 genome.wustl.edu 37 9 115806455 115806455 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 115806455 115806455 T G SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known missense c.488 p.K163T 0.187 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP37 HGNC ENSG00000136866 116 0 0 76 31 28.972 PAPPA 0 genome.wustl.edu 37 9 119115949 119115949 + Silent SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 119115949 119115949 A C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.4224 p.G1408 0.741 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 129 0 0 114 16 12.3077 GSN 0 genome.wustl.edu 37 9 124079367 124079367 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 124079367 124079367 T C SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.910 p.S304P 1.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 145 0 0 82 28 25.4545 NUP214 0 genome.wustl.edu 37 9 134016018 134016018 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 134016018 134016018 T G SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.1215 p.N405K 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 88 0 0 73 13 15.1163 NUP214 0 genome.wustl.edu 37 9 134038401 134038401 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 134038401 134038401 A G SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.2567 p.E856G 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 79 0 0 57 13 18.5714 SETX 0 genome.wustl.edu 37 9 135144872 135144872 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 135144872 135144872 A C SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.7292 p.L2431R 0.001 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 86 0 0 63 13 17.1053 TTF1 0 genome.wustl.edu 37 9 135266034 135266034 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 135266034 135266034 T G SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.2172 p.E724D 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 183 0 0 113 51 31.0976 GFI1B 0 genome.wustl.edu 37 9 135865169 135865169 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 135865169 135865169 A G SNP GFI1B ENST00000339463 human ensembl 74_37 +1 known missense c.689 p.K230R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC ENSG00000165702 53 0 0 41 4 8.88889 MED22 0 genome.wustl.edu 37 9 136208461 136208461 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 136208461 136208461 A G SNP MED22 ENST00000343730 human ensembl 74_37 -1 known missense c.497 p.L166P 0.998 NULL pfam_Mediator_Med22 - no_errors MED22 HGNC ENSG00000148297 49 0 0 21 2 8.69565 BRD3 0 genome.wustl.edu 37 9 136906979 136906979 + Missense_Mutation SNP G G A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 136906979 136906979 G A SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.1310 p.A437V 0.109 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 30 0 0 13 10 43.4783 PNPLA7 0 genome.wustl.edu 37 9 140441763 140441763 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 140441763 140441763 A C SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.191 p.F64C 0.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 172 0 0 95 29 23.3871 BNC2 0 genome.wustl.edu 37 9 16436973 16436973 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 16436973 16436973 T C SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1219 p.N407D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 91 0 0 55 7 11.2903 BNC2 0 genome.wustl.edu 37 9 16738377 16738377 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 16738377 16738377 A C SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.110 p.V37G 0.010 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 44 0 0 35 4 10.2564 PLIN2 0 genome.wustl.edu 37 9 19120914 19120914 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 19120914 19120914 C T SNP PLIN2 ENST00000276914 human ensembl 74_37 -1 known missense c.559 p.V187I 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 165 0 0 120 14 10.4478 FOCAD 0 genome.wustl.edu 37 9 20995574 20995574 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 20995574 20995574 A G SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.5352 p.R1784 0.988 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 102 0 0 72 13 15.2941 FOCAD 0 genome.wustl.edu 37 9 20995592 20995592 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 20995592 20995592 G T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.5370 p.K1790N 1.000 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 104 0 0 59 12 16.9014 IFNW1 0 genome.wustl.edu 37 9 21141068 21141068 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 21141068 21141068 T C SNP IFNW1 ENST00000380229 human ensembl 74_37 -1 known missense c.502 p.R168G 0.641 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNW1 HGNC ENSG00000177047 91 0 0 110 7 5.98291 KIAA0020 0 genome.wustl.edu 37 9 2811528 2811528 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 2811528 2811528 A G SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known silent c.1468 p.L490 0.506 pfam_CPL,superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 154 0 0 124 24 16.2162 NDUFB6 0 genome.wustl.edu 37 9 32558948 32558948 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 32558948 32558948 T G SNP NDUFB6 ENST00000379847 human ensembl 74_37 -1 known missense c.278 p.K93T 0.989 pfam_NADH_DH_b-subcmplx_su6 pfam_NADH_DH_b-subcmplx_su6 - no_errors NDUFB6 HGNC ENSG00000165264 112 0 0 85 7 7.6087 AQP3 0 genome.wustl.edu 37 9 33443820 33443820 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 33443820 33443820 T G SNP AQP3 ENST00000297991 human ensembl 74_37 -1 known missense c.179 p.N60T 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_MIP - no_errors AQP3 HGNC ENSG00000165272 44 0 0 24 6 20 UBAP2 0 genome.wustl.edu 37 9 33953371 33953371 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 33953371 33953371 A G SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known missense c.968 p.L323P 1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 50 0 0 40 7 14.8936 DNAI1 0 genome.wustl.edu 37 9 34491532 34491532 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 34491532 34491532 T G SNP DNAI1 ENST00000242317 human ensembl 74_37 +1 known missense c.661 p.F221V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 70 0 0 54 10 15.625 TESK1 0 genome.wustl.edu 37 9 35607466 35607466 + RNA SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 35607466 35607466 A G SNP TESK1 ENST00000463897 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TESK1 HGNC ENSG00000107140 70 0 0 47 20 29.8507 SPAG8 0 genome.wustl.edu 37 9 35809798 35809798 + RNA SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 35809798 35809798 A C SNP SPAG8 ENST00000489063 human ensembl 74_37 -1 known rna NULL NULL 0.092 - - - no_errors SPAG8 HGNC ENSG00000137098 66 0 0 34 15 30.6122 FBXO10 0 genome.wustl.edu 37 9 37518122 37518122 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 37518122 37518122 T C SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known silent c.2514 p.K838 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 77 0 0 42 10 19.2308 SLC25A51 0 genome.wustl.edu 37 9 37888453 37888453 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 37888453 37888453 T G SNP SLC25A51 ENST00000242275 human ensembl 74_37 -1 known missense c.95 p.K32T 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 SLC25A51 HGNC ENSG00000122696 172 0 0 134 10 6.94444 SPATA31A6 0 genome.wustl.edu 37 9 43628663 43628663 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 43628663 43628663 C T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known silent c.279 p.E93 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 139 0 0 128 17 11.7241 CNTNAP3B 0 genome.wustl.edu 37 9 43844248 43844248 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 43844248 43844248 T G SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.1582 p.L528V 0.000 superfamily_ConA-like_lec_gl_sf,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 42 0 0 23 6 20.6897 SLC1A1 0 genome.wustl.edu 37 9 4490700 4490700 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 4490700 4490700 A C SNP SLC1A1 ENST00000262352 human ensembl 74_37 +1 known missense c.21 p.K7N 0.992 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A1 HGNC ENSG00000106688 26 0 0 19 8 29.6296 CDC37L1 0 genome.wustl.edu 37 9 4685004 4685004 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 4685004 4685004 A G SNP CDC37L1 ENST00000381854 human ensembl 74_37 +1 known missense c.260 p.E87G 1.000 NULL pfam_Cdc37_Hsp90-bd - no_errors CDC37L1 HGNC ENSG00000106993 90 0 0 73 8 9.87654 RLN1 0 genome.wustl.edu 37 9 5335303 5335303 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 5335303 5335303 T G SNP RLN1 ENST00000223862 human ensembl 74_37 -1 known missense c.506 p.E169A 0.021 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC ENSG00000107018 85 0 0 50 15 23.0769 KIAA1432 0 genome.wustl.edu 37 9 5747306 5747306 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 5747306 5747306 A C SNP KIAA1432 ENST00000418622 human ensembl 74_37 +1 known missense c.1016 p.N339T 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 74 0 0 74 5 6.32911 FAM189A2 0 genome.wustl.edu 37 9 71992295 71992295 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 71992295 71992295 T A SNP FAM189A2 ENST00000257515 human ensembl 74_37 +1 known missense c.262 p.F88I 1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 88 0 0 58 11 15.942 APBA1 0 genome.wustl.edu 37 9 72132044 72132044 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 72132044 72132044 T C SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.83 p.D28G 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 11 0 0 8 3 27.2727 VPS13A 0 genome.wustl.edu 37 9 79936645 79936645 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 79936645 79936645 T C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.5813 p.L1938P 0.971 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 75 0 0 42 19 31.1475 VPS13A 0 genome.wustl.edu 37 9 79954519 79954519 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 79954519 79954519 A C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.6466 p.K2156Q 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 30 0 0 18 5 21.7391 TLE4 0 genome.wustl.edu 37 9 82336771 82336771 + Missense_Mutation SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 82336771 82336771 C T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.2050 p.R684W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 82 0 0 50 8 13.7931 PTPRD 0 genome.wustl.edu 37 9 8338943 8338943 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 8338943 8338943 T G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.5358 p.E1786D 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_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 PTPRD HGNC ENSG00000153707 124 0 0 94 6 6 TLE1 0 genome.wustl.edu 37 9 84230907 84230907 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 84230907 84230907 T C SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known missense c.908 p.E303G 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 80 0 0 76 6 7.31707 PTPRD 0 genome.wustl.edu 37 9 8636748 8636748 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 8636748 8636748 T G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.161 p.K54T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 PTPRD HGNC ENSG00000153707 120 0 0 86 31 26.4957 CTSL3P 0 genome.wustl.edu 37 9 90388453 90388453 + RNA SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 90388453 90388453 T C SNP CTSL3P ENST00000354530 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTSL3P HGNC ENSG00000188029 94 0 0 59 24 28.9157 NFIL3 0 genome.wustl.edu 37 9 94172426 94172426 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 94172426 94172426 T G SNP NFIL3 ENST00000297689 human ensembl 74_37 -1 known missense c.591 p.E197D 0.019 pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4 pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC ENSG00000165030 70 0 0 62 11 15.0685 PTCH1 0 genome.wustl.edu 37 9 98231052 98231052 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 98231052 98231052 A G SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.2231 p.L744P 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 206 0 0 172 18 9.47368 PTCH1 0 genome.wustl.edu 37 9 98244295 98244295 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 98244295 98244295 T G SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.682 p.I228L 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 61 0 0 49 10 16.9492 CTSV 0 genome.wustl.edu 37 9 99797109 99797109 + Silent SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 9 99797109 99797109 T C SNP CTSV ENST00000259470 human ensembl 74_37 -1 known silent c.804 p.P268 0.001 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSV HGNC ENSG00000136943 87 0 0 58 14 19.4444 TAF7L 0 genome.wustl.edu 37 X 100536734 100536734 + Nonsense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 100536734 100536734 T A SNP TAF7L ENST00000372907 human ensembl 74_37 -1 known nonsense c.694 p.K232* 0.997 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 70 0 0 65 14 17.7215 GPRASP2 0 genome.wustl.edu 37 X 101970070 101970070 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 101970070 101970070 A G SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known silent c.273 p.Q91 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 107 0 0 51 60 54.0541 GLRA4 0 genome.wustl.edu 37 X 102979114 102979114 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 102979114 102979114 T G SNP GLRA4 ENST00000372617 human ensembl 74_37 -1 known missense c.386 p.K129T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 127 0 0 56 53 48.6239 NRK 0 genome.wustl.edu 37 X 105178289 105178289 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 105178289 105178289 T C SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.3355 p.S1119P 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 50 0 0 23 21 47.7273 MUM1L1 0 genome.wustl.edu 37 X 105450021 105450021 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 105450021 105450021 T A SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.596 p.L199H 0.027 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 16 0 0 13 4 23.5294 MID2 0 genome.wustl.edu 37 X 107167580 107167580 + Nonsense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 107167580 107167580 T A SNP MID2 ENST00000262843 human ensembl 74_37 +1 known nonsense c.1443 p.Y481* 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 50 0 0 14 29 67.4419 TEX13B 0 genome.wustl.edu 37 X 107225022 107225022 + Silent SNP C C T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 107225022 107225022 C T SNP TEX13B ENST00000302917 human ensembl 74_37 -1 known silent c.336 p.T112 0.001 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 130 0 0 57 57 50 COL4A5 0 genome.wustl.edu 37 X 107863537 107863537 + Missense_Mutation SNP T T A TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 107863537 107863537 T A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.2558 p.L853H 0.988 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 42 0 0 48 5 9.43396 CAPN6 0 genome.wustl.edu 37 X 110489860 110489860 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 110489860 110489860 T C SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.1871 p.K624R 0.992 superfamily_C2_dom pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 65 0 0 26 36 58.0645 ATP1B4 0 genome.wustl.edu 37 X 119509228 119509228 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 119509228 119509228 T G SNP ATP1B4 ENST00000218008 human ensembl 74_37 +1 known silent c.564 p.G188 0.906 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 ATP1B4 HGNC ENSG00000101892 74 0 0 40 25 38.4615 GLUD2 0 genome.wustl.edu 37 X 120182312 120182312 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 120182312 120182312 A T SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.774 p.K258N 0.998 prints_Glu/Leu/Phe/Val_DH pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 66 0 0 24 35 59.322 GRIA3 0 genome.wustl.edu 37 X 122616702 122616702 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 122616702 122616702 T C SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.2492 p.L831P 1.000 pfam_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA3 HGNC ENSG00000125675 96 0 0 39 36 48 TENM1 0 genome.wustl.edu 37 X 123680875 123680875 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 123680875 123680875 A G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.2500 p.C834R 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 50 0 0 47 5 9.61538 FAM45B 0 genome.wustl.edu 37 X 129629644 129629644 + RNA SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 129629644 129629644 T G SNP FAM45B ENST00000592932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM45B HGNC ENSG00000221930 74 0 0 73 7 8.75 CRLF2 0 genome.wustl.edu 37 X 1317546 1317546 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 1317546 1317546 T G SNP CRLF2 ENST00000381567 human ensembl 74_37 -1 known missense c.519 p.E173D 0.002 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF2 HGNC ENSG00000205755 63 0 0 40 13 24.5283 USP26 0 genome.wustl.edu 37 X 132160803 132160803 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 132160803 132160803 A G SNP USP26 ENST00000370832 human ensembl 74_37 -1 known silent c.1446 p.T482 0.001 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 134 0 0 58 78 57.3529 GPR112 0 genome.wustl.edu 37 X 135430503 135430503 + Silent SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 135430503 135430503 T G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.4638 p.G1546 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 105 0 0 47 46 49.4624 GPR112 0 genome.wustl.edu 37 X 135488095 135488095 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 135488095 135488095 T G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.8899 p.F2967V 0.869 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 123 0 0 65 71 52.2059 CSF2RA 0 genome.wustl.edu 37 X 1419418 1419418 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 1419418 1419418 A G SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.845 p.N282S 0.005 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 114 0 0 97 16 14.1593 AFF2 0 genome.wustl.edu 37 X 148037396 148037396 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 148037396 148037396 A G SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.1821 p.T607 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 99 0 0 71 29 29 MAMLD1 0 genome.wustl.edu 37 X 149671655 149671655 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 149671655 149671655 A G SNP MAMLD1 ENST00000262858 human ensembl 74_37 +1 known missense c.2152 p.S718G 1.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 72 0 0 66 4 5.71429 ASB9 0 genome.wustl.edu 37 X 15268632 15268632 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 15268632 15268632 T G SNP ASB9 ENST00000380488 human ensembl 74_37 -1 known missense c.488 p.K163T 0.003 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB9 HGNC ENSG00000102048 62 0 0 23 32 58.1818 OPN1MW 0 genome.wustl.edu 37 X 153461452 153461452 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 153461452 153461452 A C SNP OPN1MW ENST00000369935 human ensembl 74_37 +1 known missense c.1016 p.K339T 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Opsin_red/grn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW HGNC ENSG00000147380 33 0 0 20 6 23.0769 TMLHE 0 genome.wustl.edu 37 X 154736703 154736703 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 154736703 154736703 T G SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known missense c.851 p.K284T 0.839 pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 103 0 0 78 11 12.3596 SCML1 0 genome.wustl.edu 37 X 17771450 17771450 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 17771450 17771450 A G SNP SCML1 ENST00000380041 human ensembl 74_37 +1 known missense c.928 p.T310A 0.001 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SCML1 HGNC ENSG00000047634 66 0 0 59 7 10.6061 PHKA2 0 genome.wustl.edu 37 X 18924619 18924619 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 18924619 18924619 A G SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.2800 p.C934R 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 64 0 0 49 6 10.9091 PLCXD1 0 genome.wustl.edu 37 X 205517 205517 + Missense_Mutation SNP T T C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 205517 205517 T C SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known missense c.245 p.L82P 0.492 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD1 HGNC ENSG00000182378 78 0 0 57 5 8.06452 PTCHD1 0 genome.wustl.edu 37 X 23398122 23398122 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 23398122 23398122 T G SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.766 p.S256A 0.795 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 137 0 0 87 59 40.411 MAGEB2 0 genome.wustl.edu 37 X 30237447 30237447 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 30237447 30237447 A T SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.750 p.K250N 0.694 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 32 0 0 10 20 66.6667 GK 0 genome.wustl.edu 37 X 30737592 30737592 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 30737592 30737592 T G SNP GK ENST00000378943 human ensembl 74_37 +1 known missense c.1093 p.S365A 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK HGNC ENSG00000198814 36 0 0 25 10 28.5714 SYTL5 0 genome.wustl.edu 37 X 37984761 37984761 + Splice_Site SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 37984761 37984761 T G SNP SYTL5 ENST00000456733 human ensembl 74_37 +1 known splice_site c.2116+2 e16+2 1.000 - - - no_errors SYTL5 HGNC ENSG00000147041 32 0 0 12 29 70.7317 RPGR 0 genome.wustl.edu 37 X 38169936 38169936 + Missense_Mutation SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 38169936 38169936 A G SNP RPGR ENST00000378505 human ensembl 74_37 -1 known missense c.710 p.L237P 0.817 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 45 0 0 23 15 39.4737 EFHC2 0 genome.wustl.edu 37 X 44109672 44109672 + Missense_Mutation SNP G G T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 44109672 44109672 G T SNP EFHC2 ENST00000420999 human ensembl 74_37 -1 known missense c.626 p.P209H 0.996 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC2 HGNC ENSG00000183690 22 0 0 9 11 55 RGN 0 genome.wustl.edu 37 X 46951102 46951102 + Silent SNP A A G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 46951102 46951102 A G SNP RGN ENST00000336169 human ensembl 74_37 +1 known silent c.588 p.L196 1.000 pfam_SGL,prints_Regucalcin pfam_SGL,prints_SMP-30,prints_Regucalcin - no_errors RGN HGNC ENSG00000130988 49 0 0 18 25 58.1395 CCNB3 0 genome.wustl.edu 37 X 50051989 50051989 + Missense_Mutation SNP A A T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 50051989 50051989 A T SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.820 p.T274S 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 42 0 0 62 7 10.1449 SHOX 0 genome.wustl.edu 37 X 595445 595445 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 595445 595445 T G SNP SHOX ENST00000381578 human ensembl 74_37 +1 known missense c.370 p.F124V 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 35 0 0 13 10 43.4783 MAGEE1 0 genome.wustl.edu 37 X 75648336 75648336 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 75648336 75648336 A C SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.13 p.S5R 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 15 0 0 15 5 25 MAGEE1 0 genome.wustl.edu 37 X 75649840 75649840 + Missense_Mutation SNP A A C TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 75649840 75649840 A C SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1517 p.D506A 0.794 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 39 0 0 31 2 6.06061 ZNF711 0 genome.wustl.edu 37 X 84510394 84510394 + Missense_Mutation SNP T T G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a X 84510394 84510394 T G SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.143 p.V48G 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 111 0 0 55 71 56.3492 LHX9 0 genome.wustl.edu 37 1 197896912 197896913 + Frame_Shift_Del DEL AG AG - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 197896912 197896913 AG - DEL LHX9 ENST00000367387 human ensembl 74_37 +1 known frame_shift_del c.925_926 p.R309fs 1.000:1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 84 0 0 85 7 7.6087 USH2A 0 genome.wustl.edu 37 1 215972273 215972275 + In_Frame_Del DEL CTT CTT - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 215972273 215972275 CTT - DEL USH2A ENST00000366943 human ensembl 74_37 -1 known in_frame_del c.9934_9932 p.E3311in_frame_del 0.106:0.036:0.964 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 121 0 0 86 20 18.8679 DOCK7 0 genome.wustl.edu 37 1 62941104 62941104 + RNA DEL A A - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 62941104 62941104 A - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DOCK7 HGNC ENSG00000116641 32 0 0 27 3 10 ITGB3BP 0 genome.wustl.edu 37 1 63912545 63912546 + RNA INS - - T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 1 63912545 63912546 - T INS ITGB3BP ENST00000492655 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors ITGB3BP HGNC ENSG00000142856 46 0 0 48 4 7.69231 LIPF 0 genome.wustl.edu 37 10 90427073 90427074 + Frame_Shift_Ins INS - - TGGCAAGTTT TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 10 90427073 90427074 - TGGCAAGTTT INS LIPF ENST00000394375 human ensembl 74_37 +1 known frame_shift_ins c.49_50 p.L20fs 0.000:0.000 NULL pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 92 0 0 63 7 10 OR10A6 0 genome.wustl.edu 37 11 7950098 7950098 + Frame_Shift_Del DEL T T - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 11 7950098 7950098 T - DEL OR10A6 ENST00000309838 human ensembl 74_37 -1 known frame_shift_del c.112 p.T38fs 0.047 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 122 0 0 92 27 22.6891 SMAD9 0 genome.wustl.edu 37 13 37447008 37447008 + Frame_Shift_Del DEL G G - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 13 37447008 37447008 G - DEL SMAD9 ENST00000379826 human ensembl 74_37 -1 known frame_shift_del c.457 p.Q153fs 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 56 0 0 44 9 16.9811 MYLK3 0 genome.wustl.edu 37 16 46755107 46755107 + Splice_Site DEL T T - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 16 46755107 46755107 T - DEL MYLK3 ENST00000394809 human ensembl 74_37 -1 known splice_site_del c.1915-2 e9-2 1.000 - - - no_errors MYLK3 HGNC ENSG00000140795 93 0 0 90 8 8.16327 RPL12P38 0 genome.wustl.edu 37 17 58512419 58512419 + RNA DEL A A - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 17 58512419 58512419 A - DEL RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RPL12P38 HGNC ENSG00000213228 12 0 0 8 4 33.3333 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 20 0 0 13 6 31.5789 TTN 0 genome.wustl.edu 37 2 179452912 179452912 + Frame_Shift_Del DEL A A - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 179452912 179452912 A - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.55518 p.D18507fs 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 53 0 0 50 5 9.09091 NEUROD1 0 genome.wustl.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 2 182542971 182542972 - G INS NEUROD1 ENST00000295108 human ensembl 74_37 -1 known frame_shift_ins c.617_616 p.H206fs 0.999:0.996 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 126 0 0 74 18 19.5652 DMXL1 0 genome.wustl.edu 37 5 118502338 118502339 + Frame_Shift_Ins INS - - T TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 118502338 118502339 - T INS DMXL1 ENST00000539542 human ensembl 74_37 +1 known frame_shift_ins c.4998_4999 p.G1668fs 1.000:1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 83 0 0 59 26 30.5882 KIAA0947 0 genome.wustl.edu 37 5 5460799 5460799 + Frame_Shift_Del DEL A A - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 5 5460799 5460799 A - DEL KIAA0947 ENST00000296564 human ensembl 74_37 +1 known frame_shift_del c.1352 p.E451fs 0.031 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 58 0 0 42 13 23.6364 PHF10 0 genome.wustl.edu 37 6 170105268 170105268 + Frame_Shift_Del DEL A A - TCGA-BR-8589-01A-11D-2394-08 TCGA-BR-8589-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9bac4806-1772-4b40-b2d1-b55ed1674019 d5ee4fdc-25db-4fe2-b078-0406e217ee5a 6 170105268 170105268 A - DEL PHF10 ENST00000339209 human ensembl 74_37 -1 known frame_shift_del c.1372 p.Y458fs 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF10 HGNC ENSG00000130024 85 0 0 70 16 18.6047