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 UBE4B 0 genome.wustl.edu 37 1 10190583 10190583 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 10190583 10190583 C T SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.1721 p.P574L 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 392 0 0 138 55 28.4974 KIF1B 0 genome.wustl.edu 37 1 10363659 10363659 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 10363659 10363659 G A SNP KIF1B ENST00000377083 human ensembl 74_37 +1 known missense c.2416 p.V806I 0.009 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 146 0 0 45 20 30.7692 CASZ1 0 genome.wustl.edu 37 1 10725240 10725240 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 10725240 10725240 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.405 p.H135 0.873 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 107 0 0 33 14 29.7872 NTNG1 0 genome.wustl.edu 37 1 107691423 107691423 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 107691423 107691423 A G SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.208 p.I70V 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 189 0 0 75 33 30.5556 SARS 0 genome.wustl.edu 37 1 109772189 109772189 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 109772189 109772189 G A SNP SARS ENST00000369923 human ensembl 74_37 +1 known missense c.442 p.D148N 1.000 pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 371 1 0.268817 110 39 26.1745 SYPL2 0 genome.wustl.edu 37 1 110020512 110020512 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 110020512 110020512 G A SNP SYPL2 ENST00000369872 human ensembl 74_37 +1 known missense c.529 p.D177N 1.000 pfam_Marvel pfam_Marvel,prints_Synaptophysin/porin - no_errors SYPL2 HGNC ENSG00000143028 133 0 0 54 5 8.47458 ATXN7L2 0 genome.wustl.edu 37 1 110029769 110029769 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 110029769 110029769 A G SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.439 p.R147G 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 18 0 0 16 3 15.7895 CAPZA1 0 genome.wustl.edu 37 1 113202313 113202313 + RNA SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 113202313 113202313 G T SNP CAPZA1 ENST00000466066 human ensembl 74_37 +1 known rna NULL NULL 0.086 - - - no_errors CAPZA1 HGNC ENSG00000116489 54 0 0 21 10 32.2581 OLFML3 0 genome.wustl.edu 37 1 114522210 114522210 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 114522210 114522210 C G SNP OLFML3 ENST00000320334 human ensembl 74_37 +1 known missense c.72 p.H24Q 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 111 0 0 28 13 31.7073 BCAS2 0 genome.wustl.edu 37 1 115123933 115123933 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 115123933 115123933 T C SNP BCAS2 ENST00000369541 human ensembl 74_37 -1 known missense c.173 p.Y58C 1.000 pfam_SPF27 pfam_SPF27 - no_errors BCAS2 HGNC ENSG00000116752 484 0 0 174 71 28.9796 SDF4 0 genome.wustl.edu 37 1 1153181 1153181 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 1153181 1153181 C T SNP SDF4 ENST00000263741 human ensembl 74_37 -1 known missense c.916 p.V306M 0.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SDF4 HGNC ENSG00000078808 67 0 0 19 7 26.9231 IGSF3 0 genome.wustl.edu 37 1 117142915 117142915 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 117142915 117142915 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.1737 p.S579 0.896 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 80 0 0 25 3 10.7143 HAO2 0 genome.wustl.edu 37 1 119925576 119925576 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 119925576 119925576 A C SNP HAO2 ENST00000361035 human ensembl 74_37 +1 known missense c.209 p.E70A 0.042 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 54 0 0 11 11 50 MIIP 0 genome.wustl.edu 37 1 12091856 12091856 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 12091856 12091856 G A SNP MIIP ENST00000436478 human ensembl 74_37 +1 known missense c.1061 p.R354K 0.131 NULL NULL - no_errors MIIP HGNC ENSG00000116691 191 0 0 53 26 32.9114 CPSF3L 0 genome.wustl.edu 37 1 1248900 1248900 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 1248900 1248900 C T SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.1048 p.E350K 1.000 pfam_Beta_Casp pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 172 0 0 45 16 26.2295 AURKAIP1 0 genome.wustl.edu 37 1 1309707 1309707 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 1309707 1309707 C T SNP AURKAIP1 ENST00000321751 human ensembl 74_37 -1 known silent c.171 p.Q57 0.149 NULL pfam_DUF1713_mit - no_errors AURKAIP1 HGNC ENSG00000175756 63 0 0 17 9 34.6154 ATAD3B 0 genome.wustl.edu 37 1 1431165 1431165 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 1431165 1431165 C T SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known missense c.1915 p.P639S 0.003 NULL pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 60 0 0 14 4 22.2222 PDE4DIP 0 genome.wustl.edu 37 1 144912234 144912234 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 144912234 144912234 G A SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.2041 p.R681C 1.000 superfamily_ARM-type_fold pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 128 0 0 105 15 12.5 PIAS3 0 genome.wustl.edu 37 1 145578250 145578250 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 145578250 145578250 G A SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known silent c.213 p.G71 0.954 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 320 1 0.311526 104 153 59.5331 LOC100996735 0 genome.wustl.edu 37 1 148933289 148933289 + Splice_Site SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 148933289 148933289 A G SNP LOC100996735 ENST00000294715 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.194 - - - no_errors RP11-14N7.2 Clone_based_vega_gene ENSG00000232527 33 0 0 30 3 9.09091 SSU72 0 genome.wustl.edu 37 1 1500029 1500029 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 1500029 1500029 G A SNP SSU72 ENST00000359060 human ensembl 74_37 -1 known silent c.348 p.C116 0.001 NULL pfam_RNA_pol_II_suA,superfamily_Ptyr_pPase_SF - no_errors SSU72 HGNC ENSG00000160075 105 0 0 42 17 28.8136 CGN 0 genome.wustl.edu 37 1 151498178 151498178 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 151498178 151498178 A C SNP CGN ENST00000271636 human ensembl 74_37 +1 known silent c.1675 p.R559 0.999 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 87 0 0 46 12 20.6897 HRNR 0 genome.wustl.edu 37 1 152191477 152191477 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 152191477 152191477 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.2628 p.H876 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 188 0 0 131 38 22.4852 FLG 0 genome.wustl.edu 37 1 152276878 152276878 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 152276878 152276878 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.10484 p.S3495L 0.006 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 605 0 0 405 87 17.6829 FLG 0 genome.wustl.edu 37 1 152280586 152280586 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 152280586 152280586 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6776 p.R2259Q 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 534 0 0 390 86 18.0672 FLG 0 genome.wustl.edu 37 1 152282533 152282533 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 152282533 152282533 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.4829 p.R1610Q 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 422 0 0 143 215 60.0559 LCE1D 0 genome.wustl.edu 37 1 152770396 152770396 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 152770396 152770396 C A SNP LCE1D ENST00000326233 human ensembl 74_37 +1 known silent c.126 p.V42 0.009 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 216 0 0 143 24 14.3713 NUP210L 0 genome.wustl.edu 37 1 154030659 154030659 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 154030659 154030659 T G SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known silent c.3013 p.R1005 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 235 0 0 96 87 47.541 ZBTB7B 0 genome.wustl.edu 37 1 154988174 154988174 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 154988174 154988174 G A SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known silent c.1140 p.Q380 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZBTB7B HGNC ENSG00000160685 171 0 0 71 8 10.1266 ADAM15 0 genome.wustl.edu 37 1 155028261 155028261 + Splice_Site SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 155028261 155028261 A G SNP ADAM15 ENST00000472434 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.996 - - - no_errors ADAM15 HGNC ENSG00000143537 253 0 0 47 76 61.7886 MEX3A 0 genome.wustl.edu 37 1 156046750 156046750 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 156046750 156046750 G A SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.1178 p.A393V 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 34 0 0 29 11 27.5 INSRR 0 genome.wustl.edu 37 1 156811544 156811544 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 156811544 156811544 C T SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.3440 p.R1147H 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,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 INSRR HGNC ENSG00000027644 242 0 0 132 19 12.5828 FCRL1 0 genome.wustl.edu 37 1 157765955 157765955 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 157765955 157765955 G T SNP FCRL1 ENST00000358292 human ensembl 74_37 -1 known missense c.1097 p.P366H 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 94 0 0 59 19 24.359 CD1A 0 genome.wustl.edu 37 1 158224939 158224939 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 158224939 158224939 C A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.124 p.Q42K 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 147 0 0 117 29 19.863 CD1A 0 genome.wustl.edu 37 1 158224948 158224948 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 158224948 158224948 G A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.133 p.V45I 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 150 0 0 119 29 19.5946 MNDA 0 genome.wustl.edu 37 1 158813818 158813818 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 158813818 158813818 C T SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.476 p.P159L 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 308 1 0.323625 217 34 13.5458 CADM3 0 genome.wustl.edu 37 1 159163671 159163671 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 159163671 159163671 C T SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.634 p.R212C 0.000 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 74 0 0 25 32 56.1404 IGSF8 0 genome.wustl.edu 37 1 160062767 160062767 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 160062767 160062767 C T SNP IGSF8 ENST00000314485 human ensembl 74_37 -1 known missense c.1259 p.R420H 0.997 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 79 0 0 40 6 13.0435 ATP1A4 0 genome.wustl.edu 37 1 160121890 160121890 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 160121890 160121890 A T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.60 p.R20S 0.000 NULL 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 ATP1A4 HGNC ENSG00000132681 88 0 0 55 13 19.1176 CASQ1 0 genome.wustl.edu 37 1 160165279 160165279 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 160165279 160165279 G T SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known missense c.606 p.E202D 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 172 0 0 78 51 39.5349 VANGL2 0 genome.wustl.edu 37 1 160390844 160390844 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 160390844 160390844 A C SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known missense c.940 p.N314H 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 86 0 0 51 11 17.7419 SLAMF7 0 genome.wustl.edu 37 1 160721212 160721212 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 160721212 160721212 G C SNP SLAMF7 ENST00000368043 human ensembl 74_37 +1 known missense c.847 p.E283Q 0.003 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF7 HGNC ENSG00000026751 192 0 0 167 57 25.4464 ADAMTS4 0 genome.wustl.edu 37 1 161163914 161163914 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 161163914 161163914 G A SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known silent c.1359 p.F453 0.783 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 231 0 0 102 22 17.7419 HSPA6 0 genome.wustl.edu 37 1 161495916 161495916 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 161495916 161495916 G A SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.1468 p.V490M 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 106 0 0 32 39 54.9296 SPEN 0 genome.wustl.edu 37 1 16263675 16263675 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 16263675 16263675 T C SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.10044 p.G3348 0.922 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 179 0 0 51 21 29.1667 CLCNKA 0 genome.wustl.edu 37 1 16358730 16358730 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 16358730 16358730 G A SNP CLCNKA ENST00000331433 human ensembl 74_37 +1 known missense c.1789 p.A597T 0.995 pfam_CBS_dom,smart_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 158 0 0 40 12 23.0769 LMX1A 0 genome.wustl.edu 37 1 165218837 165218837 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 165218837 165218837 C T SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known missense c.304 p.A102T 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 73 0 0 50 13 20.6349 SELE 0 genome.wustl.edu 37 1 169699580 169699580 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 169699580 169699580 G T SNP SELE ENST00000333360 human ensembl 74_37 -1 known silent c.708 p.A236 0.554 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 137 0 0 107 25 18.9394 SUCO 0 genome.wustl.edu 37 1 172558186 172558186 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 172558186 172558186 C T SNP SUCO ENST00000608151 human ensembl 74_37 +1 known nonsense c.2401 p.R801* 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 83 0 0 114 13 10.2362 PADI2 0 genome.wustl.edu 37 1 17397901 17397901 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 17397901 17397901 C A SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.1635 p.Q545H 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 76 0 0 48 3 5.88235 PADI3 0 genome.wustl.edu 37 1 17597402 17597402 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 17597402 17597402 A G SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.860 p.D287G 1.000 pfam_PAD_C,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 PADI3 HGNC ENSG00000142619 129 0 0 33 11 25 RFWD2 0 genome.wustl.edu 37 1 176015447 176015447 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 176015447 176015447 G A SNP RFWD2 ENST00000367669 human ensembl 74_37 -1 known missense c.1291 p.R431W 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 59 0 0 29 42 59.1549 ASTN1 0 genome.wustl.edu 37 1 177001771 177001771 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 177001771 177001771 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.686 p.G229D 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 125 0 0 91 29 24.1667 BRINP2 0 genome.wustl.edu 37 1 177199054 177199054 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 177199054 177199054 G A SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known silent c.42 p.P14 0.908 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 91 0 0 85 9 9.57447 GLUL 0 genome.wustl.edu 37 1 182353564 182353564 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 182353564 182353564 A G SNP GLUL ENST00000311223 human ensembl 74_37 -1 known silent c.1098 p.D366 0.296 NULL pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 52 0 0 31 5 13.8889 DHX9 0 genome.wustl.edu 37 1 182844070 182844070 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 182844070 182844070 A G SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.1796 p.D599G 1.000 superfamily_P-loop_NTPase 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 109 0 0 61 50 45.045 LAMC1 0 genome.wustl.edu 37 1 183079760 183079760 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 183079760 183079760 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.992 p.A331V 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 294 0 0 224 41 15.4717 PRG4 0 genome.wustl.edu 37 1 186273298 186273298 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 186273298 186273298 T G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known silent c.378 p.S126 0.617 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 116 0 0 44 75 63.0252 BRINP3 0 genome.wustl.edu 37 1 190233999 190233999 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 190233999 190233999 A C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.614 p.I205R 1.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 120 0 0 81 26 24.2991 RGS1 0 genome.wustl.edu 37 1 192548282 192548282 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 192548282 192548282 C A SNP RGS1 ENST00000367459 human ensembl 74_37 +1 known missense c.460 p.R154S 0.007 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS1 HGNC ENSG00000090104 161 0 0 95 21 18.1034 UBR4 0 genome.wustl.edu 37 1 19441312 19441312 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 19441312 19441312 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.11195 p.R3732Q 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 236 0 0 89 47 34.5588 ASPM 0 genome.wustl.edu 37 1 197070110 197070110 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 197070110 197070110 T A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.8271 p.K2757N 0.000 pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 107 0 0 46 53 53.5354 PTPRC 0 genome.wustl.edu 37 1 198701498 198701498 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 198701498 198701498 C T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.2044 p.R682C 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 63 0 0 30 34 53.125 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp 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 366 0 0 117 42 26.4151 PLXNA2 0 genome.wustl.edu 37 1 208216456 208216456 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 208216456 208216456 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known nonsense c.3967 p.R1323* 0.998 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 123 0 0 30 21 41.1765 TRAF3IP3 0 genome.wustl.edu 37 1 209933484 209933484 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 209933484 209933484 C A SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.100 p.R34S 0.975 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 70 0 0 23 16 41.0256 DIEXF 0 genome.wustl.edu 37 1 210004282 210004282 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 210004282 210004282 G A SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known silent c.282 p.E94 0.568 NULL pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 152 0 0 92 35 27.5591 ALPL 0 genome.wustl.edu 37 1 21903914 21903914 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 21903914 21903914 C T SNP ALPL ENST00000374832 human ensembl 74_37 +1 known missense c.1348 p.R450C 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 147 0 0 34 15 30.6122 IARS2 0 genome.wustl.edu 37 1 220311323 220311323 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 220311323 220311323 G T SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.2113 p.V705F 0.996 pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 131 0 0 105 37 26.0563 RAB3GAP2 0 genome.wustl.edu 37 1 220327384 220327384 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 220327384 220327384 A G SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.3571 p.F1191L 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 122 0 0 112 34 23.2877 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 425 0 0 125 42 25.1497 EPHX1 0 genome.wustl.edu 37 1 226032198 226032198 + Splice_Site SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 226032198 226032198 G A SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known splice_site c.1041-1 e7-1 1.000 - - - no_errors EPHX1 HGNC ENSG00000143819 143 0 0 58 22 27.5 ARF1 0 genome.wustl.edu 37 1 228285130 228285130 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 228285130 228285130 G A SNP ARF1 ENST00000272102 human ensembl 74_37 +1 known missense c.236 p.R79H 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF1 HGNC ENSG00000143761 188 0 0 64 27 29.6703 GUK1 0 genome.wustl.edu 37 1 228334592 228334592 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 228334592 228334592 C T SNP GUK1 ENST00000366722 human ensembl 74_37 +1 known silent c.204 p.G68 0.004 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase - no_errors GUK1 HGNC ENSG00000143774 191 0 0 47 13 21.6667 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 238 0 0 55 29 34.5238 OBSCN 0 genome.wustl.edu 37 1 228538598 228538598 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 228538598 228538598 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.18373 p.A6125T 0.041 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 149 0 0 33 7 17.5 NUP133 0 genome.wustl.edu 37 1 229619808 229619808 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 229619808 229619808 A G SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.1585 p.Y529H 0.997 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 79 0 0 36 18 33.3333 TRIM67 0 genome.wustl.edu 37 1 231299602 231299602 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 231299602 231299602 C T SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.887 p.T296M 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,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 - no_errors TRIM67 HGNC ENSG00000119283 15 0 0 3 3 50 NTPCR 0 genome.wustl.edu 37 1 233105691 233105691 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 233105691 233105691 G A SNP NTPCR ENST00000366628 human ensembl 74_37 +1 known missense c.331 p.V111I 0.543 pfam_Nuc-triphosphatase_THEP1,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Nuc-triphosphatase_THEP1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NTPCR HGNC ENSG00000135778 169 0 0 98 8 7.54717 RYR2 0 genome.wustl.edu 37 1 237755119 237755119 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 237755119 237755119 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4235 p.R1412Q 0.986 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 51 0 0 16 19 54.2857 PLD5 0 genome.wustl.edu 37 1 242511409 242511409 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 242511409 242511409 G A SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known nonsense c.325 p.R109* 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 237 0 0 103 45 30.4054 ZNF695 0 genome.wustl.edu 37 1 247163303 247163303 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 247163303 247163303 C T SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.77 p.R26Q 0.700 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 ZNF695 HGNC ENSG00000197472 135 0 0 62 22 26.1905 OR6F1 0 genome.wustl.edu 37 1 247876039 247876039 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 247876039 247876039 T C SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.19 p.T7A 0.027 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 172 0 0 55 57 50.8929 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 12 0 0 7 6 46.1538 SRSF4 0 genome.wustl.edu 37 1 29475301 29475301 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 29475301 29475301 C T SNP SRSF4 ENST00000373795 human ensembl 74_37 -1 known missense c.1106 p.R369H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF4 HGNC ENSG00000116350 72 0 0 29 14 32.5581 BAI2 0 genome.wustl.edu 37 1 32193178 32193178 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 32193178 32193178 C A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.4601 p.S1534I 0.966 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 31 0 0 8 4 33.3333 PRDM16 0 genome.wustl.edu 37 1 3328286 3328286 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 3328286 3328286 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1525 p.A509T 0.048 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 380 0 0 88 42 32.3077 ARHGEF16 0 genome.wustl.edu 37 1 3386085 3386085 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 3386085 3386085 G A SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known missense c.950 p.R317Q 0.881 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 169 0 0 41 9 18 CCDC27 0 genome.wustl.edu 37 1 3669276 3669276 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 3669276 3669276 C T SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known silent c.231 p.D77 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 120 0 0 19 14 42.4242 EPHA10 0 genome.wustl.edu 37 1 38227513 38227513 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 38227513 38227513 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known silent c.414 p.G138 0.905 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 187 0 0 40 24 37.5 ZNF684 0 genome.wustl.edu 37 1 41012975 41012975 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 41012975 41012975 A G SNP ZNF684 ENST00000372699 human ensembl 74_37 +1 known missense c.980 p.Y327C 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF684 HGNC ENSG00000117010 240 0 0 91 52 36.3636 HIVEP3 0 genome.wustl.edu 37 1 42049392 42049392 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 42049392 42049392 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.1077 p.T359 0.038 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 191 1 0.520833 58 29 33.3333 CDC20 0 genome.wustl.edu 37 1 43825904 43825904 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 43825904 43825904 C T SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known silent c.597 p.A199 0.449 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 CDC20 HGNC ENSG00000117399 298 0 0 99 38 27.7372 ZSWIM5 0 genome.wustl.edu 37 1 45501386 45501386 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 45501386 45501386 G T SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known silent c.2265 p.S755 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 106 0 0 38 17 30.9091 LRRC41 0 genome.wustl.edu 37 1 46745250 46745250 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 46745250 46745250 C T SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.2057 p.R686H 0.997 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 352 1 0.283286 122 7 5.42636 STIL 0 genome.wustl.edu 37 1 47717402 47717402 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 47717402 47717402 A G SNP STIL ENST00000371877 human ensembl 74_37 -1 known silent c.3273 p.C1091 0.355 NULL NULL - no_errors STIL HGNC ENSG00000123473 329 2 0.60423 186 43 18.7773 RAB3B 0 genome.wustl.edu 37 1 52403066 52403066 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 52403066 52403066 G A SNP RAB3B ENST00000371655 human ensembl 74_37 -1 known missense c.247 p.R83W 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_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 RAB3B HGNC ENSG00000169213 263 0 0 76 41 35.0427 C1orf123 0 genome.wustl.edu 37 1 53686074 53686074 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 53686074 53686074 C T SNP C1orf123 ENST00000470385 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors C1orf123 HGNC ENSG00000162384 36 0 0 14 7 33.3333 LDLRAD1 0 genome.wustl.edu 37 1 54476062 54476062 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 54476062 54476062 G A SNP LDLRAD1 ENST00000371360 human ensembl 74_37 -1 known missense c.362 p.P121L 0.999 smart_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD1 HGNC ENSG00000203985 63 0 0 22 6 21.4286 DHCR24 0 genome.wustl.edu 37 1 55337163 55337163 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 55337163 55337163 G A SNP DHCR24 ENST00000371269 human ensembl 74_37 -1 known missense c.736 p.R246W 0.041 NULL pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors DHCR24 HGNC ENSG00000116133 151 0 0 40 22 35.4839 SGIP1 0 genome.wustl.edu 37 1 67160990 67160990 + RNA SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 67160990 67160990 T C SNP SGIP1 ENST00000320161 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors SGIP1 HGNC ENSG00000118473 20 0 0 7 5 41.6667 PTGER3 0 genome.wustl.edu 37 1 71512689 71512689 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 71512689 71512689 A T SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known missense c.572 p.L191Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 132 0 0 43 15 25.8621 PTGER3 0 genome.wustl.edu 37 1 71512701 71512701 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 71512701 71512701 G T SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known missense c.560 p.A187D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 110 0 0 32 15 31.9149 CAMTA1 0 genome.wustl.edu 37 1 7797322 7797322 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 7797322 7797322 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.3350 p.A1117V 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 255 0 0 103 40 27.972 WDR63 0 genome.wustl.edu 37 1 85592282 85592282 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 85592282 85592282 G A SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.2201 p.G734D 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 76 0 0 44 15 25.4237 GBP1 0 genome.wustl.edu 37 1 89528741 89528741 + Silent SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 89528741 89528741 A T SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known silent c.177 p.A59 0.998 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 111 0 0 54 18 25 SPSB1 0 genome.wustl.edu 37 1 9427508 9427508 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 9427508 9427508 C T SNP SPSB1 ENST00000328089 human ensembl 74_37 +1 known silent c.696 p.P232 0.657 superfamily_ConA-like_lec_gl_sf,pfscan_SOCS_C pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB1 HGNC ENSG00000171621 275 1 0.362319 90 42 31.8182 DNMBP 0 genome.wustl.edu 37 10 101645575 101645575 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 101645575 101645575 C T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.3739 p.E1247K 1.000 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 29 0 0 13 3 18.75 CWF19L1 0 genome.wustl.edu 37 10 101996719 101996719 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 101996719 101996719 G T SNP CWF19L1 ENST00000354105 human ensembl 74_37 -1 known missense c.1262 p.P421H 1.000 pfam_Cwf19-like_C_dom-1 pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 265 0 0 107 26 19.5489 POLL 0 genome.wustl.edu 37 10 103342587 103342587 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 103342587 103342587 C T SNP POLL ENST00000299206 human ensembl 74_37 -1 known missense c.1127 p.G376D 1.000 pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X_beta-like pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLL HGNC ENSG00000166169 242 0 0 69 21 23.3333 C10orf76 0 genome.wustl.edu 37 10 103716445 103716445 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 103716445 103716445 G A SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known silent c.1614 p.G538 0.055 pfam_DUF1741,superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 99 0 0 30 18 37.5 PITX3 0 genome.wustl.edu 37 10 103990802 103990802 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 103990802 103990802 G T SNP PITX3 ENST00000370002 human ensembl 74_37 -1 known silent c.378 p.A126 0.500 superfamily_Homeodomain-like,pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX3 HGNC ENSG00000107859 23 0 0 6 5 45.4545 TMEM180 0 genome.wustl.edu 37 10 104230587 104230587 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 104230587 104230587 G A SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known silent c.417 p.T139 0.131 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 289 0 0 67 39 36.7925 ACTR1A 0 genome.wustl.edu 37 10 104248022 104248022 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 104248022 104248022 C T SNP ACTR1A ENST00000369905 human ensembl 74_37 -1 known missense c.200 p.G67E 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1A HGNC ENSG00000138107 198 0 0 58 16 21.6216 PDCD11 0 genome.wustl.edu 37 10 105200319 105200319 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 105200319 105200319 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.4421 p.R1474Q 0.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 74 0 0 23 15 39.4737 CALHM2 0 genome.wustl.edu 37 10 105209370 105209370 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 105209370 105209370 G A SNP CALHM2 ENST00000260743 human ensembl 74_37 -1 known missense c.329 p.A110V 0.887 NULL NULL - no_errors CALHM2 HGNC ENSG00000138172 187 1 0.531915 52 27 34.1772 DUSP5 0 genome.wustl.edu 37 10 112258051 112258051 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 112258051 112258051 G A SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known missense c.172 p.G58S 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom,prints_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 77 0 0 11 5 31.25 ADRA2A 0 genome.wustl.edu 37 10 112838242 112838242 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 112838242 112838242 G A SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.488 p.R163H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam 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 95 0 0 23 13 36.1111 CCDC172 0 genome.wustl.edu 37 10 118117366 118117366 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 118117366 118117366 A G SNP CCDC172 ENST00000333254 human ensembl 74_37 +1 known missense c.569 p.N190S 0.105 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 55 0 0 19 7 26.9231 EIF3A 0 genome.wustl.edu 37 10 120801712 120801712 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 120801712 120801712 C T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.3320 p.R1107Q 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 363 1 0.274725 109 44 28.7582 TACC2 0 genome.wustl.edu 37 10 123845520 123845520 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 123845520 123845520 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.3505 p.G1169R 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 73 0 0 45 3 6.25 CHST15 0 genome.wustl.edu 37 10 125805494 125805494 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 125805494 125805494 G A SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known nonsense c.235 p.R79* 0.999 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 147 0 0 45 24 34.7826 OAT 0 genome.wustl.edu 37 10 126097148 126097148 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 126097148 126097148 C T SNP OAT ENST00000368845 human ensembl 74_37 -1 known silent c.483 p.K161 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 162 0 0 49 18 26.8657 GPR123 0 genome.wustl.edu 37 10 134941863 134941863 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 134941863 134941863 C T SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative silent c.2688 p.G896 0.729 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 59 0 0 6 3 33.3333 KNDC1 0 genome.wustl.edu 37 10 135020656 135020656 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 135020656 135020656 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3601 p.R1201C 0.999 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 29 0 0 10 6 37.5 TUBGCP2 0 genome.wustl.edu 37 10 135099117 135099117 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 135099117 135099117 G T SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known missense c.1822 p.H608N 1.000 pfam_TUBGCP pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 65 0 0 12 4 25 PTER 0 genome.wustl.edu 37 10 16528558 16528558 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 16528558 16528558 C T SNP PTER ENST00000298942 human ensembl 74_37 +1 known nonsense c.640 p.R214* 1.000 pfam_Aryldialkylphosphatase,pfam_TatD_family pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 134 1 0.740741 64 17 20.9877 CUBN 0 genome.wustl.edu 37 10 16955916 16955916 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 16955916 16955916 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.7427 p.R2476Q 0.966 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 217 1 0.458716 67 13 16.25 PTCHD3P1 0 genome.wustl.edu 37 10 29710450 29710450 + RNA SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 29710450 29710450 T C SNP PTCHD3P1 ENST00000427063 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors PTCHD3P1 HGNC ENSG00000224597 77 0 0 27 13 32.5 KIAA1462 0 genome.wustl.edu 37 10 30315148 30315148 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 30315148 30315148 C T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.3929 p.R1310H 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 151 1 0.657895 71 32 31.068 MAP3K8 0 genome.wustl.edu 37 10 30739267 30739267 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 30739267 30739267 C T SNP MAP3K8 ENST00000263056 human ensembl 74_37 +1 known silent c.585 p.G195 0.041 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 MAP3K8 HGNC ENSG00000107968 174 0 0 44 18 29.0323 ZNF33B 0 genome.wustl.edu 37 10 43088761 43088761 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 43088761 43088761 G A SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.1637 p.T546M 0.995 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 ZNF33B HGNC ENSG00000196693 251 0 0 112 64 36.3636 ZNF32-AS2 0 genome.wustl.edu 37 10 44141585 44141585 + RNA SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 44141585 44141585 C A SNP ZNF32-AS2 ENST00000418966 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF32-AS2 HGNC ENSG00000230565 70 0 0 32 10 23.8095 NPY4R 0 genome.wustl.edu 37 10 47087582 47087582 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 47087582 47087582 C T SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known silent c.799 p.L267 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 162 0 0 77 14 15.3846 SLC18A3 0 genome.wustl.edu 37 10 50819360 50819360 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 50819360 50819360 G A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.574 p.A192T 1.000 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 SLC18A3 HGNC ENSG00000187714 59 0 0 22 14 38.8889 SLC18A3 0 genome.wustl.edu 37 10 50819836 50819836 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 50819836 50819836 G A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known silent c.1050 p.A350 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 205 0 0 55 19 25.6757 AGAP6 0 genome.wustl.edu 37 10 51754188 51754188 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 51754188 51754188 A G SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.326 p.H109R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 90 0 0 59 4 6.34921 IL2RA 0 genome.wustl.edu 37 10 6063591 6063591 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 6063591 6063591 C A SNP IL2RA ENST00000379959 human ensembl 74_37 -1 known missense c.433 p.G145W 0.995 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 IL2RA HGNC ENSG00000134460 206 0 0 71 29 29 PRKCQ 0 genome.wustl.edu 37 10 6472782 6472782 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 6472782 6472782 C T SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1955 p.R652Q 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,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 128 0 0 51 14 21.5385 LRRTM3 0 genome.wustl.edu 37 10 68687864 68687864 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 68687864 68687864 C T SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.1190 p.P397L 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 106 0 0 36 25 40.9836 SGPL1 0 genome.wustl.edu 37 10 72636413 72636413 + Nonsense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 72636413 72636413 G T SNP SGPL1 ENST00000373202 human ensembl 74_37 +1 known nonsense c.1561 p.G521* 1.000 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SGPL1 HGNC ENSG00000166224 206 0 0 71 33 31.7308 SFMBT2 0 genome.wustl.edu 37 10 7269822 7269822 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 7269822 7269822 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known nonsense c.1198 p.R400* 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 126 0 0 51 27 34.6154 UNC5B 0 genome.wustl.edu 37 10 73047450 73047450 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 73047450 73047450 G A SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.829 p.A277T 0.554 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 189 1 0.526316 41 19 31.6667 CDH23 0 genome.wustl.edu 37 10 73537990 73537990 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 73537990 73537990 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative silent c.5127 p.H1709 0.864 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 134 0 0 35 13 27.0833 PPP3CB 0 genome.wustl.edu 37 10 75239252 75239252 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 75239252 75239252 G A SNP PPP3CB ENST00000394829 human ensembl 74_37 -1 known missense c.109 p.R37C 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 130 0 0 86 23 21.1009 USP54 0 genome.wustl.edu 37 10 75276308 75276308 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 75276308 75276308 C T SNP USP54 ENST00000339859 human ensembl 74_37 -1 known silent c.3876 p.T1292 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 188 0 0 74 31 29.5238 SYNPO2L 0 genome.wustl.edu 37 10 75407549 75407549 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 75407549 75407549 T C SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.1861 p.T621A 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 233 0 0 59 27 31.3953 DUSP13 0 genome.wustl.edu 37 10 76855437 76855437 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 76855437 76855437 A G SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.677 p.L226P 0.989 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_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 359 0 0 103 40 27.972 DLG5 0 genome.wustl.edu 37 10 79579711 79579711 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 79579711 79579711 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known silent c.3468 p.S1156 0.019 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 224 0 0 75 28 27.1845 DYDC2 0 genome.wustl.edu 37 10 82122250 82122250 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 82122250 82122250 A G SNP DYDC2 ENST00000372198 human ensembl 74_37 +1 known silent c.93 p.A31 0.877 pfam_Dpy-30_motif pfam_Dpy-30_motif - no_errors DYDC2 HGNC ENSG00000133665 99 0 0 42 16 27.5862 DYDC2 0 genome.wustl.edu 37 10 82126484 82126484 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 82126484 82126484 T G SNP DYDC2 ENST00000372198 human ensembl 74_37 +1 known missense c.353 p.F118C 0.003 NULL pfam_Dpy-30_motif - no_errors DYDC2 HGNC ENSG00000133665 262 0 0 125 39 23.7805 CCSER2 0 genome.wustl.edu 37 10 86132141 86132141 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 86132141 86132141 C T SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known missense c.1333 p.P445S 0.288 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 235 0 0 73 59 44.697 GRID1 0 genome.wustl.edu 37 10 87406989 87406989 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 87406989 87406989 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.2163 p.C721 0.013 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 527 0 0 167 69 29.2373 SNCG 0 genome.wustl.edu 37 10 88718411 88718411 + RNA SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 88718411 88718411 C A SNP SNCG ENST00000465679 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors SNCG HGNC ENSG00000173267 58 0 0 11 6 35.2941 HTR7 0 genome.wustl.edu 37 10 92508761 92508761 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 92508761 92508761 G A SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known missense c.1130 p.S377F 1.000 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 308 0 0 97 40 29.1971 CYP26A1 0 genome.wustl.edu 37 10 94834167 94834167 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 94834167 94834167 C T SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.292 p.R98W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 491 0 0 148 27 15.4286 MYOF 0 genome.wustl.edu 37 10 95069859 95069859 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 95069859 95069859 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.6065 p.R2022H 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 120 0 0 44 18 29.0323 PLCE1 0 genome.wustl.edu 37 10 95791574 95791574 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 95791574 95791574 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.771 p.D257 0.010 superfamily_Ras_GEF_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 108 0 0 57 26 31.3253 HOGA1 0 genome.wustl.edu 37 10 99371277 99371277 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 99371277 99371277 G A SNP HOGA1 ENST00000370646 human ensembl 74_37 +1 known missense c.845 p.R282H 0.996 pfam_DapA-like pfam_DapA-like,prints_DapA-like - no_errors HOGA1 HGNC ENSG00000241935 141 0 0 36 16 30.7692 CASP5 0 genome.wustl.edu 37 11 104872817 104872817 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 104872817 104872817 T C SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.694 p.M232V 0.868 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 113 0 0 64 19 22.8916 KBTBD3 0 genome.wustl.edu 37 11 105924527 105924527 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 105924527 105924527 T C SNP KBTBD3 ENST00000526793 human ensembl 74_37 -1 known missense c.889 p.I297V 1.000 pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 119 0 0 59 27 31.3953 CUL5 0 genome.wustl.edu 37 11 107917010 107917010 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 107917010 107917010 G T SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known missense c.148 p.V50F 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 111 0 0 55 8 12.6984 SIK2 0 genome.wustl.edu 37 11 111594498 111594498 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 111594498 111594498 G A SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.2426 p.R809Q 0.004 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 416 0 0 105 43 29.0541 BCO2 0 genome.wustl.edu 37 11 112064635 112064635 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 112064635 112064635 G A SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.551 p.R184Q 0.095 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 162 0 0 76 25 24.7525 NCAM1 0 genome.wustl.edu 37 11 113105886 113105886 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 113105886 113105886 C T SNP NCAM1 ENST00000533760 human ensembl 74_37 +1 novel nonsense c.1441 p.Q481* 1.000 pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 57 0 0 21 8 27.5862 ATF4P4 0 genome.wustl.edu 37 11 113660920 113660920 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 113660920 113660920 G A SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors ATF4P4 HGNC ENSG00000256167 8 0 0 3 3 50 USP2 0 genome.wustl.edu 37 11 119230349 119230349 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 119230349 119230349 G A SNP USP2 ENST00000260187 human ensembl 74_37 -1 known nonsense c.847 p.Q283* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 102 0 0 35 15 30 TRIM29 0 genome.wustl.edu 37 11 120008124 120008124 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 120008124 120008124 C T SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.616 p.A206T 0.582 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 76 0 0 26 10 27.7778 TECTA 0 genome.wustl.edu 37 11 120980130 120980130 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 120980130 120980130 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.409 p.A137T 0.967 smart_Nidogen_extracell_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 94 0 0 45 18 28.5714 SORL1 0 genome.wustl.edu 37 11 121393349 121393349 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 121393349 121393349 C A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.1459 p.L487I 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 295 0 0 99 44 30.7692 MICAL2 0 genome.wustl.edu 37 11 12246337 12246337 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 12246337 12246337 C T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.1658 p.A553V 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 86 0 0 28 17 37.7778 MICALCL 0 genome.wustl.edu 37 11 12315180 12315180 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 12315180 12315180 C G SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.202 p.R68G 0.003 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 481 1 0.207469 192 40 17.2414 ROBO3 0 genome.wustl.edu 37 11 124742441 124742441 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 124742441 124742441 A C SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known silent c.1323 p.I441 0.994 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 93 0 0 31 11 26.1905 VPS26B 0 genome.wustl.edu 37 11 134109914 134109914 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 134109914 134109914 G A SNP VPS26B ENST00000281187 human ensembl 74_37 +1 known missense c.410 p.R137H 1.000 pfam_VPS26,superfamily_Ig_E-set pfam_VPS26,superfamily_Ig_E-set - no_errors VPS26B HGNC ENSG00000151502 105 0 0 47 17 26.5625 NAV2 0 genome.wustl.edu 37 11 20099098 20099098 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 20099098 20099098 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.5152 p.A1718T 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 70 0 0 48 16 25 DBX1 0 genome.wustl.edu 37 11 20177883 20177883 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 20177883 20177883 C A SNP DBX1 ENST00000227256 human ensembl 74_37 -1 known silent c.1026 p.P342 0.303 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DBX1 HGNC ENSG00000109851 108 0 0 44 22 33.3333 NLRP6 0 genome.wustl.edu 37 11 281325 281325 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 281325 281325 C T SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known missense c.1591 p.R531C 0.019 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 NLRP6 HGNC ENSG00000174885 51 0 0 20 9 31.0345 ARL14EP 0 genome.wustl.edu 37 11 30358285 30358285 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 30358285 30358285 G A SNP ARL14EP ENST00000282032 human ensembl 74_37 +1 known silent c.726 p.L242 0.001 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 172 0 0 81 40 33.0579 TRAF6 0 genome.wustl.edu 37 11 36520186 36520186 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 36520186 36520186 C T SNP TRAF6 ENST00000348124 human ensembl 74_37 -1 known missense c.301 p.A101T 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_RING pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 82 0 0 36 13 26.5306 OR51D1 0 genome.wustl.edu 37 11 4661386 4661386 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 4661386 4661386 C T SNP OR51D1 ENST00000357605 human ensembl 74_37 +1 known silent c.366 p.A122 0.999 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 OR51D1 HGNC ENSG00000197428 86 0 0 42 16 27.5862 PACSIN3 0 genome.wustl.edu 37 11 47201865 47201865 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 47201865 47201865 C T SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known missense c.475 p.A159T 0.002 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 176 0 0 54 9 14.2857 PTPMT1 0 genome.wustl.edu 37 11 47593071 47593071 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 47593071 47593071 C T SNP PTPMT1 ENST00000326674 human ensembl 74_37 +1 novel missense c.496 p.R166W 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPMT1 HGNC ENSG00000110536 165 0 0 58 26 30.9524 OR4B1 0 genome.wustl.edu 37 11 48239199 48239199 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 48239199 48239199 C T SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known silent c.838 p.L280 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4B1 HGNC ENSG00000175619 174 0 0 72 17 19.1011 OR4C13 0 genome.wustl.edu 37 11 49974661 49974661 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 49974661 49974661 G T SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.687 p.E229D 0.323 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 158 0 0 94 41 30.3704 OR51Q1 0 genome.wustl.edu 37 11 5443929 5443929 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 5443929 5443929 C T SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known nonsense c.499 p.R167* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 330 1 0.302115 151 36 19.2513 OR5F1 0 genome.wustl.edu 37 11 55762042 55762042 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 55762042 55762042 C T SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known silent c.60 p.T20 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 164 0 0 64 14 17.9487 OR5AP2 0 genome.wustl.edu 37 11 56409703 56409703 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 56409703 56409703 G T SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.216 p.S72R 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 113 0 0 45 20 30.7692 P2RX3 0 genome.wustl.edu 37 11 57118321 57118321 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 57118321 57118321 G A SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known missense c.791 p.R264Q 0.997 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 133 0 0 39 24 38.0952 SMTNL1 0 genome.wustl.edu 37 11 57314092 57314092 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 57314092 57314092 G A SNP SMTNL1 ENST00000457912 human ensembl 74_37 +1 known missense c.1361 p.R454Q 0.300 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 72 0 0 23 11 32.3529 OR9I1 0 genome.wustl.edu 37 11 57886281 57886281 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 57886281 57886281 G A SNP OR9I1 ENST00000302610 human ensembl 74_37 -1 known silent c.636 p.S212 0.050 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR9I1 HGNC ENSG00000172377 92 0 0 50 3 5.66038 OR52N2 0 genome.wustl.edu 37 11 5842064 5842064 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 5842064 5842064 C T SNP OR52N2 ENST00000317037 human ensembl 74_37 +1 known missense c.499 p.R167C 0.047 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N2 HGNC ENSG00000180988 191 0 0 110 38 25.6757 GLYATL1 0 genome.wustl.edu 37 11 58714625 58714625 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 58714625 58714625 C A SNP GLYATL1 ENST00000317391 human ensembl 74_37 +1 known missense c.65 p.P22H 0.021 pfam_Glycine_N-acyltransferase_N pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 75 0 0 34 12 26.087 PRPF19 0 genome.wustl.edu 37 11 60666067 60666067 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 60666067 60666067 T C SNP PRPF19 ENST00000227524 human ensembl 74_37 -1 known silent c.1086 p.G362 0.982 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 157 0 0 45 17 27.4194 DAK 0 genome.wustl.edu 37 11 61110303 61110303 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 61110303 61110303 C T SNP DAK ENST00000394900 human ensembl 74_37 +1 known silent c.852 p.T284 0.113 pfam_Dak1,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 83 0 0 24 13 35.1351 SYT7 0 genome.wustl.edu 37 11 61290643 61290643 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 61290643 61290643 G A SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known silent c.1011 p.F337 0.998 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 SYT7 HGNC ENSG00000011347 233 0 0 72 26 26.5306 FADS2 0 genome.wustl.edu 37 11 61624930 61624930 + Silent SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 61624930 61624930 G C SNP FADS2 ENST00000278840 human ensembl 74_37 +1 known silent c.810 p.G270 0.997 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS2 HGNC ENSG00000134824 149 0 0 42 21 33.3333 TAF6L 0 genome.wustl.edu 37 11 62554088 62554088 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 62554088 62554088 T C SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.1189 p.W397R 0.986 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 64 0 0 9 7 43.75 SLC22A10 0 genome.wustl.edu 37 11 63072184 63072184 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 63072184 63072184 C T SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known missense c.1421 p.T474M 0.001 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 196 1 0.507614 86 32 27.1186 TRPT1 0 genome.wustl.edu 37 11 63992155 63992155 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 63992155 63992155 G A SNP TRPT1 ENST00000394546 human ensembl 74_37 -1 known missense c.368 p.P123L 0.418 pfam_Ptrans_KptA/Tpt1 pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC ENSG00000149743 141 0 0 39 7 15.2174 SLC22A12 0 genome.wustl.edu 37 11 64359362 64359362 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 64359362 64359362 G A SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.334 p.D112N 0.033 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 86 0 0 15 16 51.6129 CDC42EP2 0 genome.wustl.edu 37 11 65088566 65088566 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 65088566 65088566 C T SNP CDC42EP2 ENST00000279249 human ensembl 74_37 +1 known missense c.197 p.P66L 0.995 pfam_CRIB_dom,smart_CRIB_dom,pirsf_Cdc42_effector_prot_2 pfam_CRIB_dom,smart_CRIB_dom,pirsf_Cdc42_effector_prot_2,pfscan_CRIB_dom - no_errors CDC42EP2 HGNC ENSG00000149798 138 0 0 33 27 45 DNHD1 0 genome.wustl.edu 37 11 6520071 6520071 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 6520071 6520071 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.626 p.A209V 0.002 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 232 0 0 52 33 38.8235 EHBP1L1 0 genome.wustl.edu 37 11 65348778 65348778 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 65348778 65348778 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.800 p.A267V 0.327 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 70 0 0 24 9 27.2727 SNX32 0 genome.wustl.edu 37 11 65617684 65617684 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 65617684 65617684 G A SNP SNX32 ENST00000308342 human ensembl 74_37 +1 known missense c.316 p.E106K 1.000 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 148 0 0 43 21 32.8125 CST6 0 genome.wustl.edu 37 11 65780823 65780823 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 65780823 65780823 C A SNP CST6 ENST00000312134 human ensembl 74_37 +1 known silent c.402 p.P134 0.998 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST6 HGNC ENSG00000175315 354 0 0 89 5 5.31915 SLC29A2 0 genome.wustl.edu 37 11 66131818 66131818 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 66131818 66131818 G A SNP SLC29A2 ENST00000311161 human ensembl 74_37 -1 novel missense c.1003 p.R335C 1.000 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 103 0 0 18 6 25 RRP8 0 genome.wustl.edu 37 11 6622758 6622758 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 6622758 6622758 G A SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known missense c.538 p.P180S 0.001 NULL pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 234 0 0 78 17 17.8947 ADRBK1 0 genome.wustl.edu 37 11 67051203 67051203 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 67051203 67051203 T C SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.1354 p.F452L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 238 0 0 45 18 28.5714 CABP4 0 genome.wustl.edu 37 11 67223594 67223594 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 67223594 67223594 A G SNP CABP4 ENST00000545777 human ensembl 74_37 +1 known missense c.370 p.M124V 0.000 NULL NULL - no_errors CABP4 HGNC ENSG00000175544 103 0 0 33 10 23.2558 ARAP1 0 genome.wustl.edu 37 11 72408052 72408052 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 72408052 72408052 G A SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.3142 p.R1048C 0.532 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 60 0 0 15 9 37.5 SYT9 0 genome.wustl.edu 37 11 7324372 7324372 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 7324372 7324372 G A SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known missense c.248 p.R83Q 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 182 0 0 75 36 32.4324 KCTD14 0 genome.wustl.edu 37 11 77728068 77728068 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 77728068 77728068 G A SNP KCTD14 ENST00000353172 human ensembl 74_37 -1 known silent c.339 p.Y113 0.782 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD14 HGNC ENSG00000151364 85 0 0 34 14 29.1667 TENM4 0 genome.wustl.edu 37 11 78440668 78440668 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 78440668 78440668 A G SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.3159 p.S1053 0.003 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 203 0 0 52 27 34.1772 OR5P3 0 genome.wustl.edu 37 11 7847414 7847414 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 7847414 7847414 C T SNP OR5P3 ENST00000328375 human ensembl 74_37 -1 known missense c.106 p.V36I 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 149 0 0 66 22 25 CEND1 0 genome.wustl.edu 37 11 788426 788426 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 788426 788426 G A SNP CEND1 ENST00000330106 human ensembl 74_37 -1 known missense c.151 p.P51S 1.000 NULL NULL - no_errors CEND1 HGNC ENSG00000184524 262 0 0 50 22 30.5556 PNPLA2 0 genome.wustl.edu 37 11 824058 824058 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 824058 824058 C A SNP PNPLA2 ENST00000336615 human ensembl 74_37 +1 known missense c.980 p.P327H 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA2 HGNC ENSG00000177666 43 0 0 3 5 62.5 PCF11 0 genome.wustl.edu 37 11 82879875 82879875 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 82879875 82879875 G A SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.2498 p.R833Q 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 79 0 0 30 10 25 FZD4 0 genome.wustl.edu 37 11 86662733 86662733 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 86662733 86662733 G A SNP FZD4 ENST00000531380 human ensembl 74_37 -1 known silent c.1065 p.P355 0.031 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 FZD4 HGNC ENSG00000174804 130 0 0 50 18 26.4706 ST5 0 genome.wustl.edu 37 11 8752691 8752691 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 8752691 8752691 T A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.146 p.D49V 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 49 0 0 14 5 26.3158 CCDC67 0 genome.wustl.edu 37 11 93088580 93088580 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 93088580 93088580 A G SNP CCDC67 ENST00000298050 human ensembl 74_37 +1 known missense c.73 p.I25V 1.000 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 129 0 0 79 5 5.95238 FOLR4 0 genome.wustl.edu 37 11 94040602 94040602 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 94040602 94040602 G T SNP FOLR4 ENST00000440961 human ensembl 74_37 +1 novel missense c.476 p.C159F 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR4 HGNC ENSG00000183560 80 0 0 37 23 38.3333 STAB2 0 genome.wustl.edu 37 12 104015889 104015889 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 104015889 104015889 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.487 p.V163L 0.998 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 93 0 0 41 19 31.6667 STAB2 0 genome.wustl.edu 37 12 104121068 104121068 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 104121068 104121068 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known silent c.4875 p.V1625 0.000 pfam_FAS1_domain,superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 450 1 0.221729 145 61 29.6117 PRDM4 0 genome.wustl.edu 37 12 108128295 108128295 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 108128295 108128295 G A SNP PRDM4 ENST00000228437 human ensembl 74_37 -1 known missense c.2098 p.R700C 1.000 pirsf_Znf_PRDM4,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM4 HGNC ENSG00000110851 204 0 0 106 43 28.8591 PRDM4 0 genome.wustl.edu 37 12 108134747 108134747 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 108134747 108134747 G A SNP PRDM4 ENST00000228437 human ensembl 74_37 -1 known missense c.1900 p.R634W 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM4 HGNC ENSG00000110851 178 0 0 63 25 28.4091 TAS2R10 0 genome.wustl.edu 37 12 10978047 10978047 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 10978047 10978047 T G SNP TAS2R10 ENST00000240619 human ensembl 74_37 -1 known silent c.822 p.S274 0.088 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 127 0 0 80 29 26.6055 PRH1 0 genome.wustl.edu 37 12 11034940 11034940 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 11034940 11034940 C G SNP PRH1 ENST00000428168 human ensembl 74_37 -1 known missense c.395 p.G132A 0.009 NULL NULL - no_errors PRH1 HGNC ENSG00000231887 134 0 0 69 24 25.8065 TAS2R14 0 genome.wustl.edu 37 12 11091290 11091290 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 11091290 11091290 T C SNP TAS2R14 ENST00000537503 human ensembl 74_37 -1 known missense c.517 p.T173A 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R14 HGNC ENSG00000212127 145 0 0 68 37 35.2381 SH2B3 0 genome.wustl.edu 37 12 111884789 111884789 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 111884789 111884789 A G SNP SH2B3 ENST00000341259 human ensembl 74_37 +1 putative missense c.878 p.Q293R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Phe_ZIP,pfam_SH2,pfam_Pleckstrin_homology,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B3 HGNC ENSG00000111252 104 0 0 37 15 28.8462 ACAD10 0 genome.wustl.edu 37 12 112186136 112186136 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 112186136 112186136 G A SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.2594 p.R865H 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 239 0 0 92 26 22.0339 HECTD4 0 genome.wustl.edu 37 12 112650376 112650376 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 112650376 112650376 T C SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.7028 p.Y2343C 1.000 superfamily_ConA-like_lec_gl_sf pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 157 0 0 39 34 46.5753 SRRM4 0 genome.wustl.edu 37 12 119594447 119594447 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 119594447 119594447 A C SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.1680 p.R560S 0.001 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 18 0 0 8 5 38.4615 CIT 0 genome.wustl.edu 37 12 120208707 120208707 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 120208707 120208707 C T SNP CIT ENST00000392521 human ensembl 74_37 -1 novel missense c.2090 p.R697H 1.000 pirsf_Citron_Rho-interacting_kinase,prints_Tropomyosin 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,prints_Tropomyosin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 171 0 0 66 25 27.4725 RNF10 0 genome.wustl.edu 37 12 121002881 121002881 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 121002881 121002881 C T SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known nonsense c.1687 p.R563* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 293 0 0 120 61 33.7017 SBNO1 0 genome.wustl.edu 37 12 123782547 123782547 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 123782547 123782547 C T SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known silent c.4017 p.T1339 0.769 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 266 0 0 82 28 25.4545 NCOR2 0 genome.wustl.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 124887093 124887093 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.1497 p.Q499 0.999 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 10 0 0 9 3 25 UBC 0 genome.wustl.edu 37 12 125397684 125397684 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 125397684 125397684 T C SNP UBC ENST00000339647 human ensembl 74_37 -1 known missense c.634 p.N212D 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBC HGNC ENSG00000150991 428 0 0 177 41 18.8073 RPL22P19 0 genome.wustl.edu 37 12 125420383 125420383 + RNA SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 125420383 125420383 T C SNP RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 9 0 0 2 6 75 ANKLE2 0 genome.wustl.edu 37 12 133331306 133331306 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 133331306 133331306 A G SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.595 p.Y199H 0.995 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 202 0 0 65 26 28.5714 WBP11 0 genome.wustl.edu 37 12 14944192 14944192 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 14944192 14944192 C T SNP WBP11 ENST00000261167 human ensembl 74_37 -1 known missense c.926 p.R309Q 1.000 NULL pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 75 0 0 36 14 28 C12orf60 0 genome.wustl.edu 37 12 14975984 14975984 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 14975984 14975984 C T SNP C12orf60 ENST00000330828 human ensembl 74_37 +1 known missense c.115 p.R39C 0.000 NULL NULL - no_errors C12orf60 HGNC ENSG00000182993 93 0 0 58 15 20.5479 CACNA2D4 0 genome.wustl.edu 37 12 1992068 1992068 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 1992068 1992068 C T SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.1450 p.D484N 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 52 0 0 16 4 20 PDE3A 0 genome.wustl.edu 37 12 20766597 20766597 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 20766597 20766597 A T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.1232 p.E411V 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 109 0 0 49 16 24.6154 SLCO1B1 0 genome.wustl.edu 37 12 21391984 21391984 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 21391984 21391984 C T SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.1937 p.A646V 0.010 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 90 0 0 38 10 20.8333 ABCC9 0 genome.wustl.edu 37 12 22035805 22035805 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 22035805 22035805 C A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.1914 p.Q638H 0.138 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 101 0 0 64 31 32.6316 IFLTD1 0 genome.wustl.edu 37 12 25671789 25671789 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 25671789 25671789 C T SNP IFLTD1 ENST00000458174 human ensembl 74_37 -1 known missense c.1129 p.A377T 0.000 NULL pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 210 0 0 80 30 27.2727 ARID2 0 genome.wustl.edu 37 12 46245344 46245344 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 46245344 46245344 G A SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known silent c.3438 p.S1146 0.811 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 176 0 0 69 27 28.125 KCNA1 0 genome.wustl.edu 37 12 5021641 5021641 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 5021641 5021641 C T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.1097 p.A366V 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 359 1 0.277778 193 35 15.3509 KCNA1 0 genome.wustl.edu 37 12 5021769 5021769 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 5021769 5021769 T A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.1225 p.S409T 1.000 prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 559 0 0 239 92 27.7946 AQP5 0 genome.wustl.edu 37 12 50358888 50358888 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 50358888 50358888 G A SNP AQP5 ENST00000293599 human ensembl 74_37 +1 known silent c.726 p.T242 0.226 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 144 0 0 33 17 34 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 152 0 0 17 36 67.9245 EIF4B 0 genome.wustl.edu 37 12 53413753 53413753 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 53413753 53413753 T C SNP EIF4B ENST00000262056 human ensembl 74_37 +1 known silent c.420 p.G140 0.985 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 71 0 0 35 11 23.913 ZBTB39 0 genome.wustl.edu 37 12 57398126 57398126 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 57398126 57398126 G A SNP ZBTB39 ENST00000300101 human ensembl 74_37 -1 known silent c.576 p.D192 0.041 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 336 0 0 100 51 33.7748 LRP1 0 genome.wustl.edu 37 12 57570998 57570998 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 57570998 57570998 C A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.4166 p.P1389Q 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 79 0 0 21 11 34.375 LRIG3 0 genome.wustl.edu 37 12 59272641 59272641 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 59272641 59272641 C T SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known missense c.2048 p.G683E 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 216 0 0 104 40 27.7778 GRIP1 0 genome.wustl.edu 37 12 66814553 66814553 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 66814553 66814553 T G SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.1785 p.K595N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 175 0 0 85 36 29.7521 CHD4 0 genome.wustl.edu 37 12 6687228 6687228 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 6687228 6687228 C A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.5279 p.R1760L 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 255 0 0 92 30 24.5902 CHD4 0 genome.wustl.edu 37 12 6692034 6692034 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 6692034 6692034 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.4300 p.R1434C 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 390 0 0 116 44 27.5 ACRBP 0 genome.wustl.edu 37 12 6749371 6749371 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 6749371 6749371 C T SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known missense c.1280 p.R427H 0.000 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 107 0 0 29 12 29.2683 PTPRB 0 genome.wustl.edu 37 12 70948972 70948972 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 70948972 70948972 T A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.5111 p.K1704I 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 119 0 0 28 17 37.7778 PTPRR 0 genome.wustl.edu 37 12 71286586 71286586 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 71286586 71286586 C T SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known missense c.230 p.R77H 0.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 270 0 0 132 47 26.257 TRHDE 0 genome.wustl.edu 37 12 72666679 72666679 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 72666679 72666679 G A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.121 p.V41M 0.990 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 14 0 0 1 4 80 CLSTN3 0 genome.wustl.edu 37 12 7303159 7303159 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 7303159 7303159 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known silent c.2265 p.V755 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 66 0 0 29 12 29.2683 GDF3 0 genome.wustl.edu 37 12 7842978 7842978 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 7842978 7842978 A T SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known missense c.591 p.N197K 0.006 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 175 0 0 62 21 25.3012 MYF6 0 genome.wustl.edu 37 12 81102715 81102715 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 81102715 81102715 C T SNP MYF6 ENST00000228641 human ensembl 74_37 +1 known silent c.705 p.C235 0.990 NULL pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 69 0 0 42 14 25 FAM155A 0 genome.wustl.edu 37 13 108518596 108518596 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 108518596 108518596 C T SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.349 p.A117T 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 19 0 0 8 9 52.9412 MCF2L 0 genome.wustl.edu 37 13 113740490 113740490 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 113740490 113740490 C T SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.2471 p.A824V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 88 0 0 38 8 17.3913 ATP4B 0 genome.wustl.edu 37 13 114312428 114312428 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 114312428 114312428 C T SNP ATP4B ENST00000335288 human ensembl 74_37 -1 known missense c.32 p.G11D 0.992 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 ATP4B HGNC ENSG00000186009 36 0 0 12 4 25 TMEM255B 0 genome.wustl.edu 37 13 114504642 114504642 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 114504642 114504642 G A SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.526 p.A176T 0.007 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 55 0 0 18 9 33.3333 MICU2 0 genome.wustl.edu 37 13 22141028 22141028 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 22141028 22141028 C T SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known missense c.266 p.R89H 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 48 0 0 14 8 36.3636 ATP12A 0 genome.wustl.edu 37 13 25265211 25265211 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 25265211 25265211 G A SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known silent c.909 p.T303 0.438 pfam_ATPase_P-typ_transduc_dom_A,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 ATP12A HGNC ENSG00000075673 172 0 0 47 27 36.4865 NUPL1 0 genome.wustl.edu 37 13 25882001 25882001 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 25882001 25882001 T C SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known silent c.165 p.T55 0.979 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 160 0 0 71 23 24.4681 MTUS2 0 genome.wustl.edu 37 13 29855999 29855999 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 29855999 29855999 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2833 p.A945T 0.912 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 147 1 0.675676 47 21 30.8824 ENOX1 0 genome.wustl.edu 37 13 43930092 43930092 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 43930092 43930092 C T SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known silent c.786 p.S262 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 434 0 0 126 46 26.7442 SLC25A30 0 genome.wustl.edu 37 13 45983139 45983139 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 45983139 45983139 C A SNP SLC25A30 ENST00000519676 human ensembl 74_37 -1 known missense c.135 p.K45N 0.981 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors SLC25A30 HGNC ENSG00000174032 153 0 0 73 6 7.59494 EBPL 0 genome.wustl.edu 37 13 50235160 50235160 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 50235160 50235160 G C SNP EBPL ENST00000242827 human ensembl 74_37 -1 known missense c.565 p.L189V 0.264 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000123179 97 0 0 51 5 8.92857 PCDH8 0 genome.wustl.edu 37 13 53422116 53422116 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 53422116 53422116 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.456 p.T152 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 59 0 0 29 6 17.1429 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 22 0 0 3 8 72.7273 SLITRK5 0 genome.wustl.edu 37 13 88330333 88330333 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 88330333 88330333 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2690 p.R897H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 172 0 0 77 34 30.6306 SLC15A1 0 genome.wustl.edu 37 13 99338492 99338492 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 99338492 99338492 G A SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known silent c.1887 p.G629 0.992 superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 59 0 0 18 2 10 HHIPL1 0 genome.wustl.edu 37 14 100119154 100119154 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 100119154 100119154 C T SNP HHIPL1 ENST00000330710 human ensembl 74_37 +1 known silent c.849 p.S283 0.990 superfamily_Quinoprot_gluc/sorb_DH pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors HHIPL1 HGNC ENSG00000182218 91 0 0 19 16 45.7143 MIR299 0 genome.wustl.edu 37 14 101490146 101490146 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 101490146 101490146 G A SNP MIR299 ENST00000385016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR299 HGNC ENSG00000207749 91 0 0 29 25 46.2963 MIR487A 0 genome.wustl.edu 37 14 101518829 101518829 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 101518829 101518829 C T SNP MIR487A ENST00000384827 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR487A HGNC ENSG00000207558 57 0 0 30 9 23.0769 AHNAK2 0 genome.wustl.edu 37 14 105418203 105418203 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 105418203 105418203 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.3585 p.A1195 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 540 0 0 164 49 23.0047 TEP1 0 genome.wustl.edu 37 14 20842664 20842664 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 20842664 20842664 A G SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.6395 p.L2132P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 47 0 0 19 12 38.7097 METTL17 0 genome.wustl.edu 37 14 21464375 21464375 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 21464375 21464375 A G SNP METTL17 ENST00000382985 human ensembl 74_37 +1 known missense c.1004 p.H335R 1.000 pfam_Ribosomal_Rsm22_bac-type pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 569 0 0 229 44 16.1172 SUPT16H 0 genome.wustl.edu 37 14 21833073 21833073 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 21833073 21833073 T C SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known silent c.1146 p.G382 0.938 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 106 0 0 49 12 19.6721 PRMT5 0 genome.wustl.edu 37 14 23392040 23392040 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 23392040 23392040 T C SNP PRMT5 ENST00000324366 human ensembl 74_37 -1 known missense c.1490 p.Q497R 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 56 0 0 13 11 45.8333 MYH6 0 genome.wustl.edu 37 14 23866189 23866189 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 23866189 23866189 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.2151 p.Y717 0.983 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,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 128 0 0 35 10 22.2222 ENSG00000258727 0 genome.wustl.edu 37 14 24034752 24034752 + RNA SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 24034752 24034752 G C SNP ENSG00000258727 ENST00000555968 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 27 0 0 15 8 34.7826 LRRC16B 0 genome.wustl.edu 37 14 24534215 24534215 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 24534215 24534215 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.3129 p.P1043 0.973 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 330 0 0 73 42 36.5217 RNF31 0 genome.wustl.edu 37 14 24619997 24619997 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 24619997 24619997 G A SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.1388 p.R463Q 0.000 NULL 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 162 1 0.613497 39 24 38.0952 CTSG 0 genome.wustl.edu 37 14 25042973 25042973 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 25042973 25042973 C G SNP CTSG ENST00000216336 human ensembl 74_37 -1 known missense c.638 p.G213A 0.996 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 CTSG HGNC ENSG00000100448 285 0 0 94 41 30.3704 MIA2 0 genome.wustl.edu 37 14 39722040 39722040 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 39722040 39722040 G A SNP MIA2 ENST00000280082 human ensembl 74_37 +1 novel silent c.1656 p.S552 0.024 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 104 0 0 54 22 28.9474 LRFN5 0 genome.wustl.edu 37 14 42356114 42356114 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 42356114 42356114 G A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.286 p.A96T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 85 0 0 47 29 38.1579 SOS2 0 genome.wustl.edu 37 14 50616749 50616749 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 50616749 50616749 T C SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known silent c.2361 p.T787 0.879 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 223 1 0.446429 99 54 35.2941 BMP4 0 genome.wustl.edu 37 14 54417102 54417102 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 54417102 54417102 C T SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known missense c.875 p.R292H 0.996 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 69 0 0 35 13 27.0833 NAA30 0 genome.wustl.edu 37 14 57863536 57863536 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 57863536 57863536 C T SNP NAA30 ENST00000556492 human ensembl 74_37 +1 known missense c.838 p.R280C 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 126 0 0 65 24 26.9663 PCNXL4 0 genome.wustl.edu 37 14 60582091 60582091 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 60582091 60582091 G A SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known silent c.1269 p.P423 0.911 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 320 0 0 122 44 26.506 TRMT5 0 genome.wustl.edu 37 14 61446378 61446378 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 61446378 61446378 G A SNP TRMT5 ENST00000261249 human ensembl 74_37 -1 known nonsense c.238 p.R80* 1.000 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 285 0 0 181 50 21.645 SYT16 0 genome.wustl.edu 37 14 62567283 62567283 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 62567283 62567283 G A SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1796 p.R599H 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 SYT16 HGNC ENSG00000139973 46 0 0 18 10 35.7143 SYNE2 0 genome.wustl.edu 37 14 64469920 64469920 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 64469920 64469920 T G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.4269 p.T1423 0.001 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 92 0 0 65 27 29.3478 GPHN 0 genome.wustl.edu 37 14 67578617 67578617 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 67578617 67578617 C T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.1453 p.R485W 1.000 pfam_MoeA_linker/N,superfamily_MoeA_linker/N pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 67 0 0 31 13 29.5455 PAPLN 0 genome.wustl.edu 37 14 73718836 73718836 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 73718836 73718836 G A SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known silent c.954 p.A318 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 23 0 0 7 5 41.6667 HEATR4 0 genome.wustl.edu 37 14 73989272 73989272 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 73989272 73989272 A G SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known silent c.585 p.P195 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 57 0 0 32 7 17.9487 VRTN 0 genome.wustl.edu 37 14 74823805 74823805 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 74823805 74823805 C T SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.319 p.R107C 0.966 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 41 0 0 23 7 23.3333 LTBP2 0 genome.wustl.edu 37 14 74978021 74978021 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 74978021 74978021 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.2955 p.C985 0.999 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 238 0 0 70 30 30 ALKBH1 0 genome.wustl.edu 37 14 78146294 78146294 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 78146294 78146294 G A SNP ALKBH1 ENST00000216489 human ensembl 74_37 -1 known missense c.475 p.R159W 0.962 tigrfam_Alkb tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 122 0 0 44 22 33.3333 STON2 0 genome.wustl.edu 37 14 81743821 81743821 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 81743821 81743821 G A SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.1834 p.R612C 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 132 0 0 34 17 33.3333 FOXN3 0 genome.wustl.edu 37 14 89628970 89628970 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 89628970 89628970 G A SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known missense c.1261 p.R421C 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 192 0 0 48 17 26.1538 CCDC88C 0 genome.wustl.edu 37 14 91787575 91787575 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 91787575 91787575 A G SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.1416 p.N472 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 26 0 0 12 6 33.3333 ATXN3 0 genome.wustl.edu 37 14 92560113 92560113 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 92560113 92560113 A G SNP ATXN3 ENST00000556374 human ensembl 74_37 -1 known missense c.316 p.S106P 1.000 pfam_Josephin,pfscan_Josephin pfam_Josephin,pfscan_Josephin,prints_Josephin - no_errors ATXN3 HGNC ENSG00000066427 171 0 0 58 33 36.2637 UNC79 0 genome.wustl.edu 37 14 94044213 94044213 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 94044213 94044213 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.2237 p.R746Q 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 388 0 0 124 58 31.8681 BCL11B 0 genome.wustl.edu 37 14 99641438 99641438 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 99641438 99641438 C T SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.1735 p.A579T 0.105 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 30 0 0 19 8 29.6296 TM2D3 0 genome.wustl.edu 37 15 102182749 102182749 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 102182749 102182749 G A SNP TM2D3 ENST00000333202 human ensembl 74_37 -1 known missense c.677 p.T226M 1.000 pfam_TM2 pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 168 0 0 52 24 31.5789 HERC2P3 0 genome.wustl.edu 37 15 20645859 20645859 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 20645859 20645859 C T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors HERC2P3 HGNC ENSG00000180229 91 0 0 33 6 15.3846 HERC2P3 0 genome.wustl.edu 37 15 20649487 20649487 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 20649487 20649487 G A SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 218 0 0 125 20 13.7931 HERC2P3 0 genome.wustl.edu 37 15 20651117 20651117 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 20651117 20651117 C T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 30 0 0 20 16 44.4444 ENSG00000259455 0 genome.wustl.edu 37 15 23412237 23412237 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 23412237 23412237 T C SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel missense c.220 p.T74A 0.001 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 63 0 0 30 4 11.7647 GOLGA8S 0 genome.wustl.edu 37 15 23609584 23609584 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 23609584 23609584 G A SNP GOLGA8S ENST00000562295 human ensembl 74_37 +1 novel missense c.1442 p.C481Y 1.000 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 131 0 0 42 14 25 MAGEL2 0 genome.wustl.edu 37 15 23890708 23890708 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 23890708 23890708 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.373 p.R125C 0.007 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 52 0 0 10 8 44.4444 OCA2 0 genome.wustl.edu 37 15 28273201 28273201 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 28273201 28273201 G A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.331 p.R111W 0.001 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 175 0 0 45 20 30.7692 OTUD7A 0 genome.wustl.edu 37 15 31822980 31822980 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 31822980 31822980 C T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known silent c.582 p.T194 0.016 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 72 0 0 50 13 20.6349 OTUD7A 0 genome.wustl.edu 37 15 31823008 31823008 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 31823008 31823008 C T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.554 p.R185H 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 51 0 0 33 9 21.4286 GJD2 0 genome.wustl.edu 37 15 35044979 35044979 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 35044979 35044979 G A SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known silent c.666 p.G222 0.991 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 78 0 0 35 17 32.6923 SPRED1 0 genome.wustl.edu 37 15 38643327 38643327 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 38643327 38643327 T C SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.797 p.M266T 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 129 0 0 61 27 30.6818 BUB1B 0 genome.wustl.edu 37 15 40468681 40468681 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 40468681 40468681 C T SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.430 p.R144C 0.864 pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 84 0 0 51 14 21.5385 MGA 0 genome.wustl.edu 37 15 42032360 42032360 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 42032360 42032360 G T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.4544 p.G1515V 1.000 NULL 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 112 0 0 30 17 36.1702 SPTBN5 0 genome.wustl.edu 37 15 42167792 42167792 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 42167792 42167792 G T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.4151 p.P1384H 0.014 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 22 0 0 6 5 45.4545 LOC101928414 0 genome.wustl.edu 37 15 45557006 45557006 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 45557006 45557006 C T SNP LOC101928414 ENST00000561404 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2651B20.3 Clone_based_vega_gene ENSG00000259520 61 0 0 36 12 25 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 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 120 0 0 33 26 44.0678 ONECUT1 0 genome.wustl.edu 37 15 53049694 53049694 + RNA SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 53049694 53049694 T A SNP ONECUT1 ENST00000561401 human ensembl 74_37 -1 putative rna NULL NULL 0.067 - - - no_errors ONECUT1 HGNC ENSG00000169856 103 0 0 37 17 31.4815 NOX5 0 genome.wustl.edu 37 15 69335034 69335034 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 69335034 69335034 C A SNP NOX5 ENST00000525143 human ensembl 74_37 +1 known missense c.803 p.A268D 0.904 NULL pfam_Fe3_Rdtase_TM_dom - no_errors NOX5 HGNC ENSG00000255346 98 0 0 29 12 29.2683 MYO9A 0 genome.wustl.edu 37 15 72146864 72146864 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 72146864 72146864 C T SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.6413 p.R2138H 1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 147 1 0.675676 91 25 21.5517 PML 0 genome.wustl.edu 37 15 74325013 74325013 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 74325013 74325013 T C SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.1355 p.V452A 0.299 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 79 0 0 28 12 30 ADAMTS7 0 genome.wustl.edu 37 15 79059752 79059752 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 79059752 79059752 G A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.2828 p.P943L 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 79 0 0 21 7 25 ADAMTS7 0 genome.wustl.edu 37 15 79089073 79089073 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 79089073 79089073 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.678 p.R226 0.001 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 174 0 0 43 12 21.8182 ADAMTS7 0 genome.wustl.edu 37 15 79090417 79090417 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 79090417 79090417 A G SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.495 p.I165 0.847 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 204 0 0 42 19 31.1475 ARNT2 0 genome.wustl.edu 37 15 80885987 80885987 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 80885987 80885987 A G SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.2102 p.Y701C 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 17 0 0 3 2 40 MESP2 0 genome.wustl.edu 37 15 90320225 90320225 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 90320225 90320225 G A SNP MESP2 ENST00000341735 human ensembl 74_37 +1 known missense c.637 p.A213T 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MESP2 HGNC ENSG00000188095 21 0 0 7 3 30 GDPGP1 0 genome.wustl.edu 37 15 90785087 90785087 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 90785087 90785087 G A SNP GDPGP1 ENST00000329600 human ensembl 74_37 +1 known missense c.947 p.R316Q 1.000 NULL NULL - no_errors GDPGP1 HGNC ENSG00000183208 139 0 0 60 35 36.8421 ENSG00000228998 0 genome.wustl.edu 37 15 90818403 90818403 + RNA SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 90818403 90818403 C A SNP ENSG00000228998 ENST00000411845 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-697E2.7 Clone_based_vega_gene ENSG00000228998 88 0 0 13 6 31.5789 IGF1R 0 genome.wustl.edu 37 15 99452112 99452112 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 99452112 99452112 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.1446 p.N482 0.353 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 50 0 0 16 5 23.8095 TNP2 0 genome.wustl.edu 37 16 11362819 11362819 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 11362819 11362819 G A SNP TNP2 ENST00000312693 human ensembl 74_37 -1 known missense c.301 p.R101C 0.025 pfam_TP2 pfam_TP2 - no_errors TNP2 HGNC ENSG00000178279 126 0 0 44 15 25.4237 CLCN7 0 genome.wustl.edu 37 16 1524892 1524892 + Silent SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 1524892 1524892 C G SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known silent c.84 p.A28 0.126 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 8 0 0 4 2 33.3333 TELO2 0 genome.wustl.edu 37 16 1556490 1556490 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 1556490 1556490 G A SNP TELO2 ENST00000564507 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TELO2 HGNC ENSG00000100726 16 0 0 8 7 46.6667 NOMO3 0 genome.wustl.edu 37 16 16364028 16364028 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 16364028 16364028 T C SNP NOMO3 ENST00000399336 human ensembl 74_37 +1 known missense c.1945 p.Y649H 1.000 NULL pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO3 HGNC ENSG00000103226 62 0 0 15 20 57.1429 UMOD 0 genome.wustl.edu 37 16 20359631 20359631 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 20359631 20359631 G A SNP UMOD ENST00000424589 human ensembl 74_37 -1 known missense c.986 p.T329M 0.496 NULL pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 260 2 0.763359 96 35 26.7176 PKD1 0 genome.wustl.edu 37 16 2140034 2140034 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 2140034 2140034 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.12606 p.G4202 0.696 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 40 0 0 10 4 28.5714 CASKIN1 0 genome.wustl.edu 37 16 2229836 2229836 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 2229836 2229836 C T SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.3533 p.R1178H 0.997 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 39 0 0 3 3 50 POLR3E 0 genome.wustl.edu 37 16 22339833 22339833 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 22339833 22339833 T C SNP POLR3E ENST00000299853 human ensembl 74_37 +1 known silent c.1869 p.F623 1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 129 0 0 49 3 5.76923 MLST8 0 genome.wustl.edu 37 16 2256622 2256622 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 2256622 2256622 G A SNP MLST8 ENST00000397124 human ensembl 74_37 +1 known silent c.306 p.T102 0.973 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 MLST8 HGNC ENSG00000167965 495 1 0.201613 99 33 25 E4F1 0 genome.wustl.edu 37 16 2282763 2282763 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 2282763 2282763 G A SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known missense c.737 p.R246H 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 247 0 0 46 19 29.2308 ABCA17P 0 genome.wustl.edu 37 16 2436237 2436237 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 2436237 2436237 G A SNP ABCA17P ENST00000469908 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors ABCA17P HGNC ENSG00000238098 117 0 0 30 15 33.3333 RBBP6 0 genome.wustl.edu 37 16 24581781 24581781 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 24581781 24581781 G A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.3770 p.G1257E 0.966 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 124 0 0 38 12 24 CORO1A 0 genome.wustl.edu 37 16 30199821 30199821 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 30199821 30199821 G A SNP CORO1A ENST00000219150 human ensembl 74_37 +1 known missense c.1205 p.R402Q 1.000 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC ENSG00000102879 101 0 0 24 10 29.4118 ZNF689 0 genome.wustl.edu 37 16 30616471 30616471 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 30616471 30616471 A G SNP ZNF689 ENST00000287461 human ensembl 74_37 -1 known missense c.617 p.V206A 0.720 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 ZNF689 HGNC ENSG00000156853 158 0 0 58 16 21.6216 SETD1A 0 genome.wustl.edu 37 16 30991144 30991144 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 30991144 30991144 C T SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.4037 p.A1346V 0.997 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 14 0 0 5 4 44.4444 ITGAD 0 genome.wustl.edu 37 16 31405644 31405644 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 31405644 31405644 T C SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.119 p.V40A 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 88 0 0 33 7 17.5 PDIA2 0 genome.wustl.edu 37 16 335551 335551 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 335551 335551 C T SNP PDIA2 ENST00000219406 human ensembl 74_37 +1 known silent c.967 p.L323 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase - no_errors PDIA2 HGNC ENSG00000185615 241 0 0 30 15 33.3333 TRAP1 0 genome.wustl.edu 37 16 3724480 3724480 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 3724480 3724480 C A SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.904 p.D302Y 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 66 0 0 31 2 6.06061 N4BP1 0 genome.wustl.edu 37 16 48595876 48595876 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 48595876 48595876 A G SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known silent c.678 p.S226 0.002 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 112 0 0 45 13 22.4138 SALL1 0 genome.wustl.edu 37 16 51173150 51173150 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 51173150 51173150 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.2983 p.R995W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 135 0 0 55 32 36.7816 RBL2 0 genome.wustl.edu 37 16 53524074 53524074 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 53524074 53524074 A C SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known silent c.3282 p.T1094 0.999 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 101 0 0 44 22 33.3333 CES1P1 0 genome.wustl.edu 37 16 55807419 55807419 + RNA SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 55807419 55807419 C A SNP CES1P1 ENST00000571348 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors CES1P1 HGNC ENSG00000228695 18 0 0 14 6 30 RSPRY1 0 genome.wustl.edu 37 16 57269043 57269043 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 57269043 57269043 C T SNP RSPRY1 ENST00000394420 human ensembl 74_37 +1 known missense c.1537 p.R513C 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC ENSG00000159579 70 0 0 27 12 30.7692 GPR97 0 genome.wustl.edu 37 16 57719834 57719834 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 57719834 57719834 G A SNP GPR97 ENST00000333493 human ensembl 74_37 +1 known silent c.1536 p.L512 0.615 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 206 0 0 56 31 35.6322 PRSS54 0 genome.wustl.edu 37 16 58324946 58324946 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 58324946 58324946 C A SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known missense c.180 p.Q60H 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 - no_errors PRSS54 HGNC ENSG00000103023 147 0 0 32 17 34.6939 SETD6 0 genome.wustl.edu 37 16 58549965 58549965 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 58549965 58549965 C T SNP SETD6 ENST00000219315 human ensembl 74_37 +1 known nonsense c.298 p.Q100* 0.989 pfam_SET_dom,pirsf_RuBisCo-cyt_methylase pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase - no_errors SETD6 HGNC ENSG00000103037 11 0 0 1 3 75 CDH8 0 genome.wustl.edu 37 16 61851566 61851566 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 61851566 61851566 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1094 p.R365H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 99 0 0 56 23 29.1139 KIAA0895L 0 genome.wustl.edu 37 16 67214240 67214240 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 67214240 67214240 G A SNP KIAA0895L ENST00000290881 human ensembl 74_37 -1 known missense c.274 p.R92W 0.002 NULL pfam_DUF1704 - no_errors KIAA0895L HGNC ENSG00000196123 54 0 0 18 9 33.3333 PLEKHG4 0 genome.wustl.edu 37 16 67321888 67321888 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 67321888 67321888 G A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.3191 p.R1064H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 175 0 0 60 16 21.0526 SLC12A4 0 genome.wustl.edu 37 16 67984960 67984960 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 67984960 67984960 A G SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.1307 p.I436T 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 204 0 0 49 19 27.9412 PLA2G15 0 genome.wustl.edu 37 16 68289850 68289850 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 68289850 68289850 G A SNP PLA2G15 ENST00000566188 human ensembl 74_37 +1 novel missense c.559 p.A187T 0.162 NULL pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 65 0 0 21 7 25 CDH3 0 genome.wustl.edu 37 16 68716319 68716319 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 68716319 68716319 G A SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.1111 p.G371S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 113 0 0 28 12 30 SF3B3 0 genome.wustl.edu 37 16 70563083 70563083 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 70563083 70563083 A G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known silent c.378 p.K126 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 147 0 0 69 21 23.3333 RHBDL1 0 genome.wustl.edu 37 16 726836 726836 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 726836 726836 C T SNP RHBDL1 ENST00000219551 human ensembl 74_37 +1 known silent c.561 p.Y187 1.000 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL1 HGNC ENSG00000103269 276 0 0 55 28 33.7349 WDR24 0 genome.wustl.edu 37 16 737628 737628 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 737628 737628 C T SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known missense c.983 p.R328Q 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 WDR24 HGNC ENSG00000127580 83 0 0 16 9 36 LDHD 0 genome.wustl.edu 37 16 75146546 75146546 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 75146546 75146546 C T SNP LDHD ENST00000300051 human ensembl 74_37 -1 known missense c.1312 p.A438T 0.000 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 92 0 0 17 11 39.2857 KCNG4 0 genome.wustl.edu 37 16 84256426 84256426 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 84256426 84256426 G A SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known silent c.957 p.D319 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,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 KCNG4 HGNC ENSG00000168418 39 0 0 15 5 25 COTL1 0 genome.wustl.edu 37 16 84600458 84600458 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 84600458 84600458 G A SNP COTL1 ENST00000262428 human ensembl 74_37 -1 known missense c.422 p.T141M 0.993 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors COTL1 HGNC ENSG00000103187 96 0 0 30 15 33.3333 KIAA0513 0 genome.wustl.edu 37 16 85111120 85111120 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 85111120 85111120 G A SNP KIAA0513 ENST00000258180 human ensembl 74_37 +1 known missense c.664 p.E222K 0.988 NULL pfam_SBF2 - no_errors KIAA0513 HGNC ENSG00000135709 104 1 0.952381 27 15 35.7143 FOXL1 0 genome.wustl.edu 37 16 86612522 86612522 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 86612522 86612522 G A SNP FOXL1 ENST00000320241 human ensembl 74_37 +1 known missense c.193 p.A65T 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 218 0 0 60 29 32.5843 FOXL1 0 genome.wustl.edu 37 16 86613223 86613223 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 86613223 86613223 G T SNP FOXL1 ENST00000320241 human ensembl 74_37 +1 known silent c.894 p.L298 0.962 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 77 0 0 19 3 13.6364 KLHDC4 0 genome.wustl.edu 37 16 87742975 87742975 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 87742975 87742975 C G SNP KLHDC4 ENST00000270583 human ensembl 74_37 -1 known missense c.1343 p.G448A 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC4 HGNC ENSG00000104731 281 0 0 69 11 13.75 USP7 0 genome.wustl.edu 37 16 8988969 8988969 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 8988969 8988969 A G SNP USP7 ENST00000344836 human ensembl 74_37 -1 known silent c.2958 p.N986 0.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 486 0 0 146 79 35.1111 TUBB3 0 genome.wustl.edu 37 16 90002028 90002028 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 90002028 90002028 G A SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.1169 p.R390Q 1.000 superfamily_Tub_FtsZ_C,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 433 1 0.230415 145 40 21.6216 C16orf72 0 genome.wustl.edu 37 16 9210617 9210617 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 9210617 9210617 A C SNP C16orf72 ENST00000327827 human ensembl 74_37 +1 known silent c.676 p.R226 1.000 NULL NULL - no_errors C16orf72 HGNC ENSG00000182831 231 0 0 92 51 35.6643 MYH13 0 genome.wustl.edu 37 17 10214522 10214522 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 10214522 10214522 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.4554 p.E1518 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 100 0 0 48 8 14.2857 MYH13 0 genome.wustl.edu 37 17 10222453 10222453 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 10222453 10222453 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.3392 p.T1131M 0.842 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 MYH13 HGNC ENSG00000006788 158 0 0 54 28 34.1463 MYOCD 0 genome.wustl.edu 37 17 12656201 12656201 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 12656201 12656201 C T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.1596 p.T532 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 55 0 0 33 8 19.5122 ELAC2 0 genome.wustl.edu 37 17 12896212 12896212 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 12896212 12896212 C T SNP ELAC2 ENST00000338034 human ensembl 74_37 -1 known missense c.2404 p.G802S 0.000 NULL pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 127 0 0 41 17 29.3103 PRPF8 0 genome.wustl.edu 37 17 1582418 1582418 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 1582418 1582418 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.1492 p.R498C 1.000 pfam_PROCN pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 271 0 0 67 31 31.6327 PRPF8 0 genome.wustl.edu 37 17 1585245 1585245 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 1585245 1585245 C T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known silent c.522 p.P174 0.027 pfam_PRO8NT pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 195 0 0 51 25 32.8947 MPRIP 0 genome.wustl.edu 37 17 17030057 17030057 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 17030057 17030057 C T SNP MPRIP ENST00000395811 human ensembl 74_37 +1 known silent c.309 p.C103 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 169 0 0 34 19 35.8491 MPRIP 0 genome.wustl.edu 37 17 17062029 17062029 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 17062029 17062029 C T SNP MPRIP ENST00000395811 human ensembl 74_37 +1 known missense c.1759 p.R587W 0.101 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 65 0 0 17 6 26.087 LOC440416 0 genome.wustl.edu 37 17 20805968 20805968 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 20805968 20805968 C T SNP LOC440416 ENST00000577537 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 35 0 0 15 3 16.6667 TMEM11 0 genome.wustl.edu 37 17 21101952 21101952 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 21101952 21101952 C T SNP TMEM11 ENST00000317635 human ensembl 74_37 -1 known silent c.264 p.A88 0.885 NULL NULL - no_errors TMEM11 HGNC ENSG00000178307 110 1 0.900901 49 5 9.25926 KCNJ12 0 genome.wustl.edu 37 17 21318787 21318787 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 21318787 21318787 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.133 p.R45C 1.000 pfam_K_chnl_inward-rec_Kir_N,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 144 0 0 45 6 11.7647 TBC1D3P5 0 genome.wustl.edu 37 17 25750970 25750970 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 25750970 25750970 G A SNP TBC1D3P5 ENST00000586223 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 94 0 0 31 3 8.82353 TAOK1 0 genome.wustl.edu 37 17 27857552 27857552 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 27857552 27857552 G A SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known missense c.2276 p.R759Q 1.000 superfamily_Kinase-like_dom,superfamily_Homeodomain-like pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 190 0 0 57 22 27.8481 OMG 0 genome.wustl.edu 37 17 29622153 29622153 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 29622153 29622153 G T SNP OMG ENST00000247271 human ensembl 74_37 -1 known silent c.1197 p.T399 0.999 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMG HGNC ENSG00000126861 403 0 0 209 74 26.1484 OR3A1 0 genome.wustl.edu 37 17 3195643 3195643 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 3195643 3195643 G A SNP OR3A1 ENST00000323404 human ensembl 74_37 -1 known silent c.234 p.S78 0.009 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 OR3A1 HGNC ENSG00000180090 99 0 0 54 26 32.5 ZNF830 0 genome.wustl.edu 37 17 33289068 33289068 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 33289068 33289068 T G SNP ZNF830 ENST00000361952 human ensembl 74_37 +1 known missense c.483 p.D161E 1.000 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 135 0 0 50 7 12.2807 ZNF830 0 genome.wustl.edu 37 17 33289083 33289083 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 33289083 33289083 A G SNP ZNF830 ENST00000361952 human ensembl 74_37 +1 known silent c.498 p.E166 0.094 NULL smart_Znf_U1 - no_errors ZNF830 HGNC ENSG00000198783 113 0 0 45 5 10 TAF15 0 genome.wustl.edu 37 17 34171552 34171552 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 34171552 34171552 G A SNP TAF15 ENST00000588240 human ensembl 74_37 +1 known missense c.1249 p.G417S 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 131 0 0 86 5 5.49451 PNMT 0 genome.wustl.edu 37 17 37826013 37826013 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 37826013 37826013 C T SNP PNMT ENST00000269582 human ensembl 74_37 +1 known missense c.334 p.R112C 0.981 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 128 1 0.775194 30 15 33.3333 THRA 0 genome.wustl.edu 37 17 38244713 38244713 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 38244713 38244713 G T SNP THRA ENST00000264637 human ensembl 74_37 +1 known silent c.942 p.T314 0.936 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 324 0 0 97 31 24.2188 KRT33A 0 genome.wustl.edu 37 17 39503321 39503321 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 39503321 39503321 C T SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known missense c.742 p.A248T 0.672 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 102 0 0 40 12 23.0769 KRT33B 0 genome.wustl.edu 37 17 39520144 39520144 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 39520144 39520144 T G SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known missense c.1159 p.T387P 0.687 NULL pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 152 0 0 39 20 33.8983 DHX58 0 genome.wustl.edu 37 17 40256795 40256795 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 40256795 40256795 A G SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.1552 p.Y518H 1.000 NULL pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 83 0 0 34 6 15 PLEKHH3 0 genome.wustl.edu 37 17 40825735 40825735 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 40825735 40825735 G A SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known missense c.416 p.A139V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 66 0 0 13 9 40.9091 BRCA1 0 genome.wustl.edu 37 17 41245719 41245719 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 41245719 41245719 C A SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.1829 p.R610M 0.993 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 178 0 0 60 29 32.5843 RUNDC3A 0 genome.wustl.edu 37 17 42390848 42390848 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 42390848 42390848 T G SNP RUNDC3A ENST00000426726 human ensembl 74_37 +1 known silent c.435 p.A145 0.995 pfam_Run,smart_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC ENSG00000108309 90 0 0 37 4 9.7561 KIF18B 0 genome.wustl.edu 37 17 43008980 43008980 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 43008980 43008980 G A SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.1543 p.R515C 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 176 0 0 68 24 26.087 MAP3K14 0 genome.wustl.edu 37 17 43364390 43364390 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 43364390 43364390 C T SNP MAP3K14 ENST00000344686 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MAP3K14 HGNC ENSG00000006062 66 0 0 14 9 39.1304 SMTNL2 0 genome.wustl.edu 37 17 4510711 4510711 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 4510711 4510711 C T SNP SMTNL2 ENST00000389313 human ensembl 74_37 +1 known missense c.1315 p.R439C 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL2 HGNC ENSG00000188176 473 1 0.21097 111 50 31.0559 NFE2L1 0 genome.wustl.edu 37 17 46135782 46135782 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 46135782 46135782 G A SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known silent c.1098 p.A366 0.003 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 237 0 0 69 24 25.8065 VPS53 0 genome.wustl.edu 37 17 465886 465886 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 465886 465886 G A SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known silent c.1413 p.C471 0.991 NULL pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 162 0 0 54 16 22.8571 HOXB1 0 genome.wustl.edu 37 17 46607743 46607743 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 46607743 46607743 G T SNP HOXB1 ENST00000239174 human ensembl 74_37 -1 known missense c.524 p.P175H 0.932 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 73 0 0 22 6 21.4286 HOXB3 0 genome.wustl.edu 37 17 46628518 46628518 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 46628518 46628518 A G SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.474 p.G158 0.576 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 66 0 0 10 6 37.5 HOXB3 0 genome.wustl.edu 37 17 46628524 46628524 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 46628524 46628524 G A SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.468 p.G156 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 73 0 0 10 6 37.5 HOXB3 0 genome.wustl.edu 37 17 46629516 46629516 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 46629516 46629516 G A SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.321 p.G107 0.272 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 463 0 0 110 58 34.5238 HOXB13 0 genome.wustl.edu 37 17 46804349 46804349 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 46804349 46804349 G A SNP HOXB13 ENST00000290295 human ensembl 74_37 -1 known missense c.658 p.R220C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 222 0 0 48 36 42.8571 PPP1R9B 0 genome.wustl.edu 37 17 48212586 48212586 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 48212586 48212586 C T SNP PPP1R9B ENST00000501501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP1R9B HGNC ENSG00000108819 29 0 0 1 3 75 XYLT2 0 genome.wustl.edu 37 17 48433258 48433258 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 48433258 48433258 T C SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.1205 p.F402S 0.999 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 113 0 0 31 10 24.3902 CACNA1G 0 genome.wustl.edu 37 17 48653598 48653598 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 48653598 48653598 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.1835 p.A612V 0.421 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 21 0 0 6 6 50 USP6 0 genome.wustl.edu 37 17 5041527 5041527 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 5041527 5041527 C T SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.1037 p.T346M 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 420 0 0 116 56 32.5581 CUEDC1 0 genome.wustl.edu 37 17 55945510 55945510 + Splice_Site SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 55945510 55945510 C T SNP CUEDC1 ENST00000360238 human ensembl 74_37 -1 known splice_site c.1034+1 e7+1 1.000 - - - no_errors CUEDC1 HGNC ENSG00000180891 110 0 0 28 13 31.7073 SMG8 0 genome.wustl.edu 37 17 57290673 57290673 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 57290673 57290673 C T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.2489 p.A830V 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 321 0 0 99 44 30.7692 PPM1D 0 genome.wustl.edu 37 17 58740617 58740617 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 58740617 58740617 A G SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known missense c.1522 p.M508V 0.147 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 186 1 0.534759 72 30 29.4118 MED13 0 genome.wustl.edu 37 17 60032891 60032891 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 60032891 60032891 C T SNP MED13 ENST00000397786 human ensembl 74_37 -1 known silent c.5820 p.T1940 0.995 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 175 0 0 80 39 32.7731 CEP95 0 genome.wustl.edu 37 17 62532743 62532743 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 62532743 62532743 A C SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known missense c.2094 p.E698D 1.000 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 119 0 0 41 19 31.6667 CACNG5 0 genome.wustl.edu 37 17 64873462 64873462 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 64873462 64873462 C T SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known silent c.12 p.C4 0.679 prints_VDCC_g5su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 151 0 0 40 25 38.4615 PRKAR1A 0 genome.wustl.edu 37 17 66511682 66511682 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 66511682 66511682 G A SNP PRKAR1A ENST00000358598 human ensembl 74_37 +1 known missense c.142 p.A48T 1.000 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1A HGNC ENSG00000108946 61 0 0 23 13 36.1111 ABCA9 0 genome.wustl.edu 37 17 66980295 66980295 + Nonstop_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 66980295 66980295 A G SNP ABCA9 ENST00000370732 human ensembl 74_37 -1 known nonstop c.4306 p.*1436Q 0.112 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 114 0 0 41 22 34.9206 GRIN2C 0 genome.wustl.edu 37 17 72851041 72851041 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 72851041 72851041 G A SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.191 p.P64L 0.998 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 102 0 0 22 8 26.6667 FDXR 0 genome.wustl.edu 37 17 72859231 72859231 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 72859231 72859231 A G SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.1330 p.Y444H 0.955 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 66 0 0 14 8 36.3636 NLGN2 0 genome.wustl.edu 37 17 7317671 7317671 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 7317671 7317671 G A SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.517 p.D173N 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 91 0 0 19 8 29.6296 SRP68 0 genome.wustl.edu 37 17 74035773 74035773 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 74035773 74035773 G A SNP SRP68 ENST00000542536 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SRP68 HGNC ENSG00000167881 64 0 0 19 14 42.4242 UBE2O 0 genome.wustl.edu 37 17 74394635 74394635 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 74394635 74394635 C A SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.1814 p.G605V 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 105 0 0 49 17 25.7576 TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 7574003 7574003 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.1024 p.R342* 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 79 0 0 17 4 19.0476 TP53 0 genome.wustl.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 7574018 7574018 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.1009 p.R337C 0.692 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 79 0 0 14 8 36.3636 DNAH2 0 genome.wustl.edu 37 17 7661896 7661896 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 7661896 7661896 T A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.2135 p.L712H 1.000 pfam_Dynein_heavy_dom-1 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 225 0 0 75 31 29.2453 RNF213 0 genome.wustl.edu 37 17 78319303 78319303 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 78319303 78319303 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.7168 p.D2390N 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 145 0 0 61 18 22.7848 NPLOC4 0 genome.wustl.edu 37 17 79539094 79539094 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 79539094 79539094 G C SNP NPLOC4 ENST00000374747 human ensembl 74_37 -1 known missense c.1302 p.N434K 0.976 pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 34 0 0 13 5 27.7778 NTN1 0 genome.wustl.edu 37 17 8926196 8926196 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 8926196 8926196 G A SNP NTN1 ENST00000173229 human ensembl 74_37 +1 known missense c.506 p.R169H 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 49 0 0 12 8 40 ABR 0 genome.wustl.edu 37 17 959308 959308 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 959308 959308 C T SNP ABR ENST00000302538 human ensembl 74_37 -1 known missense c.1528 p.V510I 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,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 ABR HGNC ENSG00000159842 150 0 0 38 17 30.9091 ABR 0 genome.wustl.edu 37 17 973307 973307 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 973307 973307 G A SNP ABR ENST00000302538 human ensembl 74_37 -1 known silent c.918 p.G306 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,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 ABR HGNC ENSG00000159842 113 0 0 20 9 31.0345 GLP2R 0 genome.wustl.edu 37 17 9792953 9792953 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 9792953 9792953 C T SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known silent c.1593 p.S531 0.018 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 32 0 0 10 8 44.4444 TUBB6 0 genome.wustl.edu 37 18 12325590 12325590 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 12325590 12325590 C T SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known missense c.802 p.P268S 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 132 0 0 59 9 13.2353 PSMA8 0 genome.wustl.edu 37 18 23772332 23772332 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 23772332 23772332 A G SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known missense c.728 p.E243G 1.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 62 0 0 35 7 16.6667 MEP1B 0 genome.wustl.edu 37 18 29788119 29788119 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 29788119 29788119 A G SNP MEP1B ENST00000269202 human ensembl 74_37 +1 known silent c.804 p.E268 0.996 pirsf_Pept_M12A_Meprin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 391 0 0 131 57 30.3191 ASXL3 0 genome.wustl.edu 37 18 31325872 31325872 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 31325872 31325872 A G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6060 p.P2020 0.024 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 34 0 0 13 6 31.5789 ELP2 0 genome.wustl.edu 37 18 33744530 33744530 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 33744530 33744530 G A SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known silent c.1854 p.T618 0.747 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 - no_errors ELP2 HGNC ENSG00000134759 162 0 0 89 34 27.6423 FHOD3 0 genome.wustl.edu 37 18 34349306 34349306 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 34349306 34349306 G A SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.4154 p.R1385H 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 97 0 0 45 29 39.1892 SETBP1 0 genome.wustl.edu 37 18 42532660 42532660 + Nonsense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 42532660 42532660 G T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known nonsense c.3355 p.G1119* 0.944 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 133 0 0 53 20 27.3973 ZBTB7C 0 genome.wustl.edu 37 18 45567019 45567019 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 45567019 45567019 C T SNP ZBTB7C ENST00000332053 human ensembl 74_37 -1 known missense c.460 p.E154K 0.993 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 83 0 0 33 12 26.6667 MYO5B 0 genome.wustl.edu 37 18 47431168 47431168 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 47431168 47431168 C T SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known silent c.2445 p.A815 0.001 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,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 MYO5B HGNC ENSG00000167306 84 0 0 32 5 13.5135 CXXC1 0 genome.wustl.edu 37 18 47809075 47809075 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 47809075 47809075 C A SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.1871 p.R624L 1.000 pfam_CpG-bd_C pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 120 0 0 25 14 35.8974 RAX 0 genome.wustl.edu 37 18 56939817 56939817 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 56939817 56939817 C T SNP RAX ENST00000334889 human ensembl 74_37 -1 known missense c.319 p.G107R 0.818 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 124 0 0 30 19 38.7755 SERPINB3 0 genome.wustl.edu 37 18 61322973 61322973 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 61322973 61322973 T C SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known missense c.1091 p.H364R 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 235 0 0 97 45 31.6901 SERPINB3 0 genome.wustl.edu 37 18 61323041 61323041 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 61323041 61323041 T C SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known silent c.1023 p.A341 0.291 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 199 0 0 78 20 20.4082 SERPINB3 0 genome.wustl.edu 37 18 61323053 61323053 + Silent SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 61323053 61323053 T A SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known silent c.1011 p.T337 0.003 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 183 0 0 75 23 23.4694 SERPINB3 0 genome.wustl.edu 37 18 61323056 61323056 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 61323056 61323056 A G SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known silent c.1008 p.V336 0.006 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 177 0 0 77 24 23.7624 CDH7 0 genome.wustl.edu 37 18 63530140 63530140 + Silent SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 63530140 63530140 C G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.1851 p.V617 0.735 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 61 0 0 33 14 29.7872 RTTN 0 genome.wustl.edu 37 18 67715346 67715346 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 67715346 67715346 A C SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.5402 p.L1801R 0.927 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 111 0 0 48 13 21.3115 ENOSF1 0 genome.wustl.edu 37 18 683287 683287 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 683287 683287 T A SNP ENOSF1 ENST00000340116 human ensembl 74_37 -1 known missense c.898 p.T300S 0.998 pfam_Mandelate_racemase_C,smart_Mandelate_racemase_C pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 236 0 0 77 37 32.4561 LAMA1 0 genome.wustl.edu 37 18 6959369 6959369 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 6959369 6959369 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.7749 p.A2583 0.001 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 208 0 0 81 30 27.027 SALL3 0 genome.wustl.edu 37 18 76753340 76753340 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 76753340 76753340 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1349 p.C450Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 49 0 0 9 4 30.7692 SALL3 0 genome.wustl.edu 37 18 76754516 76754516 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 76754516 76754516 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.2525 p.A842V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 118 0 0 25 14 35.8974 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 70 0 0 7 17 70.8333 KCNG2 0 genome.wustl.edu 37 18 77659548 77659548 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 77659548 77659548 G A SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.1133 p.R378H 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 124 0 0 35 4 10.2564 KCNG2 0 genome.wustl.edu 37 18 77659577 77659577 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 77659577 77659577 A G SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.1162 p.S388G 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 138 0 0 34 10 22.7273 CDKN2D 0 genome.wustl.edu 37 19 10677793 10677793 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 10677793 10677793 G A SNP CDKN2D ENST00000335766 human ensembl 74_37 -1 known nonsense c.442 p.Q148* 0.928 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2D HGNC ENSG00000129355 197 0 0 55 33 37.5 ELAVL3 0 genome.wustl.edu 37 19 11565638 11565638 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 11565638 11565638 G A SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known silent c.807 p.G269 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 402 0 0 128 40 23.8095 ZNF700 0 genome.wustl.edu 37 19 12059372 12059372 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 12059372 12059372 G A SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.533 p.R178H 0.003 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 ZNF700 HGNC ENSG00000196757 265 0 0 120 43 26.3804 MIDN 0 genome.wustl.edu 37 19 1257208 1257208 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 1257208 1257208 C T SNP MIDN ENST00000300952 human ensembl 74_37 +1 known silent c.1344 p.F448 0.998 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors MIDN HGNC ENSG00000167470 248 0 0 49 17 25.7576 DAND5 0 genome.wustl.edu 37 19 13084268 13084268 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 13084268 13084268 C A SNP DAND5 ENST00000317060 human ensembl 74_37 +1 known silent c.390 p.S130 0.164 pfam_DAN,pirsf_Cerberus pfam_DAN,pirsf_Cerberus - no_errors DAND5 HGNC ENSG00000179284 264 0 0 71 27 27.551 DCAF15 0 genome.wustl.edu 37 19 14067019 14067019 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 14067019 14067019 C T SNP DCAF15 ENST00000254337 human ensembl 74_37 +1 known silent c.558 p.A186 0.122 NULL NULL - no_errors DCAF15 HGNC ENSG00000132017 59 0 0 22 11 33.3333 RFX1 0 genome.wustl.edu 37 19 14104570 14104570 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 14104570 14104570 G A SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known missense c.86 p.P29L 0.991 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 114 0 0 20 9 31.0345 PKN1 0 genome.wustl.edu 37 19 14581440 14581440 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 14581440 14581440 C T SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known silent c.2508 p.D836 0.886 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_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 54 0 0 5 10 66.6667 CYP4F22 0 genome.wustl.edu 37 19 15651358 15651358 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 15651358 15651358 C T SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.769 p.R257C 0.875 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 CYP4F22 HGNC ENSG00000171954 196 0 0 72 22 23.4043 SIN3B 0 genome.wustl.edu 37 19 16980624 16980624 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 16980624 16980624 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known silent c.2256 p.P752 0.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 100 0 0 19 12 38.7097 CPAMD8 0 genome.wustl.edu 37 19 17038831 17038831 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 17038831 17038831 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3499 p.A1167T 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 166 0 0 34 14 29.1667 FCHO1 0 genome.wustl.edu 37 19 17881380 17881380 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 17881380 17881380 G T SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known missense c.483 p.M161I 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 103 0 0 20 4 16.6667 PIK3R2 0 genome.wustl.edu 37 19 18273010 18273010 + Splice_Site SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 18273010 18273010 A G SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known splice_site c.902-2 e7-2 0.996 - - - no_errors PIK3R2 HGNC ENSG00000105647 41 0 0 16 11 40.7407 LRRC25 0 genome.wustl.edu 37 19 18502843 18502843 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 18502843 18502843 C T SNP LRRC25 ENST00000339007 human ensembl 74_37 -1 known missense c.872 p.G291D 0.002 NULL NULL - no_errors LRRC25 HGNC ENSG00000175489 104 0 0 21 5 19.2308 NCAN 0 genome.wustl.edu 37 19 19338531 19338531 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 19338531 19338531 C G SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.2102 p.P701R 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 189 1 0.526316 61 23 27.381 ZNF14 0 genome.wustl.edu 37 19 19822525 19822525 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 19822525 19822525 T C SNP ZNF14 ENST00000344099 human ensembl 74_37 -1 known missense c.1565 p.E522G 0.091 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 ZNF14 HGNC ENSG00000105708 284 0 0 149 8 5.09554 ZNF626 0 genome.wustl.edu 37 19 20808310 20808310 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 20808310 20808310 C T SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known missense c.373 p.V125M 0.028 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 ZNF626 HGNC ENSG00000188171 212 0 0 103 25 19.5312 CHST8 0 genome.wustl.edu 37 19 34263898 34263898 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 34263898 34263898 G A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.1205 p.R402H 0.998 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 86 0 0 19 13 40.625 LSR 0 genome.wustl.edu 37 19 35741230 35741230 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 35741230 35741230 C T SNP LSR ENST00000361790 human ensembl 74_37 +1 known missense c.266 p.A89V 0.336 pfscan_Ig-like_dom pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 749 0 0 233 69 22.8477 USF2 0 genome.wustl.edu 37 19 35761435 35761435 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 35761435 35761435 C T SNP USF2 ENST00000222305 human ensembl 74_37 +1 known missense c.515 p.A172V 0.995 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF2 HGNC ENSG00000105698 164 0 0 30 16 34.7826 MAG 0 genome.wustl.edu 37 19 35791272 35791272 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 35791272 35791272 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.935 p.G312D 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 80 0 0 17 5 22.7273 GAPDHS 0 genome.wustl.edu 37 19 36027833 36027833 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 36027833 36027833 C T SNP GAPDHS ENST00000222286 human ensembl 74_37 +1 known silent c.186 p.P62 0.000 NULL pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 315 0 0 63 24 27.5862 KMT2B 0 genome.wustl.edu 37 19 36216189 36216189 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 36216189 36216189 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.3597 p.G1199 0.130 pirsf_MeTrfase_trithorax,superfamily_Znf_FYVE_PHD pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 77 0 0 11 7 38.8889 LRFN3 0 genome.wustl.edu 37 19 36430331 36430331 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 36430331 36430331 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.4 p.A2T 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 241 0 0 42 34 44.7368 ZNF585B 0 genome.wustl.edu 37 19 37676954 37676954 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 37676954 37676954 T C SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.1485 p.I495M 0.366 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 ZNF585B HGNC ENSG00000245680 135 0 0 77 30 28.0374 ZNF569 0 genome.wustl.edu 37 19 37917233 37917233 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 37917233 37917233 C T SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known silent c.63 p.E21 0.999 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 ZNF569 HGNC ENSG00000196437 136 0 0 64 25 28.0899 ZFR2 0 genome.wustl.edu 37 19 3823259 3823259 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 3823259 3823259 C T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.1356 p.P452 0.297 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 367 0 0 74 35 32.1101 ACTN4 0 genome.wustl.edu 37 19 39191313 39191313 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 39191313 39191313 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.236 p.R79Q 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 ACTN4 HGNC ENSG00000130402 143 0 0 43 25 36.7647 FCGBP 0 genome.wustl.edu 37 19 40399803 40399803 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 40399803 40399803 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.5892 p.P1964 0.403 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 161 0 0 15 6 28.5714 CYP2A6 0 genome.wustl.edu 37 19 41349705 41349705 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 41349705 41349705 C T SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known missense c.1481 p.R494H 1.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 191 0 0 64 23 26.4368 AXL 0 genome.wustl.edu 37 19 41726691 41726691 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 41726691 41726691 C T SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.236 p.A79V 0.888 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 125 1 0.793651 20 14 41.1765 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 271 1 0.367647 82 31 27.4336 PSG11 0 genome.wustl.edu 37 19 43519387 43519387 + Nonsense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 43519387 43519387 G T SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known nonsense c.845 p.S282* 0.004 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 435 0 0 167 63 27.3913 ZNF428 0 genome.wustl.edu 37 19 44111887 44111887 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 44111887 44111887 T C SNP ZNF428 ENST00000300811 human ensembl 74_37 -1 known missense c.449 p.E150G 0.055 NULL pfscan_Znf_C2H2 - no_errors ZNF428 HGNC ENSG00000131116 60 0 0 9 6 40 ZNF284 0 genome.wustl.edu 37 19 44590402 44590402 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 44590402 44590402 A C SNP ZNF284 ENST00000421176 human ensembl 74_37 +1 known missense c.771 p.K257N 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 ZNF284 HGNC ENSG00000186026 182 1 0.546448 78 35 30.9735 BCAM 0 genome.wustl.edu 37 19 45316790 45316790 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 45316790 45316790 G A SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.697 p.A233T 0.931 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 217 1 0.458716 49 23 31.9444 SEMA6B 0 genome.wustl.edu 37 19 4548310 4548310 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 4548310 4548310 G A SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.1419 p.V473 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 149 0 0 42 14 25 NKPD1 0 genome.wustl.edu 37 19 45656240 45656240 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 45656240 45656240 C T SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known silent c.1455 p.A485 0.983 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 20 0 0 6 3 33.3333 RTN2 0 genome.wustl.edu 37 19 45992808 45992808 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 45992808 45992808 G A SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known missense c.1037 p.A346V 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 27 0 0 7 3 30 IGFL4 0 genome.wustl.edu 37 19 46543796 46543796 + Nonsense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 46543796 46543796 G C SNP IGFL4 ENST00000377697 human ensembl 74_37 -1 known nonsense c.50 p.S17* 0.005 NULL NULL - no_errors IGFL4 HGNC ENSG00000204869 157 0 0 49 16 24.6154 TICAM1 0 genome.wustl.edu 37 19 4818093 4818093 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 4818093 4818093 C T SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known silent c.297 p.L99 0.227 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 72 0 0 37 14 27.451 CYTH2 0 genome.wustl.edu 37 19 48977274 48977274 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 48977274 48977274 G T SNP CYTH2 ENST00000427476 human ensembl 74_37 +1 known missense c.547 p.D183Y 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 CYTH2 HGNC ENSG00000105443 99 0 0 11 12 52.1739 IZUMO1 0 genome.wustl.edu 37 19 49246783 49246783 + Splice_Site SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 49246783 49246783 C A SNP IZUMO1 ENST00000332955 human ensembl 74_37 -1 known splice_site c.419-1 e5-1 0.967 - - - no_errors IZUMO1 HGNC ENSG00000182264 101 0 0 16 6 27.2727 AP2A1 0 genome.wustl.edu 37 19 50309974 50309974 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 50309974 50309974 G A SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.2827 p.V943I 1.000 pfam_Clathrin_a-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 154 0 0 43 19 30.6452 MED25 0 genome.wustl.edu 37 19 50339096 50339096 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 50339096 50339096 G A SNP MED25 ENST00000312865 human ensembl 74_37 +1 known missense c.1859 p.G620D 1.000 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 81 0 0 14 11 44 KDM4B 0 genome.wustl.edu 37 19 5039897 5039897 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 5039897 5039897 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known silent c.192 p.D64 0.428 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 217 0 0 49 27 35.5263 SYT3 0 genome.wustl.edu 37 19 51136065 51136065 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 51136065 51136065 A C SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.152 p.I51S 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 208 0 0 65 5 7.14286 KLK2 0 genome.wustl.edu 37 19 51379894 51379894 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 51379894 51379894 C T SNP KLK2 ENST00000325321 human ensembl 74_37 +1 known missense c.373 p.R125C 0.016 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK2 HGNC ENSG00000167751 103 0 0 28 14 33.3333 KLK7 0 genome.wustl.edu 37 19 51483543 51483543 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 51483543 51483543 C T SNP KLK7 ENST00000391807 human ensembl 74_37 -1 known missense c.422 p.G141E 0.892 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 KLK7 HGNC ENSG00000169035 105 0 0 24 8 25 TPGS1 0 genome.wustl.edu 37 19 518967 518967 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 518967 518967 C T SNP TPGS1 ENST00000359315 human ensembl 74_37 +1 known silent c.417 p.D139 0.999 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors TPGS1 HGNC ENSG00000141933 39 0 0 3 4 57.1429 PTPRS 0 genome.wustl.edu 37 19 5210705 5210705 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 5210705 5210705 C A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.5349 p.L1783 0.951 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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 125 0 0 38 3 7.31707 ZNF614 0 genome.wustl.edu 37 19 52520479 52520479 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 52520479 52520479 C T SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known silent c.372 p.V124 0.006 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 61 0 0 55 3 5.17241 ZNF808 0 genome.wustl.edu 37 19 53050772 53050772 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 53050772 53050772 T C SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.71 p.L24S 0.038 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 ZNF808 HGNC ENSG00000198482 368 0 0 100 47 31.9728 MIR1283-1 0 genome.wustl.edu 37 19 54191791 54191791 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 54191791 54191791 C T SNP MIR1283-1 ENST00000408494 human ensembl 74_37 +1 known rna NULL NULL 0.147 - - - no_errors MIR1283-1 HGNC ENSG00000221421 168 0 0 53 33 38.3721 MIR526A2 0 genome.wustl.edu 37 19 54230198 54230198 + RNA SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 54230198 54230198 T C SNP MIR526A2 ENST00000390198 human ensembl 74_37 +1 known rna NULL NULL 0.096 - - - no_errors MIR526A2 HGNC ENSG00000211532 202 0 0 69 39 36.1111 TMC4 0 genome.wustl.edu 37 19 54676754 54676754 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 54676754 54676754 G C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.59 p.A20G 0.989 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 558 1 0.178891 160 23 12.5683 NLRP11 0 genome.wustl.edu 37 19 56320425 56320425 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 56320425 56320425 C A SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.1551 p.M517I 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 249 0 0 135 40 22.8571 ZNF787 0 genome.wustl.edu 37 19 56599550 56599550 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 56599550 56599550 C T SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known missense c.991 p.A331T 0.990 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 35 0 0 5 2 28.5714 SAFB 0 genome.wustl.edu 37 19 5661753 5661753 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 5661753 5661753 G A SNP SAFB ENST00000588852 human ensembl 74_37 +1 known missense c.2087 p.R696H 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 23 0 0 8 4 33.3333 SAFB 0 genome.wustl.edu 37 19 5668284 5668284 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 5668284 5668284 C T SNP SAFB ENST00000588852 human ensembl 74_37 +1 known silent c.2736 p.R912 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 142 0 0 27 19 41.3043 ZNF71 0 genome.wustl.edu 37 19 57134038 57134038 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 57134038 57134038 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.1383 p.T461 0.005 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 111 0 0 45 15 25 FUT6 0 genome.wustl.edu 37 19 5831642 5831642 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 5831642 5831642 C T SNP FUT6 ENST00000592563 human ensembl 74_37 -1 known missense c.937 p.A313T 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 89 0 0 35 6 14.6341 ZNF814 0 genome.wustl.edu 37 19 58386114 58386114 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 58386114 58386114 C T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.644 p.S215N 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 43 0 0 20 12 37.5 ZNF135 0 genome.wustl.edu 37 19 58579087 58579087 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 58579087 58579087 G A SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.1307 p.C436Y 0.918 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 ZNF135 HGNC ENSG00000176293 171 0 0 45 15 25 ZBTB45 0 genome.wustl.edu 37 19 59028938 59028938 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 59028938 59028938 C T SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known missense c.103 p.V35M 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 ZBTB45 HGNC ENSG00000119574 136 0 0 33 16 32.6531 CLEC4G 0 genome.wustl.edu 37 19 7796189 7796189 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 7796189 7796189 C T SNP CLEC4G ENST00000328853 human ensembl 74_37 -1 known silent c.183 p.A61 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 22 0 0 1 2 66.6667 MYO1F 0 genome.wustl.edu 37 19 8616964 8616964 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 8616964 8616964 C T SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.589 p.V197M 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 MYO1F HGNC ENSG00000142347 282 0 0 64 21 24.7059 MYO1F 0 genome.wustl.edu 37 19 8619568 8619568 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 8619568 8619568 G A SNP MYO1F ENST00000598321 human ensembl 74_37 -1 known nonsense c.223 p.R75* 0.487 NULL superfamily_P-loop_NTPase - no_errors MYO1F HGNC ENSG00000142347 175 0 0 45 21 31.8182 MBD3L1 0 genome.wustl.edu 37 19 8953876 8953876 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 8953876 8953876 G A SNP MBD3L1 ENST00000305625 human ensembl 74_37 +1 known silent c.522 p.A174 0.000 NULL NULL - no_errors MBD3L1 HGNC ENSG00000170948 66 0 0 10 5 33.3333 MUC16 0 genome.wustl.edu 37 19 9083531 9083531 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 9083531 9083531 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.8284 p.S2762R 0.010 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 158 0 0 38 19 33.3333 OR7G2 0 genome.wustl.edu 37 19 9213400 9213400 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 9213400 9213400 T G SNP OR7G2 ENST00000305456 human ensembl 74_37 -1 known missense c.583 p.I195L 0.040 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 OR7G2 HGNC ENSG00000170923 146 0 0 44 15 25.4237 CHST10 0 genome.wustl.edu 37 2 101023061 101023061 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 101023061 101023061 G A SNP CHST10 ENST00000542617 human ensembl 74_37 -1 known missense c.221 p.T74M 0.964 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST10 HGNC ENSG00000115526 660 0 0 201 90 30.9278 NPAS2 0 genome.wustl.edu 37 2 101606806 101606806 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 101606806 101606806 C A SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.2111 p.A704D 0.025 NULL pfam_PAS_fold_3,pfam_PAS_fold,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 NPAS2 HGNC ENSG00000170485 143 0 0 43 19 30.6452 GPR45 0 genome.wustl.edu 37 2 105858503 105858503 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 105858503 105858503 C T SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.188 p.P63L 0.996 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_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 231 0 0 73 33 31.1321 ATP6V1C2 0 genome.wustl.edu 37 2 10918696 10918696 + Splice_Site SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 10918696 10918696 A T SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known splice_site c.964-2 e11-2 1.000 - - - no_errors ATP6V1C2 HGNC ENSG00000143882 91 0 0 36 3 7.69231 CKAP2L 0 genome.wustl.edu 37 2 113514492 113514492 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 113514492 113514492 C T SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known silent c.456 p.Q152 0.617 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 98 0 0 56 26 31.7073 INSIG2 0 genome.wustl.edu 37 2 118864334 118864334 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 118864334 118864334 A G SNP INSIG2 ENST00000245787 human ensembl 74_37 +1 known missense c.391 p.I131V 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 108 0 0 70 27 27.8351 LPIN1 0 genome.wustl.edu 37 2 11907961 11907961 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 11907961 11907961 G A SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.412 p.V138I 1.000 pfam_Lipin_N pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 157 0 0 51 19 27.1429 STEAP3 0 genome.wustl.edu 37 2 120005667 120005667 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 120005667 120005667 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.935 p.R312H 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 86 0 0 28 16 36.3636 GLI2 0 genome.wustl.edu 37 2 121684992 121684992 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 121684992 121684992 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.204 p.H68 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 408 0 0 103 46 30.8725 TUBA3E 0 genome.wustl.edu 37 2 130951495 130951495 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 130951495 130951495 G T SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known missense c.920 p.P307H 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 305 0 0 118 36 23.3766 POTEI 0 genome.wustl.edu 37 2 131221046 131221046 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 131221046 131221046 G A SNP POTEI ENST00000451531 human ensembl 74_37 -1 novel silent c.2571 p.D857 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEI HGNC ENSG00000196834 42 0 0 27 11 28.9474 RAB3GAP1 0 genome.wustl.edu 37 2 135848572 135848572 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 135848572 135848572 T C SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.155 p.I52T 0.997 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 137 0 0 61 21 25.6098 ZRANB3 0 genome.wustl.edu 37 2 135988401 135988401 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 135988401 135988401 G A SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known missense c.1636 p.R546W 0.008 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 149 0 0 64 32 33.3333 THSD7B 0 genome.wustl.edu 37 2 137988713 137988713 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 137988713 137988713 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1823 p.T608M 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 64 0 0 26 13 33.3333 LRP1B 0 genome.wustl.edu 37 2 141607887 141607887 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 141607887 141607887 A T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4723 p.F1575I 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 29 0 0 19 8 29.6296 MBD5 0 genome.wustl.edu 37 2 149227818 149227818 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 149227818 149227818 T C SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.2306 p.V769A 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 183 0 0 88 35 28.4553 NEB 0 genome.wustl.edu 37 2 152347012 152347012 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 152347012 152347012 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.25171 p.R8391W 1.000 NULL 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 16 0 0 6 5 45.4545 NBAS 0 genome.wustl.edu 37 2 15534390 15534390 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 15534390 15534390 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.3218 p.R1073H 0.619 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 38 0 0 20 21 51.2195 KCNH7 0 genome.wustl.edu 37 2 163292018 163292018 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 163292018 163292018 G A SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known silent c.1644 p.G548 0.215 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 96 0 0 45 13 22.4138 PXDN 0 genome.wustl.edu 37 2 1652889 1652889 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 1652889 1652889 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2663 p.G888D 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 70 0 0 17 7 29.1667 SCN2A 0 genome.wustl.edu 37 2 166245809 166245809 + Silent SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 166245809 166245809 A T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.5493 p.I1831 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 249 0 0 108 42 28 SCN9A 0 genome.wustl.edu 37 2 167055493 167055493 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 167055493 167055493 G A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.5659 p.R1887W 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 268 0 0 106 43 28.8591 XIRP2 0 genome.wustl.edu 37 2 168106617 168106617 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 168106617 168106617 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.8715 p.Q2905H 0.376 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 176 0 0 78 31 28.4404 XIRP2 0 genome.wustl.edu 37 2 168115319 168115319 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 168115319 168115319 A G SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known missense c.2362 p.T788A 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 73 0 0 44 11 20 LRP2 0 genome.wustl.edu 37 2 170058203 170058203 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 170058203 170058203 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.8387 p.R2796H 0.003 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 101 0 0 54 12 18.1818 SATB2 0 genome.wustl.edu 37 2 200137257 200137257 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 200137257 200137257 C A SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.1879 p.G627W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 133 0 0 61 21 25.6098 AOX1 0 genome.wustl.edu 37 2 201473845 201473845 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 201473845 201473845 T A SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.1046 p.I349N 1.000 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 56 0 0 39 9 18.75 ALS2 0 genome.wustl.edu 37 2 202626188 202626188 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 202626188 202626188 C T SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.529 p.G177S 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 114 0 0 55 30 35.2941 NOP58 0 genome.wustl.edu 37 2 203139835 203139835 + Splice_Site SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 203139835 203139835 G T SNP NOP58 ENST00000264279 human ensembl 74_37 +1 known splice_site c.46-1 e2-1 1.000 - - - no_errors NOP58 HGNC ENSG00000055044 68 0 0 19 7 26.9231 PARD3B 0 genome.wustl.edu 37 2 205829969 205829969 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 205829969 205829969 C T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.317 p.T106I 0.945 pfam_DUF3534 pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 64 0 0 20 11 35.4839 PARD3B 0 genome.wustl.edu 37 2 206023539 206023539 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 206023539 206023539 G A SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.1528 p.G510R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 182 0 0 68 25 26.8817 RPE 0 genome.wustl.edu 37 2 210880764 210880764 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 210880764 210880764 G A SNP RPE ENST00000359429 human ensembl 74_37 +1 known silent c.270 p.Q90 0.965 pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like - no_errors RPE HGNC ENSG00000197713 99 0 0 49 16 24.6154 SMARCAL1 0 genome.wustl.edu 37 2 217279576 217279576 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 217279576 217279576 A G SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.149 p.K50R 0.036 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 308 0 0 92 30 24.5902 RNF25 0 genome.wustl.edu 37 2 219529010 219529010 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 219529010 219529010 G A SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known silent c.1050 p.P350 0.000 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 193 0 0 55 37 40.2174 CRYBA2 0 genome.wustl.edu 37 2 219855029 219855029 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 219855029 219855029 A C SNP CRYBA2 ENST00000295728 human ensembl 74_37 -1 known missense c.539 p.L180R 0.981 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA2 HGNC ENSG00000163499 190 0 0 41 9 18 SPEG 0 genome.wustl.edu 37 2 220332024 220332024 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 220332024 220332024 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3010 p.R1004C 0.306 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 233 0 0 46 17 26.9841 FAM124B 0 genome.wustl.edu 37 2 225266179 225266179 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 225266179 225266179 G A SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known missense c.307 p.R103W 0.000 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 82 0 0 26 12 31.5789 TM4SF20 0 genome.wustl.edu 37 2 228235653 228235653 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 228235653 228235653 G T SNP TM4SF20 ENST00000304568 human ensembl 74_37 -1 known missense c.227 p.A76E 0.004 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF20 HGNC ENSG00000168955 652 0 0 240 92 27.7108 ITM2C 0 genome.wustl.edu 37 2 231740484 231740484 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 231740484 231740484 C T SNP ITM2C ENST00000326427 human ensembl 74_37 +1 known silent c.411 p.G137 0.018 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2C HGNC ENSG00000135916 329 0 0 84 16 16 HJURP 0 genome.wustl.edu 37 2 234749823 234749823 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 234749823 234749823 G A SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.1603 p.R535C 0.000 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 215 0 0 48 15 23.8095 UBE2F 0 genome.wustl.edu 37 2 238881818 238881818 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 238881818 238881818 G A SNP UBE2F ENST00000272930 human ensembl 74_37 +1 known silent c.69 p.A23 0.043 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2F HGNC ENSG00000184182 185 0 0 55 29 34.5238 OR6B2 0 genome.wustl.edu 37 2 240969019 240969019 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 240969019 240969019 G A SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known silent c.828 p.A276 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 175 0 0 33 29 46.7742 KIF1A 0 genome.wustl.edu 37 2 241726711 241726711 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 241726711 241726711 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.386 p.R129Q 0.994 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 212 0 0 20 12 37.5 ANO7 0 genome.wustl.edu 37 2 242135202 242135202 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 242135202 242135202 G T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.413 p.R138M 0.017 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 149 0 0 21 8 27.5862 SEPT2 0 genome.wustl.edu 37 2 242265515 242265515 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 242265515 242265515 A G SNP SEPT2 ENST00000360051 human ensembl 74_37 +1 known silent c.117 p.T39 0.575 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2 - no_errors SEPT2 HGNC ENSG00000168385 74 0 0 15 15 50 ADCY3 0 genome.wustl.edu 37 2 25141664 25141664 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 25141664 25141664 G T SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.193 p.L65I 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 144 1 0.689655 48 3 5.88235 DTNB 0 genome.wustl.edu 37 2 25650468 25650468 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 25650468 25650468 G A SNP DTNB ENST00000406818 human ensembl 74_37 -1 known missense c.1490 p.S497L 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 142 0 0 42 16 27.5862 OTOF 0 genome.wustl.edu 37 2 26699057 26699057 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 26699057 26699057 C A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.2805 p.E935D 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 64 0 0 25 7 21.875 CIB4 0 genome.wustl.edu 37 2 26804180 26804180 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 26804180 26804180 C T SNP CIB4 ENST00000403670 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors CIB4 HGNC ENSG00000157884 55 0 0 9 4 30.7692 PREB 0 genome.wustl.edu 37 2 27355197 27355197 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 27355197 27355197 T C SNP PREB ENST00000260643 human ensembl 74_37 -1 known missense c.827 p.Q276R 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PREB HGNC ENSG00000138073 198 0 0 57 24 29.6296 SLC5A6 0 genome.wustl.edu 37 2 27426696 27426696 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 27426696 27426696 G A SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known missense c.1045 p.P349S 1.000 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 SLC5A6 HGNC ENSG00000138074 84 0 0 24 13 35.1351 IFT172 0 genome.wustl.edu 37 2 27684682 27684682 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 27684682 27684682 C T SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2137 p.G713S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 103 0 0 46 3 6.12245 SERTAD2 0 genome.wustl.edu 37 2 64863927 64863927 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 64863927 64863927 C T SNP SERTAD2 ENST00000313349 human ensembl 74_37 -1 known missense c.79 p.G27S 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD2 HGNC ENSG00000179833 250 0 0 81 24 22.8571 TEX261 0 genome.wustl.edu 37 2 71216123 71216123 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 71216123 71216123 G T SNP TEX261 ENST00000272438 human ensembl 74_37 -1 known missense c.397 p.L133M 1.000 pfam_Transmembrane_adaptor_Erv26 pfam_Transmembrane_adaptor_Erv26 - no_errors TEX261 HGNC ENSG00000144043 40 0 0 14 9 39.1304 ZNF638 0 genome.wustl.edu 37 2 71629219 71629219 + Splice_Site SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 71629219 71629219 T C SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known splice_site c.2829+2 e15+2 1.000 - - - no_errors ZNF638 HGNC ENSG00000075292 59 0 0 33 12 26.6667 DYSF 0 genome.wustl.edu 37 2 71797446 71797446 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 71797446 71797446 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3106 p.R1036W 0.997 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 136 0 0 39 15 27.7778 DYSF 0 genome.wustl.edu 37 2 71801367 71801367 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 71801367 71801367 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3307 p.A1103T 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 295 0 0 86 47 35.3383 FBXO41 0 genome.wustl.edu 37 2 73487661 73487661 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 73487661 73487661 G A SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known missense c.2488 p.R830W 1.000 NULL superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 22 0 0 10 4 28.5714 DGUOK-AS1 0 genome.wustl.edu 37 2 74185189 74185189 + RNA SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 74185189 74185189 T G SNP DGUOK-AS1 ENST00000413452 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors DGUOK-AS1 HGNC ENSG00000237883 26 0 0 8 8 50 DCTN1 0 genome.wustl.edu 37 2 74597439 74597439 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 74597439 74597439 C T SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known silent c.1161 p.E387 1.000 superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 90 0 0 30 14 31.8182 KCMF1 0 genome.wustl.edu 37 2 85280302 85280302 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 85280302 85280302 C T SNP KCMF1 ENST00000409785 human ensembl 74_37 +1 known missense c.916 p.R306C 1.000 NULL pfam_Znf_ZZ,pfam_Di19_Zn_binding,smart_Znf_ZZ,smart_Znf_C2H2-like,pfscan_Znf_ZZ,pfscan_Znf_C2H2 - no_errors KCMF1 HGNC ENSG00000176407 57 0 0 15 5 25 TEX37 0 genome.wustl.edu 37 2 88828731 88828731 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 88828731 88828731 C A SNP TEX37 ENST00000303254 human ensembl 74_37 +1 known silent c.282 p.A94 0.000 NULL NULL - no_errors TEX37 HGNC ENSG00000172073 193 0 0 64 37 36.6337 EIF2AK3 0 genome.wustl.edu 37 2 88885399 88885399 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 88885399 88885399 G A SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1610 p.T537M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 91 0 0 41 14 25.4545 ASTL 0 genome.wustl.edu 37 2 96789817 96789817 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 96789817 96789817 T G SNP ASTL ENST00000342380 human ensembl 74_37 -1 known silent c.1068 p.A356 0.011 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 256 0 0 52 16 23.5294 RALGAPA2 0 genome.wustl.edu 37 20 20484084 20484084 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 20484084 20484084 C T SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.5119 p.A1707T 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 73 0 0 28 16 36.3636 SSTR4 0 genome.wustl.edu 37 20 23016316 23016316 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 23016316 23016316 G T SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.196 p.A66S 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 222 0 0 71 30 29.703 CD93 0 genome.wustl.edu 37 20 23065176 23065176 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 23065176 23065176 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.1654 p.A552T 0.000 pirsf_CD93/CD141 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 149 0 0 50 16 24.2424 APMAP 0 genome.wustl.edu 37 20 24952096 24952096 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 24952096 24952096 G A SNP APMAP ENST00000217456 human ensembl 74_37 -1 known missense c.538 p.R180C 1.000 pfam_SGL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 79 0 0 27 14 34.1463 ACSS1 0 genome.wustl.edu 37 20 24994689 24994689 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 24994689 24994689 C T SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.1360 p.A454T 0.828 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 33 0 0 13 6 31.5789 PTPRA 0 genome.wustl.edu 37 20 3007405 3007405 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 3007405 3007405 C T SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.1720 p.R574C 0.990 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,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 PTPRA HGNC ENSG00000132670 73 0 0 39 8 17.0213 LZTS3 0 genome.wustl.edu 37 20 3147530 3147530 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 3147530 3147530 C T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.280 p.A94T 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 56 0 0 25 4 13.7931 BPIFA3 0 genome.wustl.edu 37 20 31815476 31815476 + RNA SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 31815476 31815476 G C SNP BPIFA3 ENST00000471233 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA3 HGNC ENSG00000131059 43 0 0 22 12 35.2941 NECAB3 0 genome.wustl.edu 37 20 32246607 32246607 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 32246607 32246607 C T SNP NECAB3 ENST00000246190 human ensembl 74_37 -1 known missense c.913 p.A305T 1.000 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB3 HGNC ENSG00000125967 63 0 0 24 7 22.5806 TP53INP2 0 genome.wustl.edu 37 20 33297184 33297184 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 33297184 33297184 G A SNP TP53INP2 ENST00000374809 human ensembl 74_37 +1 known missense c.269 p.R90H 0.998 NULL NULL - no_errors TP53INP2 HGNC ENSG00000078804 120 0 0 26 16 38.0952 GGT7 0 genome.wustl.edu 37 20 33450750 33450750 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 33450750 33450750 C T SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel missense c.424 p.V142M 1.000 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 45 0 0 15 3 16.6667 ATRN 0 genome.wustl.edu 37 20 3543988 3543988 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 3543988 3543988 A G SNP ATRN ENST00000262919 human ensembl 74_37 +1 known silent c.1764 p.S588 0.996 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 171 0 0 90 66 42.3077 BPI 0 genome.wustl.edu 37 20 36939000 36939000 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 36939000 36939000 G A SNP BPI ENST00000262865 human ensembl 74_37 +1 known missense c.494 p.S165N 0.028 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 110 0 0 35 20 36.3636 CENPB 0 genome.wustl.edu 37 20 3766457 3766457 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 3766457 3766457 A G SNP CENPB ENST00000379751 human ensembl 74_37 -1 known missense c.674 p.L225P 0.945 pfam_DDE_SF_endonuclease_CENPB-like pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 162 0 0 67 6 8.21918 L3MBTL1 0 genome.wustl.edu 37 20 42161428 42161428 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 42161428 42161428 G T SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.1234 p.G412C 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 331 0 0 96 36 27.2727 ADRA1D 0 genome.wustl.edu 37 20 4229294 4229294 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 4229294 4229294 G A SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known missense c.311 p.A104V 0.981 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 43 0 0 14 4 22.2222 MMP9 0 genome.wustl.edu 37 20 44639956 44639956 + Splice_Site SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 44639956 44639956 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known splice_site c.823+1 e5+1 1.000 - - - no_errors MMP9 HGNC ENSG00000100985 123 0 0 45 17 27.4194 NCOA3 0 genome.wustl.edu 37 20 46279854 46279854 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 46279854 46279854 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3780 p.Q1260 0.884 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,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 NCOA3 HGNC ENSG00000124151 103 1 0.961538 51 10 16.3934 ARFGEF2 0 genome.wustl.edu 37 20 47567893 47567893 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 47567893 47567893 G A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.310 p.A104T 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 65 0 0 32 16 33.3333 PTGIS 0 genome.wustl.edu 37 20 48156225 48156225 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 48156225 48156225 C T SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known silent c.555 p.A185 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 38 0 0 9 6 40 ATP9A 0 genome.wustl.edu 37 20 50235243 50235243 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 50235243 50235243 G A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.2308 p.R770C 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 114 0 0 31 18 36.7347 MC3R 0 genome.wustl.edu 37 20 54824580 54824580 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 54824580 54824580 C T SNP MC3R ENST00000243911 human ensembl 74_37 +1 known silent c.681 p.A227 0.891 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Mcort_3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 91 0 0 46 27 36.9863 NPEPL1 0 genome.wustl.edu 37 20 57276158 57276158 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 57276158 57276158 G A SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.766 p.A256T 1.000 pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 27 0 0 3 2 40 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 181 0 0 72 61 45.8647 LAMA5 0 genome.wustl.edu 37 20 60909086 60909086 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 60909086 60909086 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.2749 p.V917M 0.990 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 76 0 0 17 4 19.0476 DIDO1 0 genome.wustl.edu 37 20 61525801 61525801 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 61525801 61525801 C A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.2536 p.A846S 0.975 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 143 0 0 35 19 35.1852 CHRNA4 0 genome.wustl.edu 37 20 61978135 61978135 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 61978135 61978135 C T SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known silent c.1839 p.G613 0.971 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 92 0 0 26 4 13.3333 MYT1 0 genome.wustl.edu 37 20 62838987 62838987 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 62838987 62838987 C T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.438 p.I146 0.625 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 310 0 0 79 38 32.4786 PLCB1 0 genome.wustl.edu 37 20 8698474 8698474 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 8698474 8698474 G A SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.1492 p.E498K 1.000 pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 87 0 0 34 15 30.6122 TPTE 0 genome.wustl.edu 37 21 10906876 10906876 + RNA SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 10906876 10906876 T C SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPTE HGNC ENSG00000166157 176 0 0 71 9 11.25 ADAMTS5 0 genome.wustl.edu 37 21 28337989 28337989 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 28337989 28337989 T A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.722 p.Q241L 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 19 0 0 11 5 31.25 RWDD2B 0 genome.wustl.edu 37 21 30380774 30380774 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 30380774 30380774 C T SNP RWDD2B ENST00000493196 human ensembl 74_37 -1 known missense c.236 p.R79Q 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2B HGNC ENSG00000156253 234 0 0 86 22 20.3704 KRTAP19-7 0 genome.wustl.edu 37 21 31933432 31933432 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 31933432 31933432 A C SNP KRTAP19-7 ENST00000334849 human ensembl 74_37 -1 known silent c.177 p.S59 0.029 NULL pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-7 HGNC ENSG00000244362 269 0 0 97 40 29.1971 KRTAP11-1 0 genome.wustl.edu 37 21 32253783 32253783 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 32253783 32253783 C T SNP KRTAP11-1 ENST00000332378 human ensembl 74_37 -1 known missense c.61 p.V21I 0.004 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 150 0 0 55 25 31.25 HUNK 0 genome.wustl.edu 37 21 33370838 33370838 + Splice_Site SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 33370838 33370838 G A SNP HUNK ENST00000270112 human ensembl 74_37 +1 known splice_site c.1487-1 e11-1 1.000 - - - no_errors HUNK HGNC ENSG00000142149 250 0 0 65 22 25.2874 SYNJ1 0 genome.wustl.edu 37 21 34012041 34012041 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 34012041 34012041 G A SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.3754 p.R1252W 1.000 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 89 0 0 36 5 12.1951 PAXBP1 0 genome.wustl.edu 37 21 34127549 34127549 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 34127549 34127549 C A SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known missense c.1499 p.S500I 1.000 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 83 0 0 47 18 27.6923 SLC5A3 0 genome.wustl.edu 37 21 35467627 35467627 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 35467627 35467627 C T SNP SLC5A3 ENST00000381151 human ensembl 74_37 +1 known missense c.130 p.R44C 1.000 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 SLC5A3 HGNC ENSG00000198743 259 1 0.384615 79 35 30.7018 DSCAM 0 genome.wustl.edu 37 21 41559141 41559141 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 41559141 41559141 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2696 p.R899H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 84 0 0 38 8 17.3913 RIPK4 0 genome.wustl.edu 37 21 43161712 43161712 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 43161712 43161712 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known silent c.1785 p.H595 0.965 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 86 0 0 40 18 31.0345 UMODL1 0 genome.wustl.edu 37 21 43496223 43496223 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 43496223 43496223 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.186 p.G62 0.645 pfam_EMI_domain,pfscan_EMI_domain 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 151 0 0 67 21 23.8636 C21orf128 0 genome.wustl.edu 37 21 43523941 43523941 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 43523941 43523941 C A SNP C21orf128 ENST00000329015 human ensembl 74_37 -1 putative missense c.292 p.V98F 0.000 NULL NULL - no_errors C21orf128 HGNC ENSG00000184385 83 0 0 39 3 7.14286 AIRE 0 genome.wustl.edu 37 21 45706903 45706903 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 45706903 45706903 C T SNP AIRE ENST00000291582 human ensembl 74_37 +1 known missense c.350 p.A117V 0.000 NULL pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC ENSG00000160224 182 0 0 34 8 19.0476 KRTAP10-2 0 genome.wustl.edu 37 21 45970648 45970648 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 45970648 45970648 A G SNP KRTAP10-2 ENST00000391621 human ensembl 74_37 -1 known missense c.694 p.S232P 0.959 NULL NULL - no_errors KRTAP10-2 HGNC ENSG00000205445 326 1 0.30581 111 6 5.12821 POFUT2 0 genome.wustl.edu 37 21 46685276 46685276 + RNA SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 46685276 46685276 C A SNP POFUT2 ENST00000471540 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POFUT2 HGNC ENSG00000186866 10 0 0 10 4 28.5714 COL18A1 0 genome.wustl.edu 37 21 46888235 46888235 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 21 46888235 46888235 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.1431 p.P477 0.973 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 213 0 0 62 20 24.3902 GAB4 0 genome.wustl.edu 37 22 17444669 17444669 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 17444669 17444669 C T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known silent c.1527 p.P509 0.099 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 89 0 0 22 11 33.3333 MICAL3 0 genome.wustl.edu 37 22 18387473 18387473 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 18387473 18387473 T C SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.397 p.T133A 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 353 0 0 136 54 28.4211 BMS1P20 0 genome.wustl.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 22664606 22664606 A G SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors BMS1P20 HGNC ENSG00000236850 36 0 0 30 3 9.09091 RTDR1 0 genome.wustl.edu 37 22 23406130 23406130 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 23406130 23406130 G A SNP RTDR1 ENST00000216036 human ensembl 74_37 -1 known silent c.603 p.S201 0.001 superfamily_ARM-type_fold pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 88 0 0 24 14 36.8421 MMP11 0 genome.wustl.edu 37 22 24124566 24124566 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 24124566 24124566 G A SNP MMP11 ENST00000215743 human ensembl 74_37 +1 known missense c.1229 p.R410H 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP11 HGNC ENSG00000099953 97 0 0 27 6 18.1818 CABIN1 0 genome.wustl.edu 37 22 24515545 24515545 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 24515545 24515545 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.4512 p.Q1504 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 203 0 0 58 43 42.5743 SNRPD3 0 genome.wustl.edu 37 22 24964106 24964106 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 24964106 24964106 G T SNP SNRPD3 ENST00000215829 human ensembl 74_37 +1 known missense c.281 p.G94V 0.997 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD3 HGNC ENSG00000100028 191 0 0 53 11 17.1875 MYO18B 0 genome.wustl.edu 37 22 26286802 26286802 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 26286802 26286802 C A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.4394 p.A1465E 1.000 superfamily_tRNA-bd_arm pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 76 0 0 19 4 17.3913 ASCC2 0 genome.wustl.edu 37 22 30189452 30189452 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 30189452 30189452 G A SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known missense c.1816 p.P606S 0.108 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 102 0 0 37 5 11.9048 GAL3ST1 0 genome.wustl.edu 37 22 30951991 30951991 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 30951991 30951991 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.221 p.P74L 0.997 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 175 0 0 55 21 27.6316 C1QTNF6 0 genome.wustl.edu 37 22 37581422 37581422 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 37581422 37581422 G T SNP C1QTNF6 ENST00000337843 human ensembl 74_37 -1 known missense c.125 p.P42H 0.750 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 37 0 0 12 11 47.8261 SSTR3 0 genome.wustl.edu 37 22 37602837 37602837 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 37602837 37602837 G A SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.1006 p.R336C 0.071 prints_Somatstn_rcpt_3 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 165 0 0 42 15 26.3158 CYTH4 0 genome.wustl.edu 37 22 37699399 37699399 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 37699399 37699399 C T SNP CYTH4 ENST00000248901 human ensembl 74_37 +1 known missense c.652 p.R218C 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 CYTH4 HGNC ENSG00000100055 122 0 0 20 8 28.5714 ELFN2 0 genome.wustl.edu 37 22 37769395 37769395 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 37769395 37769395 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.2180 p.R727H 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 73 0 0 8 10 55.5556 SUN2 0 genome.wustl.edu 37 22 39146966 39146966 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 39146966 39146966 G A SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known missense c.361 p.R121C 0.001 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 74 0 0 7 5 41.6667 MGAT3 0 genome.wustl.edu 37 22 39883815 39883815 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 39883815 39883815 G A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.463 p.A155T 0.000 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 13 0 0 2 3 60 ALG12 0 genome.wustl.edu 37 22 50304114 50304114 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 50304114 50304114 C T SNP ALG12 ENST00000330817 human ensembl 74_37 -1 known missense c.437 p.R146Q 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 111 0 0 18 17 48.5714 LMF2 0 genome.wustl.edu 37 22 50942825 50942825 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 50942825 50942825 G T SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known silent c.1662 p.P554 1.000 pfam_LMF pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 117 0 0 8 3 27.2727 CEP97 0 genome.wustl.edu 37 3 101445494 101445494 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 101445494 101445494 T C SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known missense c.100 p.C34R 0.974 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 84 0 0 32 17 34.6939 SEMA5B 0 genome.wustl.edu 37 3 122646705 122646705 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 122646705 122646705 G T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.944 p.A315D 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 122 0 0 51 21 29.1667 CCDC14 0 genome.wustl.edu 37 3 123667978 123667978 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 123667978 123667978 T C SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known silent c.498 p.S166 0.998 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 14 0 0 8 7 46.6667 KALRN 0 genome.wustl.edu 37 3 124281775 124281775 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 124281775 124281775 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5015 p.T1672M 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 52 0 0 20 6 23.0769 ROPN1B 0 genome.wustl.edu 37 3 125701213 125701213 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 125701213 125701213 C T SNP ROPN1B ENST00000251776 human ensembl 74_37 +1 known missense c.497 p.T166M 0.991 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC ENSG00000114547 174 0 0 53 26 32.9114 ALDH1L1 0 genome.wustl.edu 37 3 125844513 125844513 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 125844513 125844513 C T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known nonsense c.1746 p.W582* 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 156 0 0 47 14 22.9508 CHST13 0 genome.wustl.edu 37 3 126260961 126260961 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 126260961 126260961 C T SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known missense c.566 p.A189V 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 34 0 0 11 5 31.25 PLXNA1 0 genome.wustl.edu 37 3 126707619 126707619 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 126707619 126707619 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.183 p.G61 0.994 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 211 0 0 40 8 16.6667 GATA2 0 genome.wustl.edu 37 3 128200835 128200835 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 128200835 128200835 C T SNP GATA2 ENST00000489987 human ensembl 74_37 -1 known rna NULL NULL 0.450 - - - no_errors GATA2 HGNC ENSG00000179348 54 0 0 8 6 42.8571 ASTE1 0 genome.wustl.edu 37 3 130732962 130732962 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 130732962 130732962 C T SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.1979 p.R660Q 0.704 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 119 0 0 58 27 31.7647 EPHB1 0 genome.wustl.edu 37 3 134898742 134898742 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 134898742 134898742 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.1800 p.Y600 0.990 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 290 0 0 101 57 36.0759 ZBTB38 0 genome.wustl.edu 37 3 141164326 141164326 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 141164326 141164326 C T SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known silent c.3099 p.H1033 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 76 0 0 37 16 30.1887 MRPS25 0 genome.wustl.edu 37 3 15094033 15094033 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 15094033 15094033 T C SNP MRPS25 ENST00000253686 human ensembl 74_37 -1 known missense c.437 p.Q146R 1.000 NULL pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPS25 HGNC ENSG00000131368 599 1 0.166667 158 76 32.4786 SERPINI1 0 genome.wustl.edu 37 3 167507093 167507093 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 167507093 167507093 G C SNP SERPINI1 ENST00000295777 human ensembl 74_37 +1 known missense c.177 p.M59I 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 142 0 0 88 23 20.7207 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 141 0 0 84 36 30 KLHL24 0 genome.wustl.edu 37 3 183368863 183368863 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 183368863 183368863 C T SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.719 p.A240V 0.004 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 100 0 0 50 11 18.0328 PSMD2 0 genome.wustl.edu 37 3 184025728 184025728 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 184025728 184025728 C T SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known silent c.2349 p.S783 1.000 pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 150 0 0 45 29 39.1892 CHRD 0 genome.wustl.edu 37 3 184101309 184101309 + Splice_Site SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 184101309 184101309 A G SNP CHRD ENST00000204604 human ensembl 74_37 +1 known splice_site c.1321-2 e12-2 1.000 - - - no_errors CHRD HGNC ENSG00000090539 101 0 0 30 8 21.0526 ZNF385D 0 genome.wustl.edu 37 3 21462764 21462764 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 21462764 21462764 C T SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.1130 p.R377Q 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 56 0 0 17 8 32 NEK10 0 genome.wustl.edu 37 3 27183068 27183068 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 27183068 27183068 C T SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known missense c.952 p.A318T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 122 0 0 49 23 31.9444 NEK10 0 genome.wustl.edu 37 3 27346260 27346260 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 27346260 27346260 G A SNP NEK10 ENST00000341435 human ensembl 74_37 -1 known nonsense c.1006 p.Q336* 1.000 superfamily_ARM-type_fold 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 91 0 0 27 20 42.5532 CMTM7 0 genome.wustl.edu 37 3 32495741 32495741 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 32495741 32495741 G A SNP CMTM7 ENST00000334983 human ensembl 74_37 +1 known missense c.523 p.V175I 0.002 NULL pfam_Marvel - no_errors CMTM7 HGNC ENSG00000153551 113 0 0 24 14 36.8421 TRANK1 0 genome.wustl.edu 37 3 36898206 36898206 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 36898206 36898206 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.2875 p.E959K 0.357 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 369 0 0 124 69 35.7513 SCN10A 0 genome.wustl.edu 37 3 38768331 38768331 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 38768331 38768331 G T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.2853 p.L951 0.064 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 142 0 0 67 4 5.6338 CSRNP1 0 genome.wustl.edu 37 3 39188083 39188083 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 39188083 39188083 G A SNP CSRNP1 ENST00000273153 human ensembl 74_37 -1 known missense c.91 p.R31C 0.019 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP1 HGNC ENSG00000144655 16 0 0 3 3 50 SNRK 0 genome.wustl.edu 37 3 43389767 43389767 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 43389767 43389767 G T SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.2016 p.L672F 0.198 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 207 1 0.480769 62 16 20.5128 LIMD1 0 genome.wustl.edu 37 3 45637565 45637565 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 45637565 45637565 G A SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1194 p.E398 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 77 0 0 22 9 29.0323 LIMD1 0 genome.wustl.edu 37 3 45677682 45677682 + Silent SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 45677682 45677682 C G SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1449 p.G483 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 572 1 0.17452 202 40 16.5289 CCR3 0 genome.wustl.edu 37 3 46307111 46307111 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 46307111 46307111 C A SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.525 p.S175R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 118 0 0 65 37 36.2745 KLHL18 0 genome.wustl.edu 37 3 47378108 47378108 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 47378108 47378108 C T SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known missense c.982 p.R328C 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 110 0 0 32 18 36 NME6 0 genome.wustl.edu 37 3 48336688 48336688 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 48336688 48336688 C G SNP NME6 ENST00000421967 human ensembl 74_37 -1 known missense c.295 p.A99P 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME6 HGNC ENSG00000172113 75 0 0 27 6 18.1818 CELSR3 0 genome.wustl.edu 37 3 48698167 48698167 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 48698167 48698167 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.1901 p.T634M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 111 0 0 30 18 37.5 LAMB2 0 genome.wustl.edu 37 3 49166186 49166186 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 49166186 49166186 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.1798 p.V600M 0.999 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 229 0 0 51 23 31.0811 RNF123 0 genome.wustl.edu 37 3 49743092 49743092 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 49743092 49743092 G A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.2284 p.V762I 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 69 0 0 23 3 11.5385 GMPPB 0 genome.wustl.edu 37 3 49760467 49760467 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 49760467 49760467 C T SNP GMPPB ENST00000308375 human ensembl 74_37 -1 known missense c.340 p.D114N 1.000 pfam_NTP_transferase pfam_NTP_transferase,pfam_Hexapep_transf - no_errors GMPPB HGNC ENSG00000173540 120 1 0.826446 24 8 25 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 337 0 0 70 35 33.3333 MON1A 0 genome.wustl.edu 37 3 49949043 49949043 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 49949043 49949043 C A SNP MON1A ENST00000296473 human ensembl 74_37 -1 known missense c.820 p.A274S 1.000 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC ENSG00000164077 191 0 0 48 27 36 MON1A 0 genome.wustl.edu 37 3 49949063 49949063 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 49949063 49949063 G A SNP MON1A ENST00000296473 human ensembl 74_37 -1 known missense c.800 p.S267F 1.000 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC ENSG00000164077 195 0 0 45 24 34.7826 DNAH1 0 genome.wustl.edu 37 3 52418887 52418887 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 52418887 52418887 C A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.8408 p.T2803N 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 41 0 0 18 2 10 ITIH3 0 genome.wustl.edu 37 3 52838744 52838744 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 52838744 52838744 G A SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known missense c.1867 p.A623T 0.024 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 19 0 0 3 3 50 WNT5A 0 genome.wustl.edu 37 3 55513591 55513591 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 55513591 55513591 A G SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.142 p.S48P 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 385 1 0.259067 141 19 11.875 PTPRG 0 genome.wustl.edu 37 3 62189448 62189448 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 62189448 62189448 G T SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.1979 p.R660M 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 34 0 0 14 6 30 THOC7 0 genome.wustl.edu 37 3 63825431 63825431 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 63825431 63825431 C T SNP THOC7 ENST00000295899 human ensembl 74_37 -1 known missense c.38 p.R13H 1.000 pfam_THOC7/Mft1 pfam_THOC7/Mft1 - no_errors THOC7 HGNC ENSG00000163634 60 0 0 37 14 27.451 PDZRN3 0 genome.wustl.edu 37 3 73450150 73450150 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 73450150 73450150 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.1177 p.A393T 0.966 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 153 0 0 75 38 33.6283 ROBO1 0 genome.wustl.edu 37 3 78796020 78796020 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 78796020 78796020 G A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.530 p.S177L 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 ROBO1 HGNC ENSG00000169855 66 0 0 40 10 20 SSUH2 0 genome.wustl.edu 37 3 8669438 8669438 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 8669438 8669438 C T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.620 p.R207H 1.000 superfamily_HSP_DnaJ_Cys-rich_dom superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 90 0 0 30 15 33.3333 FILIP1L 0 genome.wustl.edu 37 3 99569681 99569681 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 99569681 99569681 C A SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.839 p.R280I 1.000 prints_Tropomyosin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 471 0 0 197 70 26.2172 LOC101929271 0 genome.wustl.edu 37 4 100212135 100212135 + RNA SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 100212135 100212135 A G SNP LOC101929271 ENST00000509939 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-696N14.1 Clone_based_vega_gene ENSG00000246090 135 0 0 88 27 23.4783 MANBA 0 genome.wustl.edu 37 4 103553381 103553381 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 103553381 103553381 C T SNP MANBA ENST00000226578 human ensembl 74_37 -1 known missense c.2473 p.A825T 0.996 NULL pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 183 0 0 86 21 19.6262 TET2 0 genome.wustl.edu 37 4 106157193 106157193 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 106157193 106157193 G T SNP TET2 ENST00000380013 human ensembl 74_37 +1 known silent c.2094 p.V698 0.001 NULL NULL - no_errors TET2 HGNC ENSG00000168769 167 0 0 105 31 22.7941 RNF212 0 genome.wustl.edu 37 4 1107259 1107259 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 1107259 1107259 C T SNP RNF212 ENST00000505730 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RNF212 HGNC ENSG00000178222 64 0 0 15 9 37.5 SPON2 0 genome.wustl.edu 37 4 1165659 1165659 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 1165659 1165659 C T SNP SPON2 ENST00000290902 human ensembl 74_37 -1 known silent c.201 p.A67 0.632 pfam_Spondin_N,pfscan_Spondin_N pfam_Spondin_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Spondin_N,pfscan_Thrombospondin_1_rpt - no_errors SPON2 HGNC ENSG00000159674 297 0 0 29 22 43.1373 TRAM1L1 0 genome.wustl.edu 37 4 118005713 118005713 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 118005713 118005713 C T SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known silent c.837 p.S279 0.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 103 0 0 84 18 17.6471 FAT4 0 genome.wustl.edu 37 4 126336826 126336826 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 126336826 126336826 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.6708 p.S2236 0.965 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 183 0 0 42 68 61.8182 INTU 0 genome.wustl.edu 37 4 128632225 128632225 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 128632225 128632225 C T SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.2527 p.R843C 0.996 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 67 0 0 18 26 59.0909 SMARCA5 0 genome.wustl.edu 37 4 144471250 144471250 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 144471250 144471250 A T SNP SMARCA5 ENST00000283131 human ensembl 74_37 +1 known missense c.3086 p.K1029M 1.000 NULL 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 31 0 0 16 6 27.2727 ZNF827 0 genome.wustl.edu 37 4 146824292 146824292 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 146824292 146824292 G A SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.119 p.P40L 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 175 0 0 85 24 22.0183 ARHGAP10 0 genome.wustl.edu 37 4 148744110 148744110 + Splice_Site SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 148744110 148744110 T C SNP ARHGAP10 ENST00000336498 human ensembl 74_37 +1 known splice_site c.312+2 e3+2 1.000 - - - no_errors ARHGAP10 HGNC ENSG00000071205 96 0 0 20 40 66.6667 PET112 0 genome.wustl.edu 37 4 152624954 152624954 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 152624954 152624954 C T SNP PET112 ENST00000512306 human ensembl 74_37 -1 putative silent c.1056 p.A352 0.000 NULL pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 80 0 0 16 37 69.8113 FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 275 0 0 150 56 27.1845 FHDC1 0 genome.wustl.edu 37 4 153881743 153881743 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 153881743 153881743 C T SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known silent c.690 p.G230 0.431 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 119 1 0.833333 23 45 66.1765 DCHS2 0 genome.wustl.edu 37 4 155312366 155312366 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 155312366 155312366 G T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.84 p.A28 0.001 NULL 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 41 0 0 11 14 56 FGFR3 0 genome.wustl.edu 37 4 1803616 1803616 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 1803616 1803616 C T SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known missense c.794 p.A265V 0.940 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 95 0 0 16 9 36 TRAPPC11 0 genome.wustl.edu 37 4 184589196 184589196 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 184589196 184589196 C T SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known silent c.486 p.C162 0.899 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 232 0 0 84 27 24.3243 WHSC1 0 genome.wustl.edu 37 4 1961359 1961359 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 1961359 1961359 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known silent c.3147 p.G1049 0.005 smart_AWS,pfscan_AWS pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 160 0 0 41 26 38.806 CCKAR 0 genome.wustl.edu 37 4 26483548 26483548 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 26483548 26483548 G A SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known silent c.999 p.N333 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 168 0 0 61 31 33.6957 PCDH7 0 genome.wustl.edu 37 4 30724440 30724440 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 30724440 30724440 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1396 p.V466M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 83 0 0 32 9 21.9512 TLR10 0 genome.wustl.edu 37 4 38776168 38776168 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 38776168 38776168 C T SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known silent c.1044 p.T348 0.000 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 135 1 0.735294 64 22 25.5814 SHISA3 0 genome.wustl.edu 37 4 42400102 42400102 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 42400102 42400102 T C SNP SHISA3 ENST00000319234 human ensembl 74_37 +1 known missense c.29 p.L10P 1.000 NULL NULL - no_errors SHISA3 HGNC ENSG00000178343 22 0 0 10 5 33.3333 ATP8A1 0 genome.wustl.edu 37 4 42581864 42581864 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 42581864 42581864 C T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known silent c.966 p.R322 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 97 0 0 29 11 27.5 SPATA18 0 genome.wustl.edu 37 4 52945919 52945919 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 52945919 52945919 C T SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known nonsense c.1189 p.R397* 1.000 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 339 0 0 147 64 30.3318 KDR 0 genome.wustl.edu 37 4 55968171 55968171 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 55968171 55968171 C T SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.2159 p.R720Q 0.991 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_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 200 0 0 92 33 26.4 C4orf50 0 genome.wustl.edu 37 4 5981913 5981913 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 5981913 5981913 C T SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known silent c.1578 p.E526 0.066 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 47 0 0 18 8 30.7692 JAKMIP1 0 genome.wustl.edu 37 4 6107634 6107634 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 6107634 6107634 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.190 p.R64W 0.996 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 96 0 0 31 10 24.3902 WFS1 0 genome.wustl.edu 37 4 6302499 6302499 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 6302499 6302499 C T SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.977 p.A326V 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 246 0 0 66 31 31.9588 PDE6B 0 genome.wustl.edu 37 4 656381 656381 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 656381 656381 C T SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known silent c.1806 p.R602 0.004 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 130 0 0 30 9 23.0769 UGT2B28 0 genome.wustl.edu 37 4 70148363 70148363 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 70148363 70148363 G A SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known missense c.853 p.A285T 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 377 0 0 183 42 18.6667 PCGF3 0 genome.wustl.edu 37 4 727625 727625 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 727625 727625 C G SNP PCGF3 ENST00000400151 human ensembl 74_37 +1 putative missense c.156 p.S52R 0.000 NULL NULL - no_errors PCGF3 HGNC ENSG00000185619 64 0 0 27 9 25 RASSF6 0 genome.wustl.edu 37 4 74442417 74442417 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 74442417 74442417 C T SNP RASSF6 ENST00000342081 human ensembl 74_37 -1 known silent c.849 p.P283 0.012 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF6 HGNC ENSG00000169435 417 0 0 153 37 19.4737 GAK 0 genome.wustl.edu 37 4 860221 860221 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 860221 860221 C T SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.2974 p.V992I 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 112 0 0 19 8 29.6296 PTPN13 0 genome.wustl.edu 37 4 87691302 87691302 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 87691302 87691302 C G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.4768 p.L1590V 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 41 0 0 24 7 22.5806 PDLIM5 0 genome.wustl.edu 37 4 95496845 95496845 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 95496845 95496845 G A SNP PDLIM5 ENST00000317968 human ensembl 74_37 +1 known missense c.370 p.A124T 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 249 0 0 161 56 25.8065 SLC12A7 0 genome.wustl.edu 37 5 1075484 1075484 + Splice_Site SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 1075484 1075484 A G SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known splice_site c.1967+2 e15+2 1.000 - - - no_errors SLC12A7 HGNC ENSG00000113504 103 0 0 26 11 29.7297 KCNN2 0 genome.wustl.edu 37 5 113798824 113798824 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 113798824 113798824 T G SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known silent c.1080 p.G360 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 249 0 0 123 45 26.7857 MEGF10 0 genome.wustl.edu 37 5 126746114 126746114 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 126746114 126746114 C T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known silent c.951 p.G317 0.002 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 70 0 0 29 7 19.4444 CHSY3 0 genome.wustl.edu 37 5 129244011 129244011 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 129244011 129244011 C T SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known silent c.1044 p.C348 0.998 pfam_Chond_GalNAc,pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 68 0 0 33 13 28.2609 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 262 0 0 59 44 42.7184 DNAH5 0 genome.wustl.edu 37 5 13781052 13781052 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 13781052 13781052 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.8837 p.R2946H 0.981 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 62 0 0 33 15 31.25 CTNNA1 0 genome.wustl.edu 37 5 138160446 138160446 + Silent SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 138160446 138160446 T A SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known silent c.816 p.G272 0.958 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 230 0 0 88 25 22.1239 SLC23A1 0 genome.wustl.edu 37 5 138718275 138718275 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 138718275 138718275 G T SNP SLC23A1 ENST00000353963 human ensembl 74_37 -1 known missense c.56 p.P19H 0.002 NULL pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 111 0 0 28 14 33.3333 ANKHD1 0 genome.wustl.edu 37 5 139876355 139876355 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 139876355 139876355 G A SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known silent c.2496 p.K832 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 216 0 0 79 22 21.7822 SLC35A4 0 genome.wustl.edu 37 5 139947624 139947624 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 139947624 139947624 C T SNP SLC35A4 ENST00000323146 human ensembl 74_37 +1 known silent c.870 p.N290 0.295 pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC ENSG00000176087 78 0 0 37 13 26 PCDHA4 0 genome.wustl.edu 37 5 140188676 140188676 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 140188676 140188676 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1904 p.R635H 0.912 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 236 0 0 59 41 41 PCDHA5 0 genome.wustl.edu 37 5 140202836 140202836 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 140202836 140202836 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1476 p.S492 0.996 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 PCDHA5 HGNC ENSG00000204965 234 0 0 71 29 29 PCDHA9 0 genome.wustl.edu 37 5 140229691 140229691 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 140229691 140229691 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1611 p.A537 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 361 0 0 89 45 33.5821 PCDHB6 0 genome.wustl.edu 37 5 140530024 140530024 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 140530024 140530024 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.186 p.G62 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 199 0 0 74 42 36.2069 PCDHGA4 0 genome.wustl.edu 37 5 140734826 140734826 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 140734826 140734826 T G SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.59 p.L20R 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 170 0 0 48 12 20 PCDHGB6 0 genome.wustl.edu 37 5 140789059 140789059 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 140789059 140789059 G A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known silent c.1290 p.P430 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 PCDHGB6 HGNC ENSG00000253305 160 0 0 41 20 32.7869 TRIO 0 genome.wustl.edu 37 5 14297342 14297342 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 14297342 14297342 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.1338 p.M446I 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 78 0 0 27 16 37.2093 TCOF1 0 genome.wustl.edu 37 5 149756083 149756083 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 149756083 149756083 C T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.2240 p.T747M 0.846 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 51 0 0 21 11 34.375 NDST1 0 genome.wustl.edu 37 5 149901098 149901098 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 149901098 149901098 G A SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.282 p.S94 0.043 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 205 0 0 68 33 32.6733 NDST1 0 genome.wustl.edu 37 5 149927851 149927851 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 149927851 149927851 C T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.2217 p.D739 0.068 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 127 0 0 31 9 22.5 FAT2 0 genome.wustl.edu 37 5 150932777 150932777 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 150932777 150932777 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.4117 p.V1373I 0.930 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 126 0 0 52 23 30.6667 FBXL7 0 genome.wustl.edu 37 5 15936821 15936821 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 15936821 15936821 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.1002 p.C334 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 35 0 0 13 6 31.5789 MARCH11 0 genome.wustl.edu 37 5 16067654 16067654 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 16067654 16067654 G A SNP MARCH11 ENST00000332432 human ensembl 74_37 -1 known missense c.1135 p.R379W 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH11 HGNC ENSG00000183654 322 0 0 111 57 33.9286 WWC1 0 genome.wustl.edu 37 5 167812251 167812251 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 167812251 167812251 C T SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.265 p.R89W 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 124 0 0 33 12 26.6667 SLIT3 0 genome.wustl.edu 37 5 168096822 168096822 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 168096822 168096822 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.4302 p.C1434 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom 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 86 0 0 32 10 23.8095 KCNIP1 0 genome.wustl.edu 37 5 169931586 169931586 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 169931586 169931586 G A SNP KCNIP1 ENST00000411494 human ensembl 74_37 +1 known missense c.10 p.V4I 1.000 NULL pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP1 HGNC ENSG00000182132 148 0 0 57 16 21.9178 STC2 0 genome.wustl.edu 37 5 172744927 172744927 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 172744927 172744927 C T SNP STC2 ENST00000265087 human ensembl 74_37 -1 known missense c.832 p.G278S 0.001 NULL pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 235 0 0 63 25 28.4091 HRH2 0 genome.wustl.edu 37 5 175110591 175110591 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 175110591 175110591 G A SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known missense c.355 p.A119T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 97 0 0 37 13 26 GPRIN1 0 genome.wustl.edu 37 5 176025084 176025084 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 176025084 176025084 C T SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known silent c.1752 p.P584 0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 252 0 0 67 32 32.3232 DOK3 0 genome.wustl.edu 37 5 176931829 176931829 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 176931829 176931829 T C SNP DOK3 ENST00000357198 human ensembl 74_37 -1 known missense c.728 p.D243G 0.948 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 118 0 0 27 10 27.027 ZFP2 0 genome.wustl.edu 37 5 178359583 178359583 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 178359583 178359583 A G SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known silent c.1269 p.S423 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 111 0 0 56 5 8.19672 GRM6 0 genome.wustl.edu 37 5 178413361 178413361 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 178413361 178413361 A C SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.1894 p.F632V 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 80 0 0 28 6 17.6471 ADAMTS2 0 genome.wustl.edu 37 5 178557042 178557042 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 178557042 178557042 G T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.2348 p.A783D 0.692 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 118 0 0 29 18 38.2979 ADAMTS2 0 genome.wustl.edu 37 5 178634558 178634558 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 178634558 178634558 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.847 p.G283R 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 324 0 0 78 31 28.4404 RUFY1 0 genome.wustl.edu 37 5 179036539 179036539 + RNA SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 179036539 179036539 A G SNP RUFY1 ENST00000508797 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RUFY1 HGNC ENSG00000176783 18 0 0 6 5 45.4545 GNB2L1 0 genome.wustl.edu 37 5 180664659 180664659 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 180664659 180664659 T C SNP GNB2L1 ENST00000512805 human ensembl 74_37 -1 known missense c.838 p.K280E 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,prints_G-protein_beta_WD-40_rep - no_errors GNB2L1 HGNC ENSG00000204628 189 0 0 42 23 35.3846 GUSBP1 0 genome.wustl.edu 37 5 21459625 21459625 + RNA SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 21459625 21459625 G C SNP GUSBP1 ENST00000508973 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GUSBP1 HGNC ENSG00000183666 239 0 0 61 15 19.7368 CDH10 0 genome.wustl.edu 37 5 24491847 24491847 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 24491847 24491847 C A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1714 p.D572Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 43 0 0 34 17 33.3333 IRX2 0 genome.wustl.edu 37 5 2749021 2749021 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 2749021 2749021 C T SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known silent c.801 p.E267 0.993 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 59 0 0 12 3 20 PDZD2 0 genome.wustl.edu 37 5 32088213 32088213 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 32088213 32088213 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known silent c.4659 p.G1553 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 142 0 0 64 23 26.4368 PDZD2 0 genome.wustl.edu 37 5 32089364 32089364 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 32089364 32089364 T C SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.5810 p.V1937A 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 179 0 0 56 24 30 RICTOR 0 genome.wustl.edu 37 5 38958851 38958851 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 38958851 38958851 A G SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.2261 p.L754S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 101 0 0 54 15 21.7391 ADAMTS16 0 genome.wustl.edu 37 5 5232558 5232558 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 5232558 5232558 T G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known silent c.1779 p.S593 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_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 185 0 0 68 36 34.6154 HSPB3 0 genome.wustl.edu 37 5 53751772 53751772 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 53751772 53751772 G A SNP HSPB3 ENST00000302005 human ensembl 74_37 +1 known silent c.153 p.A51 0.000 superfamily_HSP20-like_chaperone pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB3 HGNC ENSG00000169271 135 0 0 70 4 5.40541 IL31RA 0 genome.wustl.edu 37 5 55203251 55203251 + Silent SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 55203251 55203251 C G SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known silent c.1317 p.G439 0.538 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 92 0 0 38 5 11.6279 MAP3K1 0 genome.wustl.edu 37 5 56177584 56177584 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 56177584 56177584 C T SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.2557 p.R853C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 158 0 0 70 28 28.5714 MAP1B 0 genome.wustl.edu 37 5 71495988 71495988 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 71495988 71495988 C A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.6806 p.A2269E 0.943 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 304 0 0 114 43 27.3885 ADCY2 0 genome.wustl.edu 37 5 7520977 7520977 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 7520977 7520977 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.535 p.A179T 0.006 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 120 0 0 64 22 25.5814 F2RL2 0 genome.wustl.edu 37 5 75913544 75913544 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 75913544 75913544 A T SNP F2RL2 ENST00000296641 human ensembl 74_37 -1 known missense c.988 p.Y330N 0.021 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_Protea_act_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL2 HGNC ENSG00000164220 73 0 0 36 17 32.0755 CMYA5 0 genome.wustl.edu 37 5 79027051 79027051 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 79027051 79027051 A G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.2463 p.Q821 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 190 0 0 43 22 33.8462 THBS4 0 genome.wustl.edu 37 5 79355673 79355673 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 79355673 79355673 G T SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.932 p.G311V 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 330 0 0 110 39 26.1745 RASGRF2 0 genome.wustl.edu 37 5 80363869 80363869 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 80363869 80363869 T C SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known silent c.414 p.I138 0.969 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 RASGRF2 HGNC ENSG00000113319 118 0 0 70 31 30.6931 RASGRF2 0 genome.wustl.edu 37 5 80382675 80382675 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 80382675 80382675 C T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known silent c.1293 p.S431 0.998 superfamily_DH-domain 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 RASGRF2 HGNC ENSG00000113319 67 0 0 31 14 31.1111 SIM1 0 genome.wustl.edu 37 6 100895166 100895166 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 100895166 100895166 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.976 p.V326I 1.000 pfam_PAS_fold_3,superfamily_PAS,smart_PAC pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 88 0 0 17 9 34.6154 BEND3 0 genome.wustl.edu 37 6 107391957 107391957 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 107391957 107391957 C T SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known silent c.438 p.S146 0.000 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 261 0 0 84 34 28.8136 FOXO3 0 genome.wustl.edu 37 6 108985003 108985003 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 108985003 108985003 C T SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.967 p.R323C 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 75 0 0 46 3 6.12245 SLC16A10 0 genome.wustl.edu 37 6 111498611 111498611 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 111498611 111498611 G T SNP SLC16A10 ENST00000368851 human ensembl 74_37 +1 known missense c.685 p.G229C 0.996 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 103 0 0 59 16 21.3333 NKAIN2 0 genome.wustl.edu 37 6 124125394 124125394 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 124125394 124125394 C T SNP NKAIN2 ENST00000368417 human ensembl 74_37 +1 known nonsense c.49 p.Q17* 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 195 0 0 56 24 30 TMEM244 0 genome.wustl.edu 37 6 130164727 130164727 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 130164727 130164727 C A SNP TMEM244 ENST00000368143 human ensembl 74_37 -1 known silent c.141 p.L47 1.000 pfam_Integral_membrane_SYS1-rel pfam_Integral_membrane_SYS1-rel - no_errors TMEM244 HGNC ENSG00000203756 243 0 0 80 36 31.0345 ENSG00000231329 0 genome.wustl.edu 37 6 139487278 139487278 + RNA SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 139487278 139487278 T C SNP ENSG00000231329 ENST00000588529 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors RP1-225E12.2 Clone_based_vega_gene ENSG00000231329 20 0 0 12 4 25 PLAGL1 0 genome.wustl.edu 37 6 144269239 144269239 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 144269239 144269239 G A SNP PLAGL1 ENST00000354765 human ensembl 74_37 -1 known missense c.35 p.T12M 0.014 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL1 HGNC ENSG00000118495 65 0 0 38 12 24 SHPRH 0 genome.wustl.edu 37 6 146256278 146256278 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 146256278 146256278 C T SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.2755 p.E919K 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 61 0 0 39 11 22 UST 0 genome.wustl.edu 37 6 149285691 149285691 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 149285691 149285691 C T SNP UST ENST00000367463 human ensembl 74_37 +1 known missense c.673 p.R225C 1.000 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 90 0 0 29 8 21.6216 AKAP12 0 genome.wustl.edu 37 6 151674332 151674332 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 151674332 151674332 G A SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known silent c.4806 p.Q1602 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 91 0 0 40 18 31.0345 CCDC170 0 genome.wustl.edu 37 6 151857472 151857472 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 151857472 151857472 C T SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.77 p.S26L 0.462 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 136 0 0 40 23 36.5079 IPCEF1 0 genome.wustl.edu 37 6 154542444 154542444 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 154542444 154542444 A G SNP IPCEF1 ENST00000367220 human ensembl 74_37 -1 known silent c.339 p.H113 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 86 0 0 31 11 26.1905 EZR 0 genome.wustl.edu 37 6 159206516 159206516 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 159206516 159206516 T C SNP EZR ENST00000337147 human ensembl 74_37 -1 known missense c.292 p.T98A 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors EZR HGNC ENSG00000092820 129 0 0 42 28 40 FNDC1 0 genome.wustl.edu 37 6 159655397 159655397 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 159655397 159655397 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.3853 p.A1285T 0.845 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 59 0 0 25 6 19.3548 SLC22A2 0 genome.wustl.edu 37 6 160679635 160679635 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 160679635 160679635 C T SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known missense c.155 p.R52Q 0.970 pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 162 0 0 49 21 30 MLLT4 0 genome.wustl.edu 37 6 168352841 168352841 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 168352841 168352841 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.4786 p.R1596C 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 286 0 0 77 38 33.0435 THBS2 0 genome.wustl.edu 37 6 169622298 169622298 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 169622298 169622298 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.3267 p.P1089 0.124 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 146 0 0 47 26 35.6164 TBP 0 genome.wustl.edu 37 6 170871061 170871061 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 170871061 170871061 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.237 p.Q79 0.988 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 73 0 0 30 3 9.09091 ALDH5A1 0 genome.wustl.edu 37 6 24520684 24520684 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 24520684 24520684 G A SNP ALDH5A1 ENST00000348925 human ensembl 74_37 +1 known missense c.965 p.G322D 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ENSG00000112294 222 0 0 38 38 50 HIST1H1A 0 genome.wustl.edu 37 6 26017792 26017792 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 26017792 26017792 G A SNP HIST1H1A ENST00000244573 human ensembl 74_37 -1 known missense c.169 p.R57C 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 134 0 0 53 4 7.01754 NKAPL 0 genome.wustl.edu 37 6 28228207 28228207 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 28228207 28228207 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known missense c.1058 p.R353Q 0.996 pfam_DUF926 pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 193 0 0 92 31 25.2033 PGBD1 0 genome.wustl.edu 37 6 28269950 28269950 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 28269950 28269950 T C SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known silent c.2319 p.N773 0.982 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 106 0 0 45 19 29.6875 OR2W1 0 genome.wustl.edu 37 6 29012665 29012665 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 29012665 29012665 A C SNP OR2W1 ENST00000377175 human ensembl 74_37 -1 known silent c.288 p.G96 0.608 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W1 HGNC ENSG00000204704 68 0 0 54 18 25 OR2H2 0 genome.wustl.edu 37 6 29556131 29556131 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 29556131 29556131 G A SNP OR2H2 ENST00000383640 human ensembl 74_37 +1 known missense c.410 p.R137H 0.023 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H2 HGNC ENSG00000204657 197 0 0 85 39 31.4516 HLA-F 0 genome.wustl.edu 37 6 29692855 29692855 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 29692855 29692855 G A SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known missense c.658 p.A220T 0.870 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 136 0 0 45 11 19.6429 TRIM10 0 genome.wustl.edu 37 6 30121852 30121852 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 30121852 30121852 G A SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known missense c.1340 p.A447V 0.773 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 73 0 0 32 13 28.8889 HLA-L 0 genome.wustl.edu 37 6 30227710 30227710 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 30227710 30227710 C T SNP HLA-L ENST00000463348 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-L HGNC ENSG00000243753 64 0 0 24 8 25 ABCF1 0 genome.wustl.edu 37 6 30550906 30550906 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 30550906 30550906 G A SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.856 p.V286M 0.997 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 206 0 0 72 31 30.0971 ABCF1 0 genome.wustl.edu 37 6 30552049 30552049 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 30552049 30552049 C T SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.1183 p.R395W 0.068 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 141 0 0 42 24 36.3636 TCF19 0 genome.wustl.edu 37 6 31127272 31127272 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 31127272 31127272 G A SNP TCF19 ENST00000376255 human ensembl 74_37 +1 known missense c.26 p.R9H 1.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 11 0 0 6 4 40 MICB 0 genome.wustl.edu 37 6 31474171 31474171 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 31474171 31474171 C T SNP MICB ENST00000252229 human ensembl 74_37 +1 known nonsense c.577 p.R193* 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICB HGNC ENSG00000204516 87 0 0 41 3 6.81818 PRRC2A 0 genome.wustl.edu 37 6 31599904 31599904 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 31599904 31599904 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.3454 p.R1152C 0.969 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 137 0 0 36 15 29.4118 PRRC2A 0 genome.wustl.edu 37 6 31600251 31600251 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 31600251 31600251 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.3801 p.A1267 0.916 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 211 0 0 41 21 33.871 PRRC2A 0 genome.wustl.edu 37 6 31600727 31600727 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 31600727 31600727 G C SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.4277 p.G1426A 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 55 0 0 24 7 22.5806 PRRC2A 0 genome.wustl.edu 37 6 31602658 31602658 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 31602658 31602658 A G SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.5064 p.G1688 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 157 0 0 59 14 19.1781 ABHD16A 0 genome.wustl.edu 37 6 31655422 31655422 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 31655422 31655422 C T SNP ABHD16A ENST00000395952 human ensembl 74_37 -1 known missense c.1543 p.V515M 1.000 NULL pfam_AB_hydrolase_1 - no_errors ABHD16A HGNC ENSG00000204427 105 0 0 39 19 32.7586 TNXB 0 genome.wustl.edu 37 6 32023769 32023769 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 32023769 32023769 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8326 p.R2776W 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 130 0 0 43 12 21.8182 B3GALT4 0 genome.wustl.edu 37 6 33246260 33246260 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 33246260 33246260 C T SNP B3GALT4 ENST00000451237 human ensembl 74_37 +1 known missense c.1064 p.A355V 0.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 377 0 0 80 33 29.2035 RGL2 0 genome.wustl.edu 37 6 33264042 33264042 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 33264042 33264042 C G SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known missense c.531 p.E177D 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 369 0 0 97 25 20.4918 KIFC1 0 genome.wustl.edu 37 6 33371779 33371779 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 33371779 33371779 G A SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known missense c.629 p.R210H 0.044 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 281 0 0 67 27 28.7234 ITPR3 0 genome.wustl.edu 37 6 33653429 33653429 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 33653429 33653429 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.5492 p.A1831V 0.959 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 79 0 0 28 16 36.3636 SLC26A8 0 genome.wustl.edu 37 6 35967813 35967813 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 35967813 35967813 G A SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.401 p.S134L 0.979 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 279 1 0.357143 97 32 24.8062 DNAH8 0 genome.wustl.edu 37 6 38759438 38759438 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 38759438 38759438 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.2238 p.L746 0.980 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 78 0 0 32 13 28.8889 DAAM2 0 genome.wustl.edu 37 6 39869799 39869799 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 39869799 39869799 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.3193 p.R1065W 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 79 0 0 23 5 17.8571 TFEB 0 genome.wustl.edu 37 6 41652368 41652368 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 41652368 41652368 C A SNP TFEB ENST00000230323 human ensembl 74_37 -1 known missense c.1400 p.S467I 1.000 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEB HGNC ENSG00000112561 163 0 0 43 5 10.4167 MED20 0 genome.wustl.edu 37 6 41877053 41877053 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 41877053 41877053 A G SNP MED20 ENST00000265350 human ensembl 74_37 -1 known missense c.377 p.V126A 1.000 pfam_Mediator_Med20 pfam_Mediator_Med20 - no_errors MED20 HGNC ENSG00000124641 204 0 0 72 29 28.7129 TAF8 0 genome.wustl.edu 37 6 42023690 42023690 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 42023690 42023690 G A SNP TAF8 ENST00000372982 human ensembl 74_37 +1 known missense c.302 p.G101D 1.000 pfam_BTP,superfamily_Histone-fold,smart_BTP pfam_BTP,pfam_TFIID_su8_C,superfamily_Histone-fold,smart_BTP - no_errors TAF8 HGNC ENSG00000137413 110 0 0 27 11 28.9474 ABCC10 0 genome.wustl.edu 37 6 43412000 43412000 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 43412000 43412000 C T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known silent c.2598 p.G866 0.022 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 91 0 0 29 5 14.7059 GTPBP2 0 genome.wustl.edu 37 6 43589437 43589437 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 43589437 43589437 G A SNP GTPBP2 ENST00000307126 human ensembl 74_37 -1 known missense c.1723 p.R575W 1.000 superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 193 0 0 58 32 35.5556 SUPT3H 0 genome.wustl.edu 37 6 44922295 44922295 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 44922295 44922295 C A SNP SUPT3H ENST00000371460 human ensembl 74_37 -1 known missense c.663 p.E221D 1.000 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 138 0 0 57 27 32.1429 DST 0 genome.wustl.edu 37 6 56374631 56374631 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 56374631 56374631 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.18728 p.R6243H 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 84 0 0 45 8 15.0943 DST 0 genome.wustl.edu 37 6 56470972 56470972 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 56470972 56470972 A G SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.8355 p.G2785 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 16 0 0 17 4 19.0476 BAI3 0 genome.wustl.edu 37 6 69772890 69772890 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 69772890 69772890 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2398 p.D800N 0.998 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 134 0 0 53 13 19.697 IBTK 0 genome.wustl.edu 37 6 82909923 82909923 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 82909923 82909923 C T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.2960 p.R987H 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 252 0 0 136 52 27.6596 HTR1E 0 genome.wustl.edu 37 6 87725581 87725581 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 87725581 87725581 C T SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.529 p.H177Y 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_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 170 0 0 47 30 38.961 ORC3 0 genome.wustl.edu 37 6 88318943 88318943 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 88318943 88318943 A G SNP ORC3 ENST00000257789 human ensembl 74_37 +1 known missense c.709 p.S237G 1.000 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 111 0 0 57 31 35.2273 BACH2 0 genome.wustl.edu 37 6 90661243 90661243 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 90661243 90661243 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known silent c.582 p.A194 0.002 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 134 0 0 53 22 29.3333 EPHA7 0 genome.wustl.edu 37 6 93956681 93956681 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 93956681 93956681 C T SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2555 p.G852D 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 EPHA7 HGNC ENSG00000135333 58 0 0 37 15 28.8462 GIGYF1 0 genome.wustl.edu 37 7 100279976 100279976 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 100279976 100279976 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known silent c.2730 p.L910 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 94 0 0 27 16 37.2093 LRRC17 0 genome.wustl.edu 37 7 102574941 102574941 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 102574941 102574941 G C SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known missense c.581 p.S194T 0.287 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 157 0 0 80 22 21.5686 SLC26A5 0 genome.wustl.edu 37 7 103018957 103018957 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 103018957 103018957 G A SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.1721 p.A574V 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 203 0 0 102 25 19.685 SRPK2 0 genome.wustl.edu 37 7 104766779 104766779 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 104766779 104766779 C T SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.1831 p.A611T 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK2 HGNC ENSG00000135250 158 0 0 55 11 16.6667 RNF148 0 genome.wustl.edu 37 7 122342670 122342670 + Silent SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 122342670 122342670 T A SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known silent c.135 p.T45 0.676 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 64 0 0 35 18 33.9623 GRM8 0 genome.wustl.edu 37 7 126079102 126079102 + RNA SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 126079102 126079102 A T SNP GRM8 ENST00000489939 human ensembl 74_37 -1 known rna NULL NULL 0.680 - - - no_errors GRM8 HGNC ENSG00000179603 93 0 0 36 20 35.7143 LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 144 0 0 45 17 27.4194 SND1 0 genome.wustl.edu 37 7 127729669 127729669 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 127729669 127729669 C T SNP SND1 ENST00000354725 human ensembl 74_37 +1 known silent c.2547 p.G849 0.409 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 127 0 0 38 13 25.4902 FLNC 0 genome.wustl.edu 37 7 128495311 128495311 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 128495311 128495311 G T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.7194 p.V2398 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 270 0 0 52 31 37.3494 FLNC 0 genome.wustl.edu 37 7 128497221 128497221 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 128497221 128497221 C A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.7611 p.A2537 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 413 1 0.241546 73 46 38.6555 PLXNA4 0 genome.wustl.edu 37 7 131865401 131865401 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 131865401 131865401 A T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.3583 p.S1195T 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 83 0 0 30 9 23.0769 AKR1B10 0 genome.wustl.edu 37 7 134215432 134215432 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 134215432 134215432 C T SNP AKR1B10 ENST00000359579 human ensembl 74_37 +1 known missense c.104 p.A35V 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 AKR1B10 HGNC ENSG00000198074 175 0 0 60 30 33.3333 ETV1 0 genome.wustl.edu 37 7 13949284 13949284 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 13949284 13949284 T G SNP ETV1 ENST00000405218 human ensembl 74_37 -1 known missense c.913 p.T305P 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 217 0 0 76 25 24.7525 CTAGE4 0 genome.wustl.edu 37 7 143882922 143882922 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 143882922 143882922 A G SNP CTAGE4 ENST00000486333 human ensembl 74_37 +1 known missense c.2326 p.T776A 0.311 NULL superfamily_tRNA-bd_arm - no_errors CTAGE4 HGNC ENSG00000225932 20 0 0 23 5 17.8571 CNTNAP2 0 genome.wustl.edu 37 7 147675067 147675067 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 147675067 147675067 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2369 p.R790H 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 91 0 0 27 20 42.5532 ZNF862 0 genome.wustl.edu 37 7 149558011 149558011 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 149558011 149558011 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.1762 p.V588M 0.983 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 54 0 0 14 9 39.1304 ASB10 0 genome.wustl.edu 37 7 150873302 150873302 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 150873302 150873302 C T SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.1436 p.R479H 0.995 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C 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 92 0 0 24 9 27.2727 KMT2C 0 genome.wustl.edu 37 7 151917681 151917681 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 151917681 151917681 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.3639 p.S1213 0.994 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 79 0 0 39 16 29.0909 HTR5A 0 genome.wustl.edu 37 7 154863212 154863212 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 154863212 154863212 C T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known silent c.603 p.A201 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 82 0 0 28 5 15.1515 MAD1L1 0 genome.wustl.edu 37 7 2255800 2255800 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 2255800 2255800 C T SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known silent c.801 p.A267 0.000 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 178 0 0 51 39 43.3333 HOXA9 0 genome.wustl.edu 37 7 27203381 27203381 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 27203381 27203381 T A SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known missense c.660 p.E220D 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom 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 208 0 0 68 19 21.8391 CCDC129 0 genome.wustl.edu 37 7 31683217 31683217 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 31683217 31683217 G A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.2311 p.A771T 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 152 0 0 60 18 23.0769 NPC1L1 0 genome.wustl.edu 37 7 44555406 44555406 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 44555406 44555406 G A SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known silent c.3873 p.Y1291 0.939 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 128 0 0 31 15 32.6087 ABCA13 0 genome.wustl.edu 37 7 48431646 48431646 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 48431646 48431646 A G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.11783 p.D3928G 0.016 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 112 0 0 43 17 28.3333 TNRC18 0 genome.wustl.edu 37 7 5352370 5352370 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 5352370 5352370 C A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.8152 p.G2718C 0.376 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 51 0 0 14 7 33.3333 TNRC18 0 genome.wustl.edu 37 7 5401291 5401291 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 5401291 5401291 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.4595 p.R1532Q 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 15 0 0 3 2 40 FBXL18 0 genome.wustl.edu 37 7 5540810 5540810 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 5540810 5540810 G A SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known missense c.1090 p.R364C 0.986 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 75 0 0 20 13 39.3939 ZNF479 0 genome.wustl.edu 37 7 57188817 57188817 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 57188817 57188817 C T SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.305 p.G102D 0.013 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 ZNF479 HGNC ENSG00000185177 181 0 0 59 29 32.9545 ZNF107 0 genome.wustl.edu 37 7 64167492 64167492 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 64167492 64167492 A G SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known silent c.810 p.K270 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 110 0 0 41 20 32.7869 DAGLB 0 genome.wustl.edu 37 7 6464452 6464452 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 6464452 6464452 C T SNP DAGLB ENST00000454738 human ensembl 74_37 -1 known missense c.512 p.R171H 0.719 NULL NULL - no_errors DAGLB HGNC ENSG00000164535 117 0 0 36 26 41.9355 WBSCR17 0 genome.wustl.edu 37 7 70800582 70800582 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 70800582 70800582 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.285 p.G95 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 112 1 0.884956 37 22 37.2881 TYW1B 0 genome.wustl.edu 37 7 72267523 72267523 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 72267523 72267523 G A SNP TYW1B ENST00000438904 human ensembl 74_37 -1 known silent c.738 p.F246 0.650 NULL pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1B HGNC ENSG00000254184 127 0 0 72 4 5.26316 HIP1 0 genome.wustl.edu 37 7 75183785 75183785 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 75183785 75183785 G A SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known silent c.2004 p.I668 0.149 NULL pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 106 0 0 40 7 14.8936 GLCCI1 0 genome.wustl.edu 37 7 8043675 8043675 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 8043675 8043675 G T SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known missense c.595 p.D199Y 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 137 0 0 56 30 34.8837 GTPBP10 0 genome.wustl.edu 37 7 89984426 89984426 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 89984426 89984426 A T SNP GTPBP10 ENST00000222511 human ensembl 74_37 +1 known missense c.346 p.I116F 0.621 pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain - no_errors GTPBP10 HGNC ENSG00000105793 136 0 0 73 31 29.8077 MTERF 0 genome.wustl.edu 37 7 91503062 91503062 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 91503062 91503062 G T SNP MTERF ENST00000351870 human ensembl 74_37 -1 known missense c.1046 p.P349H 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 97 0 0 58 19 24.6753 BAIAP2L1 0 genome.wustl.edu 37 7 97946561 97946561 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 97946561 97946561 G A SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known silent c.456 p.N152 0.993 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 BAIAP2L1 HGNC ENSG00000006453 323 0 0 99 41 29.2857 VPS13B 0 genome.wustl.edu 37 8 100287380 100287380 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 100287380 100287380 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.2722 p.K908E 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 138 1 0.719424 97 25 20.4918 RNF19A 0 genome.wustl.edu 37 8 101271170 101271170 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 101271170 101271170 G T SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known missense c.2131 p.P711T 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 227 0 0 172 48 21.8182 DCAF13 0 genome.wustl.edu 37 8 104432506 104432506 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 104432506 104432506 G T SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.541 p.D181Y 1.000 superfamily_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 76 0 0 64 14 17.9487 RIMS2 0 genome.wustl.edu 37 8 105105702 105105702 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 105105702 105105702 C T SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel nonsense c.2725 p.R909* 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 222 0 0 116 33 22.1477 LRP12 0 genome.wustl.edu 37 8 105509814 105509814 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 105509814 105509814 C A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.909 p.E303D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 92 0 0 80 21 20.7921 SLC35G5 0 genome.wustl.edu 37 8 11188791 11188791 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 11188791 11188791 G A SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.176 p.R59H 0.999 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 231 1 0.431034 76 23 23.2323 FAM167A 0 genome.wustl.edu 37 8 11282136 11282136 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 11282136 11282136 G A SNP FAM167A ENST00000284486 human ensembl 74_37 -1 known missense c.391 p.R131W 1.000 pfam_FAM167 pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 54 0 0 12 6 33.3333 SLC30A8 0 genome.wustl.edu 37 8 118170071 118170071 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 118170071 118170071 C T SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.560 p.A187V 0.946 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 147 1 0.675676 87 21 19.4444 MED30 0 genome.wustl.edu 37 8 118540959 118540959 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 118540959 118540959 C T SNP MED30 ENST00000297347 human ensembl 74_37 +1 known missense c.247 p.R83C 1.000 pfam_Mediator_Med30_met pfam_Mediator_Med30_met - no_errors MED30 HGNC ENSG00000164758 185 0 0 115 34 22.8188 ENSG00000245330 0 genome.wustl.edu 37 8 120886318 120886318 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 120886318 120886318 C T SNP ENSG00000245330 ENST00000500705 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KB-1471A8.1 Clone_based_vega_gene ENSG00000245330 18 0 0 24 7 22.5806 MTBP 0 genome.wustl.edu 37 8 121463538 121463538 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 121463538 121463538 G A SNP MTBP ENST00000305949 human ensembl 74_37 +1 known missense c.401 p.S134N 1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 73 0 0 46 20 30.303 ATAD2 0 genome.wustl.edu 37 8 124361578 124361578 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 124361578 124361578 G A SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known nonsense c.1753 p.R585* 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 164 0 0 115 31 21.2329 RNF139 0 genome.wustl.edu 37 8 125499067 125499067 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 125499067 125499067 C T SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known silent c.1177 p.L393 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 490 0 0 337 101 23.0594 ZNF572 0 genome.wustl.edu 37 8 125989004 125989004 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 125989004 125989004 G A SNP ZNF572 ENST00000319286 human ensembl 74_37 +1 known missense c.494 p.C165Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 167 0 0 77 33 30 DLC1 0 genome.wustl.edu 37 8 12956978 12956978 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 12956978 12956978 G A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.2868 p.N956 0.196 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 122 0 0 42 16 27.5862 ADCY8 0 genome.wustl.edu 37 8 131848643 131848643 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 131848643 131848643 C A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2555 p.R852L 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 110 0 0 68 9 11.6883 DENND3 0 genome.wustl.edu 37 8 142186754 142186754 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 142186754 142186754 C T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.2360 p.A787V 0.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 155 0 0 72 5 6.49351 CYP11B2 0 genome.wustl.edu 37 8 143995763 143995763 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 143995763 143995763 C T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.871 p.A291T 0.998 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 69 0 0 27 7 20.5882 LY6E 0 genome.wustl.edu 37 8 144103156 144103156 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 144103156 144103156 G A SNP LY6E ENST00000292494 human ensembl 74_37 +1 known missense c.346 p.A116T 0.005 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6E HGNC ENSG00000160932 225 0 0 75 17 18.4783 C8orf31 0 genome.wustl.edu 37 8 144126111 144126111 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 144126111 144126111 G A SNP C8orf31 ENST00000395172 human ensembl 74_37 +1 known missense c.232 p.A78T 0.000 NULL NULL - no_errors C8orf31 HGNC ENSG00000177335 129 0 0 30 17 36.1702 NRBP2 0 genome.wustl.edu 37 8 144919465 144919465 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 144919465 144919465 C T SNP NRBP2 ENST00000327830 human ensembl 74_37 -1 known silent c.354 p.S118 0.313 NULL superfamily_Kinase-like_dom - no_errors NRBP2 HGNC ENSG00000185189 55 0 0 17 9 34.6154 PLEC 0 genome.wustl.edu 37 8 144993912 144993912 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 144993912 144993912 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.10488 p.G3496 0.996 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 116 0 0 41 19 31.6667 PLEC 0 genome.wustl.edu 37 8 144996889 144996889 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 144996889 144996889 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.7619 p.A2540V 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 47 0 0 27 10 27.027 PLEC 0 genome.wustl.edu 37 8 145002109 145002109 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 145002109 145002109 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.3723 p.V1241 0.995 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 41 0 0 7 4 36.3636 SPATC1 0 genome.wustl.edu 37 8 145094927 145094927 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 145094927 145094927 C T SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known missense c.329 p.P110L 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 155 0 0 40 10 20 OPLAH 0 genome.wustl.edu 37 8 145113410 145113410 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 145113410 145113410 C A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.772 p.G258C 1.000 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 87 0 0 17 4 19.0476 OPLAH 0 genome.wustl.edu 37 8 145113453 145113453 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 145113453 145113453 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.729 p.P243 0.513 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 110 0 0 33 6 15.3846 VPS28 0 genome.wustl.edu 37 8 145649444 145649444 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 145649444 145649444 G A SNP VPS28 ENST00000377348 human ensembl 74_37 -1 known silent c.528 p.G176 0.960 pfam_VPS28,pirsf_VPS28 pfam_VPS28,pirsf_VPS28 - no_errors VPS28 HGNC ENSG00000160948 234 0 0 73 24 24.7423 CYHR1 0 genome.wustl.edu 37 8 145689777 145689777 + Silent SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 145689777 145689777 G C SNP CYHR1 ENST00000306145 human ensembl 74_37 -1 known silent c.312 p.G104 0.858 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 276 1 0.361011 87 23 20.9091 LRRC24 0 genome.wustl.edu 37 8 145747941 145747941 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 145747941 145747941 G A SNP LRRC24 ENST00000529415 human ensembl 74_37 -1 known missense c.1460 p.A487V 0.000 NULL pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC24 HGNC ENSG00000254402 12 0 0 6 3 33.3333 CLN8 0 genome.wustl.edu 37 8 1728804 1728804 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 1728804 1728804 G A SNP CLN8 ENST00000519254 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors CLN8 HGNC ENSG00000182372 46 0 0 18 6 25 ADRA1A 0 genome.wustl.edu 37 8 26627887 26627887 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 26627887 26627887 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.1180 p.V394I 1.000 prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 240 0 0 85 39 31.4516 HMBOX1 0 genome.wustl.edu 37 8 28827712 28827712 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 28827712 28827712 A G SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known missense c.176 p.D59G 1.000 pfam_HNF-1_N pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 107 0 0 58 29 33.3333 CSMD1 0 genome.wustl.edu 37 8 3611465 3611465 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 3611465 3611465 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known silent c.918 p.N306 0.644 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 71 0 0 22 12 35.2941 ERLIN2 0 genome.wustl.edu 37 8 37607921 37607921 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 37607921 37607921 A G SNP ERLIN2 ENST00000276461 human ensembl 74_37 +1 known missense c.566 p.E189G 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors ERLIN2 HGNC ENSG00000147475 95 0 0 32 4 11.1111 ADAM32 0 genome.wustl.edu 37 8 39022629 39022629 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 39022629 39022629 T C SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known silent c.747 p.G249 0.999 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 106 0 0 58 16 21.6216 ANK1 0 genome.wustl.edu 37 8 41530179 41530179 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 41530179 41530179 C A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.4789 p.G1597C 0.996 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 301 0 0 70 32 31.3725 DKK4 0 genome.wustl.edu 37 8 42231818 42231818 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 42231818 42231818 G A SNP DKK4 ENST00000220812 human ensembl 74_37 -1 known missense c.475 p.R159C 1.000 pfam_Prokineticin_domain pfam_Dickkopf_N,pfam_Prokineticin_domain - no_errors DKK4 HGNC ENSG00000104371 183 0 0 55 37 40.2174 SPIDR 0 genome.wustl.edu 37 8 48353071 48353071 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 48353071 48353071 G A SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.1064 p.R355H 0.000 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 98 0 0 41 8 16.3265 PXDNL 0 genome.wustl.edu 37 8 52258393 52258393 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 52258393 52258393 C G SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.4016 p.R1339T 0.384 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 49 0 0 35 9 20.4545 TERF1 0 genome.wustl.edu 37 8 73942591 73942591 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 73942591 73942591 C T SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known missense c.908 p.A303V 0.018 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 28 0 0 23 8 25.8065 FAM86B3P 0 genome.wustl.edu 37 8 8098874 8098874 + RNA SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 8098874 8098874 A G SNP FAM86B3P ENST00000310542 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors FAM86B3P HGNC ENSG00000173295 70 0 0 27 5 15.625 ZBTB10 0 genome.wustl.edu 37 8 81399898 81399898 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 81399898 81399898 G A SNP ZBTB10 ENST00000430430 human ensembl 74_37 +1 known missense c.853 p.V285M 0.976 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 70 0 0 30 11 26.8293 MFHAS1 0 genome.wustl.edu 37 8 8749608 8749608 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 8749608 8749608 G A SNP MFHAS1 ENST00000276282 human ensembl 74_37 -1 known missense c.961 p.L321F 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 116 0 0 35 10 22.2222 RUNX1T1 0 genome.wustl.edu 37 8 93074929 93074929 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 93074929 93074929 C T SNP RUNX1T1 ENST00000517493 human ensembl 74_37 -1 known missense c.97 p.A33T 1.000 NULL NULL - no_errors RUNX1T1 HGNC ENSG00000079102 47 0 0 34 11 24.4444 GDF6 0 genome.wustl.edu 37 8 97156923 97156923 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 97156923 97156923 G A SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known silent c.1236 p.P412 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 58 0 0 24 7 22.5806 MATN2 0 genome.wustl.edu 37 8 98943442 98943442 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 98943442 98943442 T G SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.404 p.M135R 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 63 0 0 19 12 38.7097 TRIM14 0 genome.wustl.edu 37 9 100857274 100857274 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 100857274 100857274 A G SNP TRIM14 ENST00000341469 human ensembl 74_37 -1 known missense c.575 p.M192T 0.994 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM14 HGNC ENSG00000106785 161 0 0 58 18 23.6842 COL15A1 0 genome.wustl.edu 37 9 101829281 101829281 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 101829281 101829281 C A SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.3769 p.H1257N 0.995 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 180 0 0 69 20 22.4719 TEX10 0 genome.wustl.edu 37 9 103090122 103090122 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 103090122 103090122 C T SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known missense c.1748 p.R583Q 1.000 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 119 0 0 62 9 12.6761 GRIN3A 0 genome.wustl.edu 37 9 104335629 104335629 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 104335629 104335629 G A SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.3175 p.R1059W 0.930 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 149 0 0 102 25 19.685 GRIN3A 0 genome.wustl.edu 37 9 104499831 104499831 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 104499831 104499831 T C SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.431 p.Y144C 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 92 0 0 44 7 13.7255 OR13C5 0 genome.wustl.edu 37 9 107360934 107360934 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 107360934 107360934 G A SNP OR13C5 ENST00000374779 human ensembl 74_37 -1 known missense c.761 p.T254I 0.210 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C5 HGNC ENSG00000255800 124 0 0 90 19 17.4312 ZNF462 0 genome.wustl.edu 37 9 109689449 109689449 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 109689449 109689449 G T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.3256 p.G1086C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 93 0 0 88 22 20 SVEP1 0 genome.wustl.edu 37 9 113242031 113242031 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 113242031 113242031 G T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.2371 p.R791S 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 298 0 0 224 37 14.1762 SLC46A2 0 genome.wustl.edu 37 9 115642093 115642093 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 115642093 115642093 C A SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known silent c.1377 p.V459 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 194 0 0 108 24 18.1818 TNC 0 genome.wustl.edu 37 9 117849317 117849317 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 117849317 117849317 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.693 p.C231 0.908 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 141 0 0 74 24 24.4898 BRINP1 0 genome.wustl.edu 37 9 121971175 121971175 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 121971175 121971175 G T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.967 p.L323M 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 110 0 0 57 18 24 CNTRL 0 genome.wustl.edu 37 9 123860802 123860802 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 123860802 123860802 C T SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.760 p.P254S 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 97 0 0 67 20 22.9885 GSN 0 genome.wustl.edu 37 9 124089067 124089067 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 124089067 124089067 C T SNP GSN ENST00000373806 human ensembl 74_37 +1 putative silent c.12 p.D4 0.000 smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 46 0 0 22 7 24.1379 RABGAP1 0 genome.wustl.edu 37 9 125836582 125836582 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 125836582 125836582 T C SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.2128 p.Y710H 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 88 0 0 90 18 16.6667 DENND1A 0 genome.wustl.edu 37 9 126202750 126202750 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 126202750 126202750 G A SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known silent c.1281 p.C427 0.065 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 122 0 0 53 9 14.5161 TYRP1 0 genome.wustl.edu 37 9 12695537 12695537 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 12695537 12695537 A G SNP TYRP1 ENST00000388918 human ensembl 74_37 +1 known silent c.408 p.L136 0.979 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 140 0 0 61 31 33.6957 NEK6 0 genome.wustl.edu 37 9 127101923 127101923 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 127101923 127101923 C T SNP NEK6 ENST00000373600 human ensembl 74_37 +1 known silent c.798 p.S266 0.993 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 274 0 0 137 37 21.2644 RABEPK 0 genome.wustl.edu 37 9 127982924 127982924 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 127982924 127982924 C T SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known silent c.471 p.G157 0.008 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 135 0 0 44 22 33.3333 MVB12B 0 genome.wustl.edu 37 9 129243476 129243476 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 129243476 129243476 C T SNP MVB12B ENST00000485886 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MVB12B HGNC ENSG00000196814 17 0 0 21 6 22.2222 GOLGA2 0 genome.wustl.edu 37 9 131028142 131028142 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 131028142 131028142 C A SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.670 p.G224W 0.994 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 150 0 0 80 28 25.9259 SPTAN1 0 genome.wustl.edu 37 9 131395598 131395598 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 131395598 131395598 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.7419 p.S2473 0.940 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 189 0 0 65 24 26.9663 PKN3 0 genome.wustl.edu 37 9 131476529 131476529 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 131476529 131476529 C T SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known missense c.1366 p.R456C 1.000 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 332 0 0 157 38 19.4872 FAM73B 0 genome.wustl.edu 37 9 131825895 131825895 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 131825895 131825895 G A SNP FAM73B ENST00000358369 human ensembl 74_37 +1 known missense c.1155 p.M385I 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 173 0 0 59 21 26.25 RAPGEF1 0 genome.wustl.edu 37 9 134501510 134501510 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 134501510 134501510 G A SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known nonsense c.1504 p.Q502* 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 61 0 0 30 5 14.2857 TTF1 0 genome.wustl.edu 37 9 135277575 135277575 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 135277575 135277575 C T SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.634 p.A212T 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 119 0 0 53 16 23.1884 SLC2A6 0 genome.wustl.edu 37 9 136340541 136340541 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 136340541 136340541 T G SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known missense c.755 p.Q252P 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 76 0 0 25 8 24.2424 FCN2 0 genome.wustl.edu 37 9 137778363 137778363 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 137778363 137778363 C T SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known missense c.647 p.A216V 0.000 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,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 341 0 0 105 25 19.2308 SNAPC4 0 genome.wustl.edu 37 9 139272627 139272627 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 139272627 139272627 G C SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.3652 p.P1218A 0.002 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 48 0 0 16 5 23.8095 SNAPC4 0 genome.wustl.edu 37 9 139272628 139272628 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 139272628 139272628 C T SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known silent c.3651 p.E1217 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 49 0 0 16 5 23.8095 FAM69B 0 genome.wustl.edu 37 9 139617657 139617657 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 139617657 139617657 G A SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known missense c.727 p.A243T 0.002 pfam_FAM69_kinase_dom pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 232 0 0 68 11 13.9241 SNHG7 0 genome.wustl.edu 37 9 139621117 139621117 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 139621117 139621117 G A SNP SNHG7 ENST00000447221 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG7 HGNC ENSG00000233016 44 0 0 8 5 38.4615 CBWD1 0 genome.wustl.edu 37 9 163985 163985 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 163985 163985 A G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known silent c.483 p.Y161 0.999 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 361 3 0.824176 245 40 14.0351 BNC2 0 genome.wustl.edu 37 9 16435703 16435703 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 16435703 16435703 G T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2489 p.P830Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 101 0 0 53 11 17.1875 ENSG00000231909 0 genome.wustl.edu 37 9 19461326 19461326 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 19461326 19461326 G A SNP ENSG00000231909 ENST00000438342 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-363E7.3 Clone_based_vega_gene ENSG00000231909 32 0 0 7 10 58.8235 ZBTB5 0 genome.wustl.edu 37 9 37441517 37441517 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 37441517 37441517 G A SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known silent c.1032 p.S344 0.950 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 150 0 0 64 30 31.9149 CD274 0 genome.wustl.edu 37 9 5457282 5457282 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 5457282 5457282 C T SNP CD274 ENST00000381577 human ensembl 74_37 +1 known missense c.256 p.R86W 0.019 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD274 HGNC ENSG00000120217 67 0 0 36 18 33.3333 APBA1 0 genome.wustl.edu 37 9 72082835 72082835 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 72082835 72082835 G A SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known silent c.1386 p.A462 0.447 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom 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 482 0 0 200 43 17.6955 TRPM3 0 genome.wustl.edu 37 9 73152148 73152148 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 73152148 73152148 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.3926 p.R1309H 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 136 0 0 87 23 20.9091 C9orf85 0 genome.wustl.edu 37 9 74526748 74526748 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 74526748 74526748 C T SNP C9orf85 ENST00000377031 human ensembl 74_37 +1 known missense c.98 p.T33I 1.000 pfam_DUF2039 pfam_DUF2039 - no_errors C9orf85 HGNC ENSG00000155621 219 0 0 105 22 17.3228 PRUNE2 0 genome.wustl.edu 37 9 79324975 79324975 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 79324975 79324975 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.1138 p.P380S 0.001 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 57 0 0 38 8 17.3913 PRUNE2 0 genome.wustl.edu 37 9 79469039 79469039 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 79469039 79469039 T C SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel missense c.122 p.Y41C 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 76 0 0 40 15 27.2727 DMRT1 0 genome.wustl.edu 37 9 841907 841907 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 841907 841907 G A SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known silent c.69 p.P23 0.951 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 44 0 0 21 6 22.2222 SHC3 0 genome.wustl.edu 37 9 91656996 91656996 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 91656996 91656996 C A SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known missense c.1305 p.W435C 0.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 125 0 0 79 22 21.7822 SECISBP2 0 genome.wustl.edu 37 9 91964783 91964783 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 91964783 91964783 G A SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known missense c.1831 p.A611T 0.012 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 169 0 0 76 20 20.8333 ANKRD19P 0 genome.wustl.edu 37 9 95599082 95599082 + RNA SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 95599082 95599082 C T SNP ANKRD19P ENST00000464387 human ensembl 74_37 +1 known rna NULL NULL 0.032 - - - no_errors ANKRD19P HGNC ENSG00000187984 106 0 0 41 3 6.81818 FGD3 0 genome.wustl.edu 37 9 95738953 95738953 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 95738953 95738953 A G SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.415 p.T139A 0.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 64 0 0 24 5 17.2414 ZNF169 0 genome.wustl.edu 37 9 97063569 97063569 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 97063569 97063569 C T SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.1729 p.R577C 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 110 0 0 43 17 28.3333 PTCH1 0 genome.wustl.edu 37 9 98209385 98209385 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 98209385 98209385 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.4153 p.P1385S 0.882 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 125 0 0 72 14 16.2791 NXF2B 0 genome.wustl.edu 37 X 101623733 101623733 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 101623733 101623733 T G SNP NXF2B ENST00000372749 human ensembl 74_37 -1 known missense c.629 p.K210T 0.001 NULL pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2B HGNC ENSG00000185945 107 0 0 50 7 12.2807 GPRASP1 0 genome.wustl.edu 37 X 101909850 101909850 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 101909850 101909850 C T SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known nonsense c.1009 p.R337* 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 149 0 0 48 16 25 RGAG1 0 genome.wustl.edu 37 X 109695155 109695155 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 109695155 109695155 T C SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known missense c.1310 p.M437T 0.003 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 224 0 0 39 70 64.2202 ENSG00000230159 0 genome.wustl.edu 37 X 115826963 115826963 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 115826963 115826963 G A SNP ENSG00000230159 ENST00000446495 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-232D9.3 Clone_based_vega_gene ENSG00000230159 41 0 0 9 12 57.1429 UPF3B 0 genome.wustl.edu 37 X 118971950 118971950 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 118971950 118971950 G A SNP UPF3B ENST00000276201 human ensembl 74_37 -1 known missense c.1072 p.R358C 0.969 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 198 1 0.502513 31 48 60.7595 STAG2 0 genome.wustl.edu 37 X 123196991 123196991 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 123196991 123196991 C G SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.1757 p.T586S 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 29 0 0 12 10 45.4545 TENM1 0 genome.wustl.edu 37 X 123680890 123680890 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 123680890 123680890 A T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.2485 p.Y829N 0.975 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 82 0 0 35 8 18.6047 ELF4 0 genome.wustl.edu 37 X 129201300 129201300 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 129201300 129201300 A G SNP ELF4 ENST00000308167 human ensembl 74_37 -1 known missense c.1388 p.F463S 0.999 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 105 0 0 15 18 54.5455 ASMTL 0 genome.wustl.edu 37 X 1536899 1536899 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 1536899 1536899 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.1489 p.G497R 0.038 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 119 0 0 30 8 21.0526 G6PD 0 genome.wustl.edu 37 X 153762671 153762671 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 153762671 153762671 C T SNP G6PD ENST00000369620 human ensembl 74_37 -1 known missense c.526 p.D176N 0.999 pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 86 0 0 15 14 48.2759 IKBKG 0 genome.wustl.edu 37 X 153770626 153770626 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 153770626 153770626 C T SNP IKBKG ENST00000369609 human ensembl 74_37 +1 putative missense c.148 p.R50C 0.000 NULL pfam_NEMO_N - no_errors IKBKG HGNC ENSG00000073009 56 0 0 5 3 37.5 MPP1 0 genome.wustl.edu 37 X 154020565 154020565 + RNA SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 154020565 154020565 C A SNP MPP1 ENST00000488694 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MPP1 HGNC ENSG00000130830 61 0 0 22 14 38.8889 KLHL34 0 genome.wustl.edu 37 X 21675778 21675778 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 21675778 21675778 G T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known missense c.129 p.H43Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 25 0 0 3 6 66.6667 ACOT9 0 genome.wustl.edu 37 X 23740851 23740851 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 23740851 23740851 G A SNP ACOT9 ENST00000379303 human ensembl 74_37 -1 known silent c.420 p.H140 1.000 NULL pfam_Thioestr_supf - no_errors ACOT9 HGNC ENSG00000123130 168 0 0 26 35 57.377 GK-AS1 0 genome.wustl.edu 37 X 30742187 30742187 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 30742187 30742187 G A SNP GK-AS1 ENST00000464659 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GK-AS1 HGNC ENSG00000243055 15 0 0 3 4 57.1429 NDUFB11 0 genome.wustl.edu 37 X 47001792 47001792 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 47001792 47001792 C T SNP NDUFB11 ENST00000276062 human ensembl 74_37 -1 known missense c.416 p.R139Q 1.000 pfam_NADH_UbQ_OxRdtase_ESSS_su pfam_NADH_UbQ_OxRdtase_ESSS_su - no_errors NDUFB11 HGNC ENSG00000147123 56 0 0 8 11 57.8947 WAS 0 genome.wustl.edu 37 X 48544502 48544502 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 48544502 48544502 C T SNP WAS ENST00000376701 human ensembl 74_37 +1 known missense c.538 p.H180Y 0.585 NULL pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WAS HGNC ENSG00000015285 56 0 0 10 15 60 HSD17B10 0 genome.wustl.edu 37 X 53458328 53458328 + RNA SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 53458328 53458328 G A SNP HSD17B10 ENST00000477706 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HSD17B10 HGNC ENSG00000072506 18 0 0 12 7 36.8421 ALAS2 0 genome.wustl.edu 37 X 55040074 55040074 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 55040074 55040074 T G SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.1445 p.N482T 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 36 0 0 21 3 12.5 SHOX 0 genome.wustl.edu 37 X 595436 595436 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 595436 595436 C A SNP SHOX ENST00000381578 human ensembl 74_37 +1 known missense c.361 p.R121S 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 89 0 0 16 5 23.8095 VSIG4 0 genome.wustl.edu 37 X 65259784 65259784 + Splice_Site SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 65259784 65259784 A G SNP VSIG4 ENST00000374737 human ensembl 74_37 -1 known splice_site c.55+2 e1+2 1.000 - - - no_errors VSIG4 HGNC ENSG00000155659 37 0 0 7 10 58.8235 OPHN1 0 genome.wustl.edu 37 X 67273626 67273626 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 67273626 67273626 G A SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.2185 p.R729W 0.997 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 34 0 0 9 6 40 SLC7A3 0 genome.wustl.edu 37 X 70147375 70147375 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 70147375 70147375 C T SNP SLC7A3 ENST00000298085 human ensembl 74_37 -1 known missense c.1142 p.R381H 0.928 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 32 0 0 6 10 62.5 PHKA1 0 genome.wustl.edu 37 X 71801013 71801013 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 71801013 71801013 C T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.3562 p.A1188T 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 51 0 0 20 5 20 UTY 0 genome.wustl.edu 37 Y 15522892 15522892 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f Y 15522892 15522892 T C SNP UTY ENST00000382896 human ensembl 74_37 -1 known missense c.536 p.D179G 1.000 pfscan_TPR-contain_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UTY HGNC ENSG00000183878 67 0 0 10 15 60 PRAMEF14 0 genome.wustl.edu 37 1 13668962 13668962 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 13668962 13668962 G - DEL PRAMEF14 ENST00000344998 human ensembl 74_37 -1 known frame_shift_del c.1224 p.C409fs 0.050 NULL NULL - no_errors PRAMEF14 HGNC ENSG00000204481 202 0 0 85 5 5.55556 VPS45 0 genome.wustl.edu 37 1 150082564 150082565 + RNA DEL TT TT - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 150082564 150082565 TT - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors VPS45 HGNC ENSG00000136631 24 0 0 9 4 30.7692 GON4L 0 genome.wustl.edu 37 1 155785777 155785777 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 155785777 155785777 A - DEL GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GON4L HGNC ENSG00000116580 11 0 0 8 5 38.4615 OR10Z1 0 genome.wustl.edu 37 1 158576757 158576757 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 158576757 158576757 T - DEL OR10Z1 ENST00000361284 human ensembl 74_37 +1 known frame_shift_del c.529 p.C179fs 0.950 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 OR10Z1 HGNC ENSG00000198967 194 1 0.512821 169 28 14.2132 RPL31P11 0 genome.wustl.edu 37 1 161654572 161654572 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 161654572 161654572 T - DEL RPL31P11 ENST00000426558 human ensembl 74_37 -1 known rna NULL NULL 0.150 - - - no_errors RPL31P11 HGNC ENSG00000213075 13 0 0 8 8 50 KIFAP3 0 genome.wustl.edu 37 1 170024447 170024447 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 170024447 170024447 T - DEL KIFAP3 ENST00000361580 human ensembl 74_37 -1 known frame_shift_del c.163 p.I55fs 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 70 0 0 35 42 54.5455 RNASEL 0 genome.wustl.edu 37 1 182545526 182545527 + Splice_Site INS - - AA TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 182545526 182545527 - AA INS RNASEL ENST00000367559 human ensembl 74_37 -1 known splice_site_ins c.1906-3_1906-2 e5-2 0.956:0.341 - - - no_errors RNASEL HGNC ENSG00000135828 14 0 0 16 19 54.2857 IVNS1ABP 0 genome.wustl.edu 37 1 185277956 185277957 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 185277956 185277957 - T INS IVNS1ABP ENST00000367498 human ensembl 74_37 -1 known frame_shift_ins c.333_332 p.L112fs 1.000:1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 203 0 0 151 21 12.2093 LEMD1 0 genome.wustl.edu 37 1 205388453 205388453 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 205388453 205388453 T - DEL LEMD1 ENST00000367153 human ensembl 74_37 -1 known frame_shift_del c.110 p.K37fs 0.981 pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD1 HGNC ENSG00000186007 265 0 0 98 54 35.5263 CENPF 0 genome.wustl.edu 37 1 214830653 214830653 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 214830653 214830653 A - DEL CENPF ENST00000366955 human ensembl 74_37 +1 known frame_shift_del c.8863 p.S2957fs 1.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 95 0 0 62 14 18.4211 KCTD3 0 genome.wustl.edu 37 1 215747171 215747171 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 215747171 215747171 T - DEL KCTD3 ENST00000259154 human ensembl 74_37 +1 known frame_shift_del c.126 p.S45fs 0.199 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 164 1 0.606061 170 27 13.7056 USP48 0 genome.wustl.edu 37 1 22033386 22033387 + Frame_Shift_Del DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 22033386 22033387 AA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975_1974 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 70 0 0 35 24 40.678 MIA3 0 genome.wustl.edu 37 1 222802632 222802633 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 222802632 222802633 - T INS MIA3 ENST00000344441 human ensembl 74_37 +1 known frame_shift_ins c.2070_2071 p.H692fs 0.000:0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 211 0 0 111 30 21.2766 KIF26B 0 genome.wustl.edu 37 1 245849479 245849479 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 245849479 245849479 C - DEL KIF26B ENST00000407071 human ensembl 74_37 +1 known frame_shift_del c.3194 p.R1067fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 87 0 0 46 11 19.2982 OR2W5 0 genome.wustl.edu 37 1 247654684 247654684 + RNA DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 247654684 247654684 G - DEL OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors OR2W5 HGNC ENSG00000203664 141 0 0 62 42 40.3846 OR2C3 0 genome.wustl.edu 37 1 247695356 247695356 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 247695356 247695356 C - DEL OR2C3 ENST00000366487 human ensembl 74_37 -1 known frame_shift_del c.458 p.G153fs 0.532 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 57 0 0 23 6 20.6897 PHACTR4 0 genome.wustl.edu 37 1 28800273 28800273 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 28800273 28800273 C - DEL PHACTR4 ENST00000373836 human ensembl 74_37 +1 known frame_shift_del c.1061 p.P356fs 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 525 0 0 167 65 28.0172 ZBTB8OS 0 genome.wustl.edu 37 1 33087368 33087368 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 33087368 33087368 A - DEL ZBTB8OS ENST00000373506 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors ZBTB8OS HGNC ENSG00000176261 14 0 0 13 4 23.5294 AGO1 0 genome.wustl.edu 37 1 36354044 36354045 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 36354044 36354045 - C INS AGO1 ENST00000373204 human ensembl 74_37 +1 known frame_shift_ins c.42_43 p.L16fs 1.000:1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 191 0 0 62 20 24.3902 THRAP3 0 genome.wustl.edu 37 1 36762331 36762332 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 36762331 36762332 - A INS THRAP3 ENST00000354618 human ensembl 74_37 +1 known frame_shift_ins c.2263_2264 p.T757fs 1.000:1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 223 0 0 55 19 25.6757 GRIK3 0 genome.wustl.edu 37 1 37315787 37315787 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 37315787 37315787 A - DEL GRIK3 ENST00000479620 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GRIK3 HGNC ENSG00000163873 11 0 0 5 5 50 FHL3 0 genome.wustl.edu 37 1 38462977 38462977 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 38462977 38462977 T - DEL FHL3 ENST00000475084 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FHL3 HGNC ENSG00000183386 85 0 0 9 19 67.8571 FHL3 0 genome.wustl.edu 37 1 38465063 38465064 + Frame_Shift_Del DEL CA CA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 38465063 38465064 CA - DEL FHL3 ENST00000373016 human ensembl 74_37 -1 known frame_shift_del c.22_21 p.A8fs 1.000:1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL3 HGNC ENSG00000183386 103 0 0 34 12 26.087 PPIEL 0 genome.wustl.edu 37 1 40011509 40011509 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 40011509 40011509 T - DEL PPIEL ENST00000440190 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-69E11.4 Clone_based_vega_gene ENSG00000182109 49 0 0 15 4 21.0526 ZFP69 0 genome.wustl.edu 37 1 40945114 40945114 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 40945114 40945114 G - DEL ZFP69 ENST00000372705 human ensembl 74_37 +1 known frame_shift_del c.81 p.A29fs 0.667 superfamily_Retrov_capsid_C pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 93 0 0 33 12 26.6667 DMRTB1 0 genome.wustl.edu 37 1 53930351 53930353 + In_Frame_Del DEL GCC GCC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 53930351 53930353 GCC - DEL DMRTB1 ENST00000371445 human ensembl 74_37 +1 known in_frame_del c.792_794 p.P268in_frame_del 0.001:0.809:0.780 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 123 1 0.806452 36 8 18.1818 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 102 0 0 58 14 19.4444 ITGB3BP 0 genome.wustl.edu 37 1 63912547 63912547 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 63912547 63912547 T - DEL ITGB3BP ENST00000492655 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ITGB3BP HGNC ENSG00000142856 91 0 0 32 22 40.7407 EVI5 0 genome.wustl.edu 37 1 93159366 93159366 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 1 93159366 93159366 T - DEL EVI5 ENST00000543509 human ensembl 74_37 -1 known frame_shift_del c.1222 p.M408fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 187 1 0.531915 92 28 23.3333 ITPRIP 0 genome.wustl.edu 37 10 106075480 106075480 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 106075480 106075480 C - DEL ITPRIP ENST00000278071 human ensembl 74_37 -1 known frame_shift_del c.330 p.S112fs 0.000 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 311 0 0 78 11 12.3596 SLC18A2 0 genome.wustl.edu 37 10 119014792 119014792 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 119014792 119014792 C - DEL SLC18A2 ENST00000298472 human ensembl 74_37 +1 known frame_shift_del c.705 p.F238fs 0.136 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 SLC18A2 HGNC ENSG00000165646 102 0 0 36 14 28 PHYH 0 genome.wustl.edu 37 10 13325835 13325835 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 13325835 13325835 C - DEL PHYH ENST00000263038 human ensembl 74_37 -1 known frame_shift_del c.683 p.G228fs 0.987 pfam_Phytyl_CoA_dOase pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 798 0 0 265 62 18.9602 TUBGCP2 0 genome.wustl.edu 37 10 135093332 135093332 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 135093332 135093332 G - DEL TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known frame_shift_del c.2731 p.Q911fs 0.463 NULL pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 31 0 0 5 3 37.5 TUBGCP2 0 genome.wustl.edu 37 10 135111566 135111566 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 135111566 135111566 T - DEL TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known frame_shift_del c.506 p.N169fs 0.998 NULL pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 133 1 0.746269 39 16 29.0909 APBB1IP 0 genome.wustl.edu 37 10 26851119 26851120 + RNA INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 26851119 26851120 - T INS APBB1IP ENST00000493857 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors APBB1IP HGNC ENSG00000077420 38 0 0 31 13 29.5455 ZNF248 0 genome.wustl.edu 37 10 38121593 38121593 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 38121593 38121593 A - DEL ZNF248 ENST00000357328 human ensembl 74_37 -1 known frame_shift_del c.690 p.F230fs 0.003 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 ZNF248 HGNC ENSG00000198105 94 0 0 62 26 29.5455 DIP2C 0 genome.wustl.edu 37 10 395273 395273 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 395273 395273 G - DEL DIP2C ENST00000280886 human ensembl 74_37 -1 known frame_shift_del c.3107 p.P1036fs 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 80 0 0 42 8 16 DIP2C 0 genome.wustl.edu 37 10 468915 468915 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 468915 468915 G - DEL DIP2C ENST00000280886 human ensembl 74_37 -1 known frame_shift_del c.453 p.T152fs 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 278 0 0 97 30 23.622 MAPK8 0 genome.wustl.edu 37 10 49618297 49618297 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 49618297 49618297 T - DEL MAPK8 ENST00000476134 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MAPK8 HGNC ENSG00000107643 56 0 0 30 17 36.1702 NET1 0 genome.wustl.edu 37 10 5495005 5495005 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 5495005 5495005 T - DEL NET1 ENST00000465087 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NET1 HGNC ENSG00000173848 21 0 0 13 5 27.7778 FRA10AC1 0 genome.wustl.edu 37 10 95445078 95445079 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 95445078 95445079 - T INS FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known frame_shift_ins c.550_549 p.E183fs 1.000:1.000 pfam_Folate-sensitive_fs_Fra10Ac1 pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 199 0 0 124 29 18.9542 CC2D2B 0 genome.wustl.edu 37 10 97779061 97779061 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 10 97779061 97779061 A - DEL CC2D2B ENST00000410012 human ensembl 74_37 +1 known frame_shift_del c.624 p.S210fs 1.000 NULL NULL - no_errors CC2D2B HGNC ENSG00000188649 148 0 0 63 25 28.4091 PDGFD 0 genome.wustl.edu 37 11 103814312 103814312 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 103814312 103814312 T - DEL PDGFD ENST00000393158 human ensembl 74_37 -1 known frame_shift_del c.640 p.I214fs 0.016 NULL pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 50 0 0 25 11 30.5556 MSANTD4 0 genome.wustl.edu 37 11 105880739 105880739 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 105880739 105880739 A - DEL MSANTD4 ENST00000301919 human ensembl 74_37 -1 known frame_shift_del c.561 p.F187fs 0.903 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 160 0 0 103 10 8.84956 DLAT 0 genome.wustl.edu 37 11 111896977 111896977 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 111896977 111896977 A - DEL DLAT ENST00000280346 human ensembl 74_37 +1 known frame_shift_del c.335 p.E115fs 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 45 0 0 20 3 13.0435 CADM1 0 genome.wustl.edu 37 11 115047097 115047097 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 115047097 115047097 A - DEL CADM1 ENST00000543375 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors CADM1 HGNC ENSG00000182985 89 0 0 46 14 23.3333 BCL9L 0 genome.wustl.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - GG TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 118770651 118770652 - GG INS BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_ins c.3381_3380 p.P1128fs 0.988:0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 69 0 0 15 5 25 UPK2 0 genome.wustl.edu 37 11 118827066 118827067 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 118827066 118827067 - C INS UPK2 ENST00000264031 human ensembl 74_37 +1 known frame_shift_ins c.6_7 p.L3fs 0.135:0.103 pfam_Uroplakin_II,pirsf_Uroplakin_II pfam_Uroplakin_II,pirsf_Uroplakin_II - no_errors UPK2 HGNC ENSG00000110375 238 0 0 44 10 18.5185 UPK2 0 genome.wustl.edu 37 11 118827661 118827661 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 118827661 118827661 C - DEL UPK2 ENST00000264031 human ensembl 74_37 +1 known frame_shift_del c.145 p.C51fs 0.973 pfam_Uroplakin_II,pirsf_Uroplakin_II pfam_Uroplakin_II,pirsf_Uroplakin_II - no_errors UPK2 HGNC ENSG00000110375 202 0 0 55 10 15.3846 CCDC153 0 genome.wustl.edu 37 11 119061043 119061043 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 119061043 119061043 G - DEL CCDC153 ENST00000415318 human ensembl 74_37 -1 known frame_shift_del c.599 p.P200fs 1.000 NULL superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 397 0 0 88 19 17.757 ARNTL 0 genome.wustl.edu 37 11 13398237 13398237 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 13398237 13398237 C - DEL ARNTL ENST00000403290 human ensembl 74_37 +1 known frame_shift_del c.1376 p.H461fs 1.000 NULL 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 310 0 0 85 27 24.1071 CHRM1 0 genome.wustl.edu 37 11 62677507 62677509 + In_Frame_Del DEL AGA AGA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 62677507 62677509 AGA - DEL CHRM1 ENST00000306960 human ensembl 74_37 -1 known in_frame_del c.1066_1064 p.F355in_frame_del 0.998:1.000:1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 103 0 0 41 13 24.0741 RPS6KA4 0 genome.wustl.edu 37 11 64129351 64129351 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 64129351 64129351 C - DEL RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known frame_shift_del c.783 p.P263fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 319 1 0.3125 87 22 20.1835 MALAT1 0 genome.wustl.edu 37 11 65266672 65266672 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 65266672 65266672 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 55 0 0 17 4 19.0476 MALAT1 0 genome.wustl.edu 37 11 65268696 65268696 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 65268696 65268696 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors MALAT1 HGNC ENSG00000251562 134 0 0 35 9 20.4545 MAP3K11 0 genome.wustl.edu 37 11 65375538 65375538 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 65375538 65375538 A - DEL MAP3K11 ENST00000309100 human ensembl 74_37 -1 known frame_shift_del c.924 p.F308fs 0.998 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 236 0 0 62 8 11.4286 SF3B2 0 genome.wustl.edu 37 11 65836146 65836146 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 65836146 65836146 A - DEL SF3B2 ENST00000322535 human ensembl 74_37 +1 known frame_shift_del c.2618 p.K875fs 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 167 1 0.595238 30 8 21.0526 NUMA1 0 genome.wustl.edu 37 11 71746965 71746965 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 71746965 71746965 C - DEL NUMA1 ENST00000393695 human ensembl 74_37 -1 known frame_shift_del c.25 p.A9fs 0.393 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 262 0 0 66 18 21.4286 ARHGEF17 0 genome.wustl.edu 37 11 73021527 73021527 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 73021527 73021527 C - DEL ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known frame_shift_del c.1844 p.P617fs 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 206 0 0 45 15 25 ENSG00000266866 0 genome.wustl.edu 37 11 73068216 73068216 + RNA DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 73068216 73068216 G - DEL ENSG00000266866 ENST00000582555 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AP002761.1 Clone_based_ensembl_gene ENSG00000266866 53 0 0 19 4 17.3913 DNAJB13 0 genome.wustl.edu 37 11 73676056 73676057 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 73676056 73676057 - A INS DNAJB13 ENST00000339764 human ensembl 74_37 +1 known frame_shift_ins c.468_469 p.I158fs 1.000:1.000 superfamily_HSP40/DnaJ_pept-bd 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 DNAJB13 HGNC ENSG00000187726 184 0 0 50 15 23.0769 OR2AT4 0 genome.wustl.edu 37 11 74800161 74800161 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 74800161 74800161 G - DEL OR2AT4 ENST00000305159 human ensembl 74_37 -1 known frame_shift_del c.598 p.Q200fs 0.565 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 43 0 0 25 7 21.875 RIC3 0 genome.wustl.edu 37 11 8160039 8160040 + RNA DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 8160039 8160040 AA - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 16 0 0 9 6 40 SYTL2 0 genome.wustl.edu 37 11 85445089 85445089 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 85445089 85445089 A - DEL SYTL2 ENST00000316356 human ensembl 74_37 -1 known frame_shift_del c.1283 p.L428fs 0.002 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 172 0 0 82 31 27.4336 WEE1 0 genome.wustl.edu 37 11 9603177 9603177 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 11 9603177 9603177 T - DEL WEE1 ENST00000450114 human ensembl 74_37 +1 known frame_shift_del c.1240 p.L414fs 0.990 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE1 HGNC ENSG00000166483 138 0 0 57 19 25 ACACB 0 genome.wustl.edu 37 12 109617122 109617122 + RNA DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 109617122 109617122 G - DEL ACACB ENST00000543080 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ACACB HGNC ENSG00000076555 32 0 0 11 5 31.25 TAS2R14 0 genome.wustl.edu 37 12 11090836 11090836 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 11090836 11090836 T - DEL TAS2R14 ENST00000381852 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAS2R14 HGNC ENSG00000212127 34 0 0 22 14 38.8889 PRB2 0 genome.wustl.edu 37 12 11546764 11546764 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 11546764 11546764 G - DEL PRB2 ENST00000389362 human ensembl 74_37 -1 known frame_shift_del c.248 p.P83fs 0.749 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 1132 0 0 429 55 11.3636 WDR66 0 genome.wustl.edu 37 12 122386901 122386901 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 122386901 122386901 T - DEL WDR66 ENST00000288912 human ensembl 74_37 +1 known frame_shift_del c.1203 p.F402fs 0.046 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 136 0 0 52 22 29.7297 ARL6IP4 0 genome.wustl.edu 37 12 123464969 123464970 + Frame_Shift_Del DEL GC GC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 123464969 123464970 GC - DEL ARL6IP4 ENST00000315580 human ensembl 74_37 +1 known frame_shift_del c.35_36 p.E15fs 0.002:0.000 NULL pfam_Nucl_RNA-splicing_assoc_SR-25 - no_errors ARL6IP4 HGNC ENSG00000182196 65 0 0 5 6 54.5455 NOC4L 0 genome.wustl.edu 37 12 132632428 132632428 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 132632428 132632428 C - DEL NOC4L ENST00000330579 human ensembl 74_37 +1 known frame_shift_del c.607 p.A205fs 0.052 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 42 0 0 14 4 22.2222 EMP1 0 genome.wustl.edu 37 12 13364427 13364428 + RNA DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 13364427 13364428 AA - DEL EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors EMP1 HGNC ENSG00000134531 135 0 0 108 33 23.4043 SLCO1A2 0 genome.wustl.edu 37 12 21428275 21428275 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 21428275 21428275 A - DEL SLCO1A2 ENST00000390670 human ensembl 74_37 -1 known frame_shift_del c.1688 p.F563fs 0.000 pfscan_MFS_dom pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 26 0 0 15 8 34.7826 ITPR2 0 genome.wustl.edu 37 12 26640046 26640046 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 26640046 26640046 T - DEL ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_del c.5509 p.R1837fs 1.000 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 196 1 0.507614 85 20 19.0476 ITPR2 0 genome.wustl.edu 37 12 26640149 26640150 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 26640149 26640150 - T INS ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_ins c.5406_5405 p.S1803fs 1.000:1.000 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 54 0 0 40 9 18.3673 TM7SF3 0 genome.wustl.edu 37 12 27152717 27152717 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 27152717 27152717 A - DEL TM7SF3 ENST00000539399 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TM7SF3 HGNC ENSG00000064115 23 0 0 6 7 53.8462 DENND5B 0 genome.wustl.edu 37 12 31604972 31604973 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 31604972 31604973 - A INS DENND5B ENST00000306833 human ensembl 74_37 -1 known frame_shift_ins c.1636_1635 p.T545fs 1.000:1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 172 0 0 56 25 30.8642 KMT2D 0 genome.wustl.edu 37 12 49438211 49438211 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 49438211 49438211 T - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.5058 p.K1686fs 1.000 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 183 0 0 61 21 25.6098 KCNH3 0 genome.wustl.edu 37 12 49935520 49935520 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 49935520 49935520 G - DEL KCNH3 ENST00000257981 human ensembl 74_37 +1 known frame_shift_del c.418 p.G141fs 1.000 pfscan_PAS-assoc_C pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 671 0 0 113 35 23.6486 AAAS 0 genome.wustl.edu 37 12 53701391 53701391 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 53701391 53701391 C - DEL AAAS ENST00000209873 human ensembl 74_37 -1 known frame_shift_del c.1523 p.G508fs 0.664 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 311 0 0 79 22 21.7822 HOXC10 0 genome.wustl.edu 37 12 54383304 54383304 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 54383304 54383304 T - DEL HOXC10 ENST00000511575 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors HOXC10 HGNC ENSG00000180818 27 0 0 11 4 26.6667 ATP5B 0 genome.wustl.edu 37 12 57036769 57036770 + RNA INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 57036769 57036770 - A INS ATP5B ENST00000550162 human ensembl 74_37 -1 known rna NULL NULL 0.378:0.657 - - - no_errors ATP5B HGNC ENSG00000110955 9 0 0 2 3 60 LRP1 0 genome.wustl.edu 37 12 57572241 57572242 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 57572241 57572242 - G INS LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_ins c.4461_4462 p.E1489fs 0.705:1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 199 0 0 75 23 23.4694 R3HDM2 0 genome.wustl.edu 37 12 57648750 57648750 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 57648750 57648750 C - DEL R3HDM2 ENST00000347140 human ensembl 74_37 -1 known frame_shift_del c.2737 p.D913fs 0.998 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 116 1 0.854701 39 17 30.3571 CEP290 0 genome.wustl.edu 37 12 88443060 88443060 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 88443060 88443060 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.7347 p.K2449fs 0.999 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 198 0 0 99 36 26.6667 CEP290 0 genome.wustl.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 88524079 88524079 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 280 1 0.355872 154 35 18.5185 VEZT 0 genome.wustl.edu 37 12 95660289 95660289 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 95660289 95660289 A - DEL VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_del c.591 p.K199fs 0.911 NULL NULL - no_errors VEZT HGNC ENSG00000028203 323 2 0.615385 179 49 21.4912 CCDC38 0 genome.wustl.edu 37 12 96292432 96292432 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 12 96292432 96292432 T - DEL CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_del c.447 p.A150fs 0.125 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 167 0 0 94 24 20.339 RAB20 0 genome.wustl.edu 37 13 111176500 111176500 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 111176500 111176500 C - DEL RAB20 ENST00000267328 human ensembl 74_37 -1 known frame_shift_del c.217 p.A73fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom 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 RAB20 HGNC ENSG00000139832 159 0 0 63 16 20.2532 GJA3 0 genome.wustl.edu 37 13 20717089 20717091 + In_Frame_Del DEL CTC CTC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 20717089 20717091 CTC - DEL GJA3 ENST00000241125 human ensembl 74_37 -1 known in_frame_del c.339_337 p.E113in_frame_del 0.426:0.666:0.914 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46 - no_errors GJA3 HGNC ENSG00000121743 23 0 0 8 3 27.2727 XPO4 0 genome.wustl.edu 37 13 21437114 21437114 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 21437114 21437114 T - DEL XPO4 ENST00000490513 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors XPO4 HGNC ENSG00000132953 35 0 0 23 6 20.6897 PARP4 0 genome.wustl.edu 37 13 25030500 25030500 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 25030500 25030500 T - DEL PARP4 ENST00000381989 human ensembl 74_37 -1 known frame_shift_del c.2541 p.K847fs 0.996 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 135 0 0 58 17 22.6667 BRCA2 0 genome.wustl.edu 37 13 32907421 32907421 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 32907421 32907421 A - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.1806 p.I605fs 0.544 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 66 0 0 37 15 28.8462 BRCA2 0 genome.wustl.edu 37 13 32911073 32911074 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 32911073 32911074 - A INS BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_ins c.2581_2582 p.N863fs 0.000:0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 89 0 0 47 24 33.8028 PDS5B 0 genome.wustl.edu 37 13 33338694 33338694 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 33338694 33338694 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3586 p.S1198fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 105 0 0 38 15 28.3019 PDS5B 0 genome.wustl.edu 37 13 33344286 33344286 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 33344286 33344286 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3652 p.T1220fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 133 0 0 57 8 12.3077 ZC3H13 0 genome.wustl.edu 37 13 46543661 46543661 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 46543661 46543661 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.3018 p.K1006fs 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 97 0 0 54 25 31.6456 CAB39L 0 genome.wustl.edu 37 13 49933960 49933960 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 49933960 49933960 T - DEL CAB39L ENST00000347776 human ensembl 74_37 -1 known frame_shift_del c.285 p.D96fs 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 111 0 0 65 11 14.4737 MYCBP2 0 genome.wustl.edu 37 13 77844149 77844149 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 77844149 77844149 T - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.1238 p.K413fs 1.000 superfamily_ARM-type_fold 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 285 0 0 118 34 22.3684 SLITRK1 0 genome.wustl.edu 37 13 84455642 84455642 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 13 84455642 84455642 T - DEL SLITRK1 ENST00000377084 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 199 0 0 64 24 27.2727 SUPT16H 0 genome.wustl.edu 37 14 21820849 21820850 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 21820849 21820850 - G INS SUPT16H ENST00000216297 human ensembl 74_37 -1 known frame_shift_ins c.3127_3126 p.K1042fs 1.000:1.000 NULL pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 495 0 0 153 58 27.4882 HEATR5A 0 genome.wustl.edu 37 14 31856515 31856515 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 31856515 31856515 A - DEL HEATR5A ENST00000389961 human ensembl 74_37 -1 known frame_shift_del c.982 p.S328fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 136 0 0 45 10 18.1818 BAZ1A 0 genome.wustl.edu 37 14 35245127 35245128 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 35245127 35245128 - A INS BAZ1A ENST00000360310 human ensembl 74_37 -1 known frame_shift_ins c.2831_2830 p.S944fs 1.000:1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 126 0 0 48 13 21.3115 FBXO33 0 genome.wustl.edu 37 14 39871611 39871612 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 39871611 39871612 - T INS FBXO33 ENST00000298097 human ensembl 74_37 -1 known frame_shift_ins c.704_703 p.I235fs 1.000:1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO33 HGNC ENSG00000165355 119 0 0 43 14 24.5614 PELI2 0 genome.wustl.edu 37 14 56757067 56757067 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 56757067 56757067 G - DEL PELI2 ENST00000267460 human ensembl 74_37 +1 known frame_shift_del c.589 p.G198fs 0.996 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 272 0 0 82 30 26.7857 ZBTB1 0 genome.wustl.edu 37 14 64988802 64988802 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 64988802 64988802 A - DEL ZBTB1 ENST00000394712 human ensembl 74_37 +1 known frame_shift_del c.580 p.S196fs 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 158 0 0 82 21 20.3883 PLEKHH1 0 genome.wustl.edu 37 14 68053849 68053850 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 68053849 68053850 - C INS PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known frame_shift_ins c.3992_3993 p.T1334fs 0.000:0.000 NULL 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 PLEKHH1 HGNC ENSG00000054690 76 0 0 25 7 21.875 ELMSAN1 0 genome.wustl.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 74205773 74205773 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.939 p.N314fs 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 30 0 0 11 5 31.25 ENSG00000258891 0 genome.wustl.edu 37 14 74363249 74363249 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 74363249 74363249 T - DEL ENSG00000258891 ENST00000554009 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-1021I20.5 Clone_based_vega_gene ENSG00000258891 138 0 0 60 16 21.0526 YLPM1 0 genome.wustl.edu 37 14 75230562 75230562 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 75230562 75230562 A - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.370 p.K124fs 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 306 0 0 78 24 23.5294 PGF 0 genome.wustl.edu 37 14 75412941 75412942 + Frame_Shift_Del DEL TC TC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 75412941 75412942 TC - DEL PGF ENST00000555567 human ensembl 74_37 -1 known frame_shift_del c.460_459 p.K154fs 1.000:1.000 NULL pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PGF HGNC ENSG00000119630 176 0 0 43 14 24.5614 FOXN3 0 genome.wustl.edu 37 14 89878534 89878534 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 89878534 89878534 G - DEL FOXN3 ENST00000261302 human ensembl 74_37 -1 known frame_shift_del c.287 p.P96fs 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 147 0 0 61 24 28.2353 UNC79 0 genome.wustl.edu 37 14 94121610 94121610 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 94121610 94121610 G - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.6496 p.G2167fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 182 0 0 67 32 32.3232 ATG2B 0 genome.wustl.edu 37 14 96788614 96788614 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 14 96788614 96788614 A - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATG2B HGNC ENSG00000066739 101 0 0 43 18 29.5082 LOC101927079 0 genome.wustl.edu 37 15 22332412 22332413 + RNA INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 22332412 22332413 - A INS LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.686:0.693 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 116 0 0 78 16 17.0213 SNHG14 0 genome.wustl.edu 37 15 25227367 25227367 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 25227367 25227367 T - DEL SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 19 0 0 11 3 21.4286 RMDN3 0 genome.wustl.edu 37 15 41029894 41029894 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 41029894 41029894 T - DEL RMDN3 ENST00000260385 human ensembl 74_37 -1 known frame_shift_del c.1156 p.T386fs 1.000 NULL NULL - no_errors RMDN3 HGNC ENSG00000137824 134 0 0 53 6 10.1695 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987961 + RNA DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 51987960 51987961 AA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 25 0 0 6 10 62.5 PARP16 0 genome.wustl.edu 37 15 65578609 65578610 + Frame_Shift_Del DEL AC AC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 65578609 65578610 AC - DEL PARP16 ENST00000261888 human ensembl 74_37 -1 known frame_shift_del c.156_155 p.C52fs 0.996:0.997 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP16 HGNC ENSG00000138617 55 0 0 10 7 41.1765 MESDC2 0 genome.wustl.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 81271633 81271633 T - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known frame_shift_del c.632 p.K211fs 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 136 1 0.729927 49 10 16.9492 AKAP13 0 genome.wustl.edu 37 15 86123175 86123177 + In_Frame_Del DEL GAA GAA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 86123175 86123177 GAA - DEL AKAP13 ENST00000361243 human ensembl 74_37 +1 known in_frame_del c.1876_1878 p.E627in_frame_del 0.000:0.000:0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 162 0 0 86 37 30.0813 IQGAP1 0 genome.wustl.edu 37 15 91018049 91018049 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 15 91018049 91018049 T - DEL IQGAP1 ENST00000560020 human ensembl 74_37 +1 known rna NULL NULL 0.121 - - - no_errors IQGAP1 HGNC ENSG00000140575 9 0 0 12 7 36.8421 ATP2A1 0 genome.wustl.edu 37 16 28909397 28909397 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 28909397 28909397 C - DEL ATP2A1 ENST00000357084 human ensembl 74_37 +1 known frame_shift_del c.1496 p.P500fs 1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA 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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 294 0 0 86 18 17.3077 INO80E 0 genome.wustl.edu 37 16 30016653 30016653 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 30016653 30016653 C - DEL INO80E ENST00000563197 human ensembl 74_37 +1 known frame_shift_del c.625 p.T212fs 1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 10 0 0 4 3 42.8571 AKTIP 0 genome.wustl.edu 37 16 53532414 53532414 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 53532414 53532414 T - DEL AKTIP ENST00000300245 human ensembl 74_37 -1 known frame_shift_del c.137 p.N46fs 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC ENSG00000166971 319 0 0 126 31 19.7452 CDH16 0 genome.wustl.edu 37 16 66947518 66947519 + Splice_Site INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 66947518 66947519 - G INS CDH16 ENST00000299752 human ensembl 74_37 -1 known splice_site_ins c.781-3_781-2 e7-2 0.973:0.077 - - - no_errors CDH16 HGNC ENSG00000166589 139 0 0 54 21 28 PLA2G15 0 genome.wustl.edu 37 16 68289855 68289855 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 68289855 68289855 G - DEL PLA2G15 ENST00000219345 human ensembl 74_37 +1 known frame_shift_del c.689 p.G232fs 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 74 0 0 28 5 15.1515 ATP2C2 0 genome.wustl.edu 37 16 84472790 84472809 + Frame_Shift_Del DEL TCCAGAGGGTCTGCCCATCG TCCAGAGGGTCTGCCCATCG - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 TCCAGAGGGTCTGCCCATCG TCCAGAGGGTCTGCCCATCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 84472790 84472809 TCCAGAGGGTCTGCCCATCG - DEL ATP2C2 ENST00000262429 human ensembl 74_37 +1 known frame_shift_del c.1005_1024 p.P336fs 0.953:0.999:0.998:0.018:0.996:1.000:0.998:1.000:1.000:0.417:0.991:1.000:0.998:1.000:1.000:1.000:1.000:1.000:0.998:1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1,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_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 183 0 0 39 8 17.0213 TLDC1 0 genome.wustl.edu 37 16 84514302 84514303 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 84514302 84514303 - C INS TLDC1 ENST00000343629 human ensembl 74_37 -1 known frame_shift_ins c.1090_1089 p.Q363fs 1.000:0.148 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors TLDC1 HGNC ENSG00000140950 106 0 0 24 9 27.2727 SNAI3-AS1 0 genome.wustl.edu 37 16 88752838 88752838 + RNA DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 88752838 88752838 G - DEL SNAI3-AS1 ENST00000567997 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAI3-AS1 HGNC ENSG00000260630 54 0 0 12 3 20 SPATA2L 0 genome.wustl.edu 37 16 89764374 89764374 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 16 89764374 89764374 G - DEL SPATA2L ENST00000289805 human ensembl 74_37 -1 known frame_shift_del c.643 p.R215fs 0.010 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 85 0 0 18 6 25 ENSG00000262920 0 genome.wustl.edu 37 17 171283 171283 + RNA DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 171283 171283 C - DEL ENSG00000262920 ENST00000570501 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1260E13.1 Clone_based_vega_gene ENSG00000262920 41 0 0 8 4 33.3333 CLUH 0 genome.wustl.edu 37 17 2601322 2601322 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 2601322 2601322 G - DEL CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_del c.1715 p.P572fs 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 51 0 0 4 2 33.3333 NLK 0 genome.wustl.edu 37 17 26449740 26449740 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 26449740 26449740 T - DEL NLK ENST00000407008 human ensembl 74_37 +1 known frame_shift_del c.570 p.F192fs 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 NLK HGNC ENSG00000087095 204 0 0 108 15 12.1951 TMEM97 0 genome.wustl.edu 37 17 26653807 26653807 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 26653807 26653807 A - DEL TMEM97 ENST00000226230 human ensembl 74_37 +1 known frame_shift_del c.519 p.K176fs 1.000 pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 131 0 0 44 15 25.4237 SEZ6 0 genome.wustl.edu 37 17 27284223 27284224 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 27284223 27284224 - G INS SEZ6 ENST00000317338 human ensembl 74_37 -1 known frame_shift_ins c.2532_2531 p.E845fs 0.118:0.978 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 200 0 0 48 22 31.4286 ENSG00000266981 0 genome.wustl.edu 37 17 33518082 33518082 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 33518082 33518082 A - DEL ENSG00000266981 ENST00000590144 human ensembl 74_37 +1 putative rna NULL NULL 0.853 - - - no_errors RP11-799D4.2 Clone_based_vega_gene ENSG00000266981 152 0 0 52 26 33.3333 SLFN13 0 genome.wustl.edu 37 17 33768996 33768996 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 33768996 33768996 C - DEL SLFN13 ENST00000285013 human ensembl 74_37 -1 known frame_shift_del c.1508 p.G503fs 0.052 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 173 0 0 93 9 8.82353 ITGAE 0 genome.wustl.edu 37 17 3655036 3655036 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 3655036 3655036 G - DEL ITGAE ENST00000263087 human ensembl 74_37 -1 known frame_shift_del c.1801 p.L601fs 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 221 0 0 45 11 19.6429 TOP2A 0 genome.wustl.edu 37 17 38552642 38552642 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 38552642 38552642 T - DEL TOP2A ENST00000423485 human ensembl 74_37 -1 known frame_shift_del c.3613 p.T1205fs 0.002 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 168 1 0.591716 90 26 22.4138 HEXIM2 0 genome.wustl.edu 37 17 43240209 43240210 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 43240209 43240210 - C INS HEXIM2 ENST00000307275 human ensembl 74_37 +1 known frame_shift_ins c.49_50 p.L18fs 0.580:0.885 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 232 0 0 65 17 20.7317 TRIM25 0 genome.wustl.edu 37 17 54969424 54969424 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 54969424 54969424 C - DEL TRIM25 ENST00000316881 human ensembl 74_37 -1 known frame_shift_del c.1530 p.I511fs 0.997 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,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 TRIM25 HGNC ENSG00000121060 213 0 0 72 13 15.2941 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 369 1 0.27027 56 58 50.8772 RPS6KB1 0 genome.wustl.edu 37 17 58022829 58022829 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 58022829 58022829 A - DEL RPS6KB1 ENST00000225577 human ensembl 74_37 +1 known frame_shift_del c.1290 p.I432fs 1.000 pirsf_Ribosomal_S6_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB1 HGNC ENSG00000108443 49 0 0 33 8 19.5122 PPM1D 0 genome.wustl.edu 37 17 58740439 58740439 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 58740439 58740439 T - DEL PPM1D ENST00000305921 human ensembl 74_37 +1 known frame_shift_del c.1344 p.L450fs 0.970 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 174 0 0 87 31 26.2712 TEX2 0 genome.wustl.edu 37 17 62272340 62272340 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 62272340 62272340 T - DEL TEX2 ENST00000258991 human ensembl 74_37 -1 known frame_shift_del c.1760 p.N587fs 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 163 0 0 71 25 26.0417 MPDU1 0 genome.wustl.edu 37 17 7489033 7489034 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 17 7489033 7489034 - T INS MPDU1 ENST00000576066 human ensembl 74_37 +1 known frame_shift_ins c.124_125 p.S44fs 0.000:0.000 NULL NULL - no_errors MPDU1 HGNC ENSG00000129255 136 0 0 50 10 16.6667 CEP192 0 genome.wustl.edu 37 18 13052948 13052949 + In_Frame_Ins INS - - CAG TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 13052948 13052949 - CAG INS CEP192 ENST00000506447 human ensembl 74_37 +1 known in_frame_ins c.3048_3049 p.1020in_frame_insQ 0.004:0.003 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 419 0 0 156 37 19.171 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 64 0 0 23 11 32.3529 ENSG00000263606 0 genome.wustl.edu 37 18 2946534 2946534 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 2946534 2946534 T - DEL ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 37 0 0 15 6 28.5714 ASXL3 0 genome.wustl.edu 37 18 31319986 31319986 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 31319986 31319986 A - DEL ASXL3 ENST00000269197 human ensembl 74_37 +1 known frame_shift_del c.2618 p.V876fs 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 93 0 0 52 17 24.6377 DTNA 0 genome.wustl.edu 37 18 32395860 32395860 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 32395860 32395860 T - DEL DTNA ENST00000592114 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors DTNA HGNC ENSG00000134769 88 0 0 63 20 24.0964 DTNA 0 genome.wustl.edu 37 18 32455332 32455332 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 32455332 32455332 G - DEL DTNA ENST00000269190 human ensembl 74_37 +1 known frame_shift_del c.1795 p.G600fs 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 113 0 0 74 10 11.9048 SETBP1 0 genome.wustl.edu 37 18 42281720 42281720 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 42281720 42281720 G - DEL SETBP1 ENST00000282030 human ensembl 74_37 +1 known frame_shift_del c.409 p.D138fs 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 183 1 0.543478 62 12 16.2162 MBD1 0 genome.wustl.edu 37 18 47797892 47797892 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 47797892 47797892 T - DEL MBD1 ENST00000424334 human ensembl 74_37 -1 known frame_shift_del c.1950 p.K650fs 0.848 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 419 1 0.238095 204 56 21.5385 ADNP2 0 genome.wustl.edu 37 18 77894261 77894261 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 18 77894261 77894261 C - DEL ADNP2 ENST00000262198 human ensembl 74_37 +1 known frame_shift_del c.965 p.P324fs 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 167 1 0.595238 65 22 25.2874 ABCA7 0 genome.wustl.edu 37 19 1058906 1058906 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 1058906 1058906 G - DEL ABCA7 ENST00000263094 human ensembl 74_37 +1 known frame_shift_del c.5367 p.D1791fs 0.915 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 153 0 0 35 9 20.4545 ZNF878 0 genome.wustl.edu 37 19 12155504 12155504 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 12155504 12155504 A - DEL ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_del c.853 p.S285fs 0.007 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 ZNF878 HGNC ENSG00000257446 179 0 0 105 36 25.5319 MIR27A 0 genome.wustl.edu 37 19 13947256 13947256 + RNA DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 13947256 13947256 G - DEL MIR27A ENST00000385073 human ensembl 74_37 -1 known rna NULL NULL 0.760 - - - no_errors MIR27A HGNC ENSG00000207808 48 0 0 11 6 35.2941 CYP4F22 0 genome.wustl.edu 37 19 15648181 15648181 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 15648181 15648181 C - DEL CYP4F22 ENST00000269703 human ensembl 74_37 +1 known frame_shift_del c.377 p.K128fs 0.805 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 CYP4F22 HGNC ENSG00000171954 212 0 0 73 22 23.1579 ZNF90 0 genome.wustl.edu 37 19 20228702 20228702 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 20228702 20228702 A - DEL ZNF90 ENST00000418063 human ensembl 74_37 +1 known frame_shift_del c.339 p.G116fs 0.054 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 ZNF90 HGNC ENSG00000213988 62 0 0 15 12 44.4444 URI1 0 genome.wustl.edu 37 19 30500144 30500146 + In_Frame_Del DEL GAC GAC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 30500144 30500146 GAC - DEL URI1 ENST00000542441 human ensembl 74_37 +1 known in_frame_del c.919_921 p.D310in_frame_del 0.023:0.013:0.000 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 52 0 0 40 4 9.09091 FFAR2 0 genome.wustl.edu 37 19 35941539 35941540 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 35941539 35941540 - G INS FFAR2 ENST00000246549 human ensembl 74_37 +1 known frame_shift_ins c.923_924 p.T310fs 0.554:0.176 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 153 0 0 51 18 26.087 ZNF793 0 genome.wustl.edu 37 19 38028415 38028415 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 38028415 38028415 T - DEL ZNF793 ENST00000445217 human ensembl 74_37 +1 known frame_shift_del c.855 p.C288fs 0.222 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 86 0 0 25 12 32.4324 PPP1R14A 0 genome.wustl.edu 37 19 38741932 38741933 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 38741932 38741933 - G INS PPP1R14A ENST00000591291 human ensembl 74_37 -1 putative frame_shift_ins c.345_344 p.D116fs 0.000:0.000 NULL pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14A HGNC ENSG00000167641 34 0 0 4 5 55.5556 PIAS4 0 genome.wustl.edu 37 19 4037644 4037644 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 4037644 4037644 C - DEL PIAS4 ENST00000262971 human ensembl 74_37 +1 known frame_shift_del c.1304 p.S437fs 0.992 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 107 0 0 38 4 9.52381 ZNF234 0 genome.wustl.edu 37 19 44660629 44660629 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 44660629 44660629 A - DEL ZNF234 ENST00000426739 human ensembl 74_37 +1 known frame_shift_del c.460 p.K155fs 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 142 0 0 91 20 18.018 FAM83E 0 genome.wustl.edu 37 19 49107038 49107038 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 49107038 49107038 G - DEL FAM83E ENST00000263266 human ensembl 74_37 -1 known frame_shift_del c.889 p.Q297fs 0.001 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 65 0 0 24 7 22.5806 MAMSTR 0 genome.wustl.edu 37 19 49218105 49218106 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 49218105 49218106 - G INS MAMSTR ENST00000318083 human ensembl 74_37 -1 known frame_shift_ins c.486_485 p.H163fs 0.043:0.036 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors MAMSTR HGNC ENSG00000176909 303 0 0 54 21 28 ZNF473 0 genome.wustl.edu 37 19 50548684 50548684 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 50548684 50548684 T - DEL ZNF473 ENST00000270617 human ensembl 74_37 +1 known frame_shift_del c.984 p.F329fs 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF473 HGNC ENSG00000142528 309 0 0 87 40 31.4961 NLRP11 0 genome.wustl.edu 37 19 56321510 56321511 + Frame_Shift_Del DEL CT CT - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 56321510 56321511 CT - DEL NLRP11 ENST00000443188 human ensembl 74_37 -1 known frame_shift_del c.466_465 p.R155fs 0.036:0.013 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 63 0 0 32 5 13.5135 C19orf70 0 genome.wustl.edu 37 19 5679654 5679654 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 5679654 5679654 G - DEL C19orf70 ENST00000309324 human ensembl 74_37 -1 known frame_shift_del c.150 p.A51fs 0.000 NULL NULL - no_errors C19orf70 HGNC ENSG00000174917 199 0 0 26 23 46.9388 ZNF530 0 genome.wustl.edu 37 19 58118568 58118568 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 58118568 58118568 A - DEL ZNF530 ENST00000332854 human ensembl 74_37 +1 known frame_shift_del c.1675 p.N560fs 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF530 HGNC ENSG00000183647 181 0 0 67 38 36.1905 DENND1C 0 genome.wustl.edu 37 19 6468936 6468936 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 6468936 6468936 C - DEL DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_del c.1436 p.G479fs 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 61 0 0 13 6 31.5789 MAP2K7 0 genome.wustl.edu 37 19 7976149 7976149 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 7976149 7976149 C - DEL MAP2K7 ENST00000545011 human ensembl 74_37 +1 known frame_shift_del c.996 p.P334fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 291 0 0 47 12 20.339 MAP2K7 0 genome.wustl.edu 37 19 7977071 7977073 + In_Frame_Del DEL AAG AAG - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 19 7977071 7977073 AAG - DEL MAP2K7 ENST00000545011 human ensembl 74_37 +1 known in_frame_del c.1243_1245 p.K415in_frame_del 1.000:1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 310 0 0 57 22 27.8481 ANAPC1 0 genome.wustl.edu 37 2 112614257 112614258 + Splice_Site INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 112614257 112614258 - T INS ANAPC1 ENST00000341068 human ensembl 74_37 -1 known splice_site_ins c.1450-2_1450-1 e12-1 0.994:0.992 - - - no_errors ANAPC1 HGNC ENSG00000153107 61 0 0 61 7 10.2941 ROCK2 0 genome.wustl.edu 37 2 11389836 11389837 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 11389836 11389837 - A INS ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_ins c.413_412 p.W138fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 264 0 0 122 38 23.75 IWS1 0 genome.wustl.edu 37 2 128238676 128238676 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 128238676 128238676 T - DEL IWS1 ENST00000295321 human ensembl 74_37 -1 known frame_shift_del c.2404 p.S802fs 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 191 0 0 63 29 31.5217 IWS1 0 genome.wustl.edu 37 2 128252502 128252502 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 128252502 128252502 T - DEL IWS1 ENST00000295321 human ensembl 74_37 -1 known frame_shift_del c.1745 p.K582fs 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 140 0 0 49 16 24.6154 IWS1 0 genome.wustl.edu 37 2 128262790 128262790 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 128262790 128262790 G - DEL IWS1 ENST00000295321 human ensembl 74_37 -1 known frame_shift_del c.689 p.P230fs 0.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 446 0 0 183 58 24.0664 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 65 0 0 46 28 37.8378 AMER3 0 genome.wustl.edu 37 2 131520225 131520225 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 131520225 131520225 G - DEL AMER3 ENST00000321420 human ensembl 74_37 +1 known frame_shift_del c.580 p.R196fs 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 122 1 0.813008 44 13 22.807 POTEE 0 genome.wustl.edu 37 2 132021451 132021451 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 132021451 132021451 C - DEL POTEE ENST00000356920 human ensembl 74_37 +1 known frame_shift_del c.2423 p.L810fs 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 410 0 0 142 28 16.4706 GPR39 0 genome.wustl.edu 37 2 133402811 133402811 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 133402811 133402811 T - DEL GPR39 ENST00000329321 human ensembl 74_37 +1 known frame_shift_del c.994 p.F333fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 165 0 0 60 19 24.0506 GPR39 0 genome.wustl.edu 37 2 133403596 133403596 + RNA DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 133403596 133403596 G - DEL GPR39 ENST00000470071 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPR39 HGNC ENSG00000183840 54 0 0 15 13 46.4286 HNMT 0 genome.wustl.edu 37 2 138758556 138758558 + In_Frame_Del DEL GTT GTT - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 138758556 138758558 GTT - DEL HNMT ENST00000280097 human ensembl 74_37 +1 known in_frame_del c.259_261 p.V88in_frame_del 1.000:1.000:0.998 pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase - no_errors HNMT HGNC ENSG00000150540 86 0 0 48 17 26.1538 BAZ2B 0 genome.wustl.edu 37 2 160335159 160335161 + In_Frame_Del DEL AGA AGA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 160335159 160335161 AGA - DEL BAZ2B ENST00000392783 human ensembl 74_37 -1 known in_frame_del c.72_70 p.S24in_frame_del 1.000:1.000:1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 238 0 0 73 35 32.4074 XIRP2 0 genome.wustl.edu 37 2 168099958 168099958 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 168099958 168099958 G - DEL XIRP2 ENST00000295237 human ensembl 74_37 +1 known frame_shift_del c.2056 p.D688fs 0.997 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 182 0 0 81 27 25 XIRP2 0 genome.wustl.edu 37 2 168103736 168103737 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 168103736 168103737 - A INS XIRP2 ENST00000295237 human ensembl 74_37 +1 known frame_shift_ins c.5834_5835 p.D1948fs 0.000:0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 101 0 0 39 10 20.4082 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 39 0 0 12 4 25 CIR1 0 genome.wustl.edu 37 2 175213713 175213713 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 175213713 175213713 T - DEL CIR1 ENST00000342016 human ensembl 74_37 -1 known frame_shift_del c.865 p.I289fs 0.130 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 79 0 0 50 12 19.3548 HOXD8 0 genome.wustl.edu 37 2 176995424 176995424 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 176995424 176995424 T - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.330 p.P111fs 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 198 0 0 52 8 13.3333 TTN 0 genome.wustl.edu 37 2 179648873 179648873 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 179648873 179648873 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.2699 p.K900fs 1.000 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 172 0 0 84 21 20 CCDC150 0 genome.wustl.edu 37 2 197511222 197511222 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 197511222 197511222 A - DEL CCDC150 ENST00000389175 human ensembl 74_37 +1 known frame_shift_del c.170 p.R59fs 0.031 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 104 0 0 42 15 26.3158 CCDC150 0 genome.wustl.edu 37 2 197584401 197584401 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 197584401 197584401 T - DEL CCDC150 ENST00000461825 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors CCDC150 HGNC ENSG00000144395 45 0 0 8 4 33.3333 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 70 0 0 37 11 22.9167 CRYGA 0 genome.wustl.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 209025577 209025577 C - DEL CRYGA ENST00000304502 human ensembl 74_37 -1 known frame_shift_del c.476 p.G159fs 0.651 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 271 1 0.367647 108 27 20 CNPPD1 0 genome.wustl.edu 37 2 220037570 220037570 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 220037570 220037570 G - DEL CNPPD1 ENST00000360507 human ensembl 74_37 -1 known frame_shift_del c.971 p.P324fs 0.872 NULL pfam_Cyclin_PHO80-like,superfamily_Cyclin-like - no_errors CNPPD1 HGNC ENSG00000115649 132 1 0.75188 40 8 16.6667 ABCB6 0 genome.wustl.edu 37 2 220081103 220081103 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 220081103 220081103 C - DEL ABCB6 ENST00000265316 human ensembl 74_37 -1 known frame_shift_del c.953 p.G318fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 152 0 0 35 10 22.2222 NEU2 0 genome.wustl.edu 37 2 233899664 233899664 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 233899664 233899664 C - DEL NEU2 ENST00000233840 human ensembl 74_37 +1 known frame_shift_del c.1040 p.L349fs 0.807 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 431 0 0 161 52 24.4131 EMILIN1 0 genome.wustl.edu 37 2 27305786 27305786 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 27305786 27305786 G - DEL EMILIN1 ENST00000380320 human ensembl 74_37 +1 known frame_shift_del c.1347 p.L452fs 0.997 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 58 0 0 13 3 18.75 SLC30A3 0 genome.wustl.edu 37 2 27478187 27478188 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 27478187 27478188 - G INS SLC30A3 ENST00000233535 human ensembl 74_37 -1 known frame_shift_ins c.1160_1159 p.Q387fs 0.986:0.942 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 185 0 0 44 12 21.4286 COX7A2L 0 genome.wustl.edu 37 2 42578275 42578275 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 42578275 42578275 A - DEL COX7A2L ENST00000482463 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COX7A2L HGNC ENSG00000115944 23 0 0 8 6 42.8571 MSH2 0 genome.wustl.edu 37 2 47639588 47639588 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 47639588 47639588 A - DEL MSH2 ENST00000233146 human ensembl 74_37 +1 known frame_shift_del c.681 p.A230fs 0.994 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 119 0 0 38 11 22.449 ETAA1 0 genome.wustl.edu 37 2 67629972 67629972 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 67629972 67629972 T - DEL ETAA1 ENST00000462772 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ETAA1 HGNC ENSG00000143971 126 0 0 54 29 34.9398 TPRKB 0 genome.wustl.edu 37 2 73957881 73957881 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 73957881 73957881 A - DEL TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors TPRKB HGNC ENSG00000144034 63 0 0 23 16 41.0256 CCDC142 0 genome.wustl.edu 37 2 74701702 74701702 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 74701702 74701702 A - DEL CCDC142 ENST00000393965 human ensembl 74_37 -1 known frame_shift_del c.2224 p.S742fs 0.984 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 84 0 0 29 9 23.6842 RNF103 0 genome.wustl.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 86831015 86831015 T - DEL RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_del c.2009 p.K670fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 194 1 0.512821 118 17 12.5926 FAHD2B 0 genome.wustl.edu 37 2 97749725 97749725 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 97749725 97749725 G - DEL FAHD2B ENST00000272610 human ensembl 74_37 -1 known frame_shift_del c.842 p.P281fs 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 56 0 0 31 8 20.5128 ANKRD36 0 genome.wustl.edu 37 2 97875579 97875580 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 2 97875579 97875580 - A INS ANKRD36 ENST00000420699 human ensembl 74_37 +1 known frame_shift_ins c.3337_3338 p.D1116fs 0.003:0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 45 0 0 33 6 15.3846 IDH3B 0 genome.wustl.edu 37 20 2640522 2640523 + RNA INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 2640522 2640523 - G INS IDH3B ENST00000466999 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors IDH3B HGNC ENSG00000101365 78 0 0 56 13 18.8406 ENSG00000218018 0 genome.wustl.edu 37 20 55967910 55967910 + RNA DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 55967910 55967910 C - DEL ENSG00000218018 ENST00000417346 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-800J21.3 Clone_based_vega_gene ENSG00000218018 76 0 0 14 5 26.3158 EDN3 0 genome.wustl.edu 37 20 57897443 57897444 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 57897443 57897444 - A INS EDN3 ENST00000337938 human ensembl 74_37 +1 known frame_shift_ins c.559_560 p.T189fs 0.000:0.000 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN3 HGNC ENSG00000124205 193 0 0 41 11 21.1538 SYCP2 0 genome.wustl.edu 37 20 58490593 58490593 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 58490593 58490593 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.526 p.M176fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 191 1 0.520833 114 34 22.973 RBBP8NL 0 genome.wustl.edu 37 20 60989485 60989485 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 60989485 60989485 G - DEL RBBP8NL ENST00000252998 human ensembl 74_37 -1 known frame_shift_del c.922 p.L308fs 0.037 NULL pfam_CtIP_N - no_errors RBBP8NL HGNC ENSG00000130701 26 0 0 6 4 40 SCRT2 0 genome.wustl.edu 37 20 644343 644343 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 20 644343 644343 G - DEL SCRT2 ENST00000246104 human ensembl 74_37 -1 known frame_shift_del c.896 p.P299fs 0.983 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT2 HGNC ENSG00000215397 10 0 0 2 2 50 BMS1P20 0 genome.wustl.edu 37 22 22661173 22661174 + RNA INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 22661173 22661174 - C INS BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.833:0.876 - - - no_errors BMS1P20 HGNC ENSG00000236850 75 0 0 39 8 17.0213 SGSM1 0 genome.wustl.edu 37 22 25270540 25270540 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 25270540 25270540 C - DEL SGSM1 ENST00000400359 human ensembl 74_37 +1 known frame_shift_del c.1450 p.M486fs 0.859 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 27 0 0 7 2 22.2222 PIK3IP1 0 genome.wustl.edu 37 22 31685264 31685266 + In_Frame_Del DEL CCT CCT - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 31685264 31685266 CCT - DEL PIK3IP1 ENST00000402249 human ensembl 74_37 -1 known in_frame_del c.624_622 p.R208in_frame_del 0.004:0.009:0.009 NULL pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle - no_errors PIK3IP1 HGNC ENSG00000100100 58 0 0 23 4 14.8148 APOL3 0 genome.wustl.edu 37 22 36545175 36545176 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 36545175 36545176 - T INS APOL3 ENST00000397289 human ensembl 74_37 -1 known frame_shift_ins c.239_238 p.T80fs 0.000:0.001 NULL NULL - no_errors APOL3 HGNC ENSG00000128284 65 0 0 25 5 16.6667 SCUBE1 0 genome.wustl.edu 37 22 43634962 43634963 + Splice_Site INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 22 43634962 43634963 - G INS SCUBE1 ENST00000360835 human ensembl 74_37 -1 known splice_site_ins c.728-3_728-2 e7-2 1.000:1.000 - - - no_errors SCUBE1 HGNC ENSG00000159307 114 0 0 17 17 50 ALCAM 0 genome.wustl.edu 37 3 105250904 105250904 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 105250904 105250904 A - DEL ALCAM ENST00000306107 human ensembl 74_37 +1 known frame_shift_del c.453 p.K153fs 0.891 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 246 0 0 136 49 26.4865 SLC9C1 0 genome.wustl.edu 37 3 112005609 112005610 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 112005609 112005610 - A INS SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_ins c.30_29 p.S11fs 0.000:0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 64 0 0 33 12 26.6667 GMPS 0 genome.wustl.edu 37 3 155633847 155633849 + In_Frame_Del DEL GAG GAG - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 155633847 155633849 GAG - DEL GMPS ENST00000496455 human ensembl 74_37 +1 known in_frame_del c.1078_1080 p.E361in_frame_del 1.000:1.000:1.000 NULL pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 85 0 0 33 17 34 SI 0 genome.wustl.edu 37 3 164781250 164781250 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 164781250 164781250 A - DEL SI ENST00000264382 human ensembl 74_37 -1 known frame_shift_del c.887 p.L296fs 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 143 0 0 108 24 18.1818 SERPINI1 0 genome.wustl.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 167507159 167507159 A - DEL SERPINI1 ENST00000295777 human ensembl 74_37 +1 known frame_shift_del c.243 p.N83fs 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 139 0 0 67 24 26.3736 MECOM 0 genome.wustl.edu 37 3 168833257 168833257 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 168833257 168833257 T - DEL MECOM ENST00000494292 human ensembl 74_37 -1 known frame_shift_del c.2403 p.G802fs 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 87 0 0 53 11 17.1875 FETUB 0 genome.wustl.edu 37 3 186362543 186362544 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 186362543 186362544 - A INS FETUB ENST00000265029 human ensembl 74_37 +1 known frame_shift_ins c.428_429 p.K147fs 0.961:0.854 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 214 0 0 82 30 26.7857 GP5 0 genome.wustl.edu 37 3 194118899 194118899 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 194118899 194118899 C - DEL GP5 ENST00000323007 human ensembl 74_37 -1 known frame_shift_del c.113 p.G38fs 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 75 0 0 39 21 35 MUC4 0 genome.wustl.edu 37 3 195488372 195488372 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 195488372 195488372 A - DEL MUC4 ENST00000463781 human ensembl 74_37 -1 known frame_shift_del c.14597 p.F4866fs 0.169 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 323 1 0.308642 86 21 19.6262 ARPP21 0 genome.wustl.edu 37 3 35833708 35833708 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 35833708 35833708 A - DEL ARPP21 ENST00000476052 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARPP21 HGNC ENSG00000172995 50 0 0 28 13 31.7073 CCR8 0 genome.wustl.edu 37 3 39374508 39374508 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 39374508 39374508 A - DEL CCR8 ENST00000326306 human ensembl 74_37 +1 known frame_shift_del c.686 p.N230fs 0.865 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR8,prints_Chemokine_CXCR4,prints_Brdyknn_rcpt - no_errors CCR8 HGNC ENSG00000179934 115 0 0 72 25 25.7732 ULK4 0 genome.wustl.edu 37 3 41860985 41860985 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 41860985 41860985 T - DEL ULK4 ENST00000301831 human ensembl 74_37 -1 known frame_shift_del c.1778 p.K593fs 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 114 0 0 69 12 14.8148 EIF4E3 0 genome.wustl.edu 37 3 71739264 71739266 + In_Frame_Del DEL GAC GAC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 71739264 71739266 GAC - DEL EIF4E3 ENST00000425534 human ensembl 74_37 -1 known in_frame_del c.525_523 p.V175in_frame_del 0.984:1.000:0.997 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E3 HGNC ENSG00000163412 126 0 0 45 15 25 OGG1 0 genome.wustl.edu 37 3 9798837 9798837 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 9798837 9798837 G - DEL OGG1 ENST00000302003 human ensembl 74_37 +1 known frame_shift_del c.1058 p.G354fs 0.011 NULL pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 224 0 0 57 31 35.2273 IL17RC 0 genome.wustl.edu 37 3 9958948 9958948 + RNA DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 3 9958948 9958948 G - DEL IL17RC ENST00000498214 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IL17RC HGNC ENSG00000163702 28 0 0 8 7 46.6667 CENPE 0 genome.wustl.edu 37 4 104102618 104102618 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 104102618 104102618 A - DEL CENPE ENST00000509120 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors CENPE HGNC ENSG00000138778 49 0 0 38 19 33.3333 INTS12 0 genome.wustl.edu 37 4 106621122 106621122 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 106621122 106621122 A - DEL INTS12 ENST00000340139 human ensembl 74_37 -1 known frame_shift_del c.41 p.L14fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 357 1 0.27933 201 54 21.1765 LARP7 0 genome.wustl.edu 37 4 113578483 113578483 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 113578483 113578483 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1749 p.*583fs 1.000 NULL 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 LARP7 HGNC ENSG00000174720 36 0 0 19 10 34.4828 BOD1L1 0 genome.wustl.edu 37 4 13610188 13610189 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 13610188 13610189 - T INS BOD1L1 ENST00000040738 human ensembl 74_37 -1 known frame_shift_ins c.1708_1707 p.V569fs 1.000:1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 15 0 0 5 2 28.5714 CLGN 0 genome.wustl.edu 37 4 141327187 141327188 + Frame_Shift_Del DEL CT CT - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 141327187 141327188 CT - DEL CLGN ENST00000325617 human ensembl 74_37 -1 known frame_shift_del c.328_327 p.G110fs 1.000:1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 70 0 0 19 24 55.814 ADAM29 0 genome.wustl.edu 37 4 175898770 175898771 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 175898770 175898771 - A INS ADAM29 ENST00000359240 human ensembl 74_37 +1 known frame_shift_ins c.2094_2095 p.S700fs 0.000:0.005 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 70 0 0 35 14 28.5714 IRF2 0 genome.wustl.edu 37 4 185340707 185340708 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 185340707 185340708 - A INS IRF2 ENST00000393593 human ensembl 74_37 -1 known frame_shift_ins c.103_102 p.Q34fs 1.000:0.983 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 163 0 0 57 28 32.9412 GRK4 0 genome.wustl.edu 37 4 3015460 3015460 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 3015460 3015460 A - DEL GRK4 ENST00000398052 human ensembl 74_37 +1 known frame_shift_del c.646 p.K217fs 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 480 0 0 161 36 18.2741 GRK4 0 genome.wustl.edu 37 4 3040280 3040281 + RNA DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 3040280 3040281 AA - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003 - - - no_errors GRK4 HGNC ENSG00000125388 70 0 0 35 11 23.913 CNGA1 0 genome.wustl.edu 37 4 47939172 47939172 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 47939172 47939172 T - DEL CNGA1 ENST00000402813 human ensembl 74_37 -1 known frame_shift_del c.1546 p.T516fs 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 294 0 0 175 39 18.2243 WDFY3-AS1 0 genome.wustl.edu 37 4 85731542 85731545 + RNA DEL AAAA AAAA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 4 85731542 85731545 AAAA - DEL WDFY3-AS1 ENST00000510449 human ensembl 74_37 +1 known rna NULL NULL 0.009:0.004:0.002:0.071 - - - no_errors WDFY3-AS1 HGNC ENSG00000251260 8 0 0 8 3 27.2727 PPIP5K2 0 genome.wustl.edu 37 5 102537308 102537309 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 102537308 102537309 - A INS PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known frame_shift_ins c.3705_3706 p.N1237fs 0.977:0.999 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 56 0 0 18 12 40 SEMA6A 0 genome.wustl.edu 37 5 115782765 115782765 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 115782765 115782765 G - DEL SEMA6A ENST00000257414 human ensembl 74_37 -1 known frame_shift_del c.2688 p.V898fs 0.957 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 364 0 0 104 37 26.2411 SEC24A 0 genome.wustl.edu 37 5 134059335 134059335 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 134059335 134059335 T - DEL SEC24A ENST00000398844 human ensembl 74_37 +1 known frame_shift_del c.3142 p.F1049fs 1.000 NULL 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 SEC24A HGNC ENSG00000113615 230 0 0 92 32 25.8065 FAM13B 0 genome.wustl.edu 37 5 137284728 137284728 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 137284728 137284728 T - DEL FAM13B ENST00000033079 human ensembl 74_37 -1 known frame_shift_del c.2010 p.K670fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 220 0 0 109 44 28.7582 FNDC9 0 genome.wustl.edu 37 5 156769910 156769910 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 156769910 156769910 C - DEL FNDC9 ENST00000312349 human ensembl 74_37 -1 known frame_shift_del c.635 p.G212fs 0.000 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC ENSG00000172568 122 0 0 60 14 18.9189 FLT4 0 genome.wustl.edu 37 5 180058747 180058748 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 180058747 180058748 - G INS FLT4 ENST00000261937 human ensembl 74_37 -1 known frame_shift_ins c.90_89 p.T31fs 0.361:0.998 pfscan_Ig-like_dom,prints_VEGFR3_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 149 0 0 30 8 21.0526 LOC101928649 0 genome.wustl.edu 37 5 180684515 180684516 + RNA INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 180684515 180684516 - T INS LOC101928649 ENST00000417281 human ensembl 74_37 +1 known rna NULL NULL 0.030:0.042 - - - no_errors CTC-338M12.4 Clone_based_vega_gene ENSG00000233937 63 0 0 37 8 17.7778 OSMR 0 genome.wustl.edu 37 5 38923329 38923329 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 38923329 38923329 A - DEL OSMR ENST00000274276 human ensembl 74_37 +1 known frame_shift_del c.1843 p.T617fs 0.981 pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 112 0 0 59 12 16.9014 IPO11 0 genome.wustl.edu 37 5 61770245 61770245 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 61770245 61770245 T - DEL IPO11 ENST00000409296 human ensembl 74_37 +1 known frame_shift_del c.831 p.L279fs 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 160 0 0 70 28 28.5714 SREK1IP1 0 genome.wustl.edu 37 5 64020298 64020298 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 64020298 64020298 T - DEL SREK1IP1 ENST00000513458 human ensembl 74_37 -1 known frame_shift_del c.381 p.K129fs 0.967 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 52 0 0 33 12 26.6667 FCHO2 0 genome.wustl.edu 37 5 72264329 72264329 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 72264329 72264329 A - DEL FCHO2 ENST00000341845 human ensembl 74_37 +1 known frame_shift_del c.38 p.N15fs 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 35 0 0 12 4 25 TMEM171 0 genome.wustl.edu 37 5 72424240 72424240 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 5 72424240 72424240 C - DEL TMEM171 ENST00000454765 human ensembl 74_37 +1 known frame_shift_del c.664 p.P223fs 0.968 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 530 0 0 265 73 21.5976 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 87 0 0 32 28 46.6667 SHPRH 0 genome.wustl.edu 37 6 146266724 146266724 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 146266724 146266724 T - DEL SHPRH ENST00000367503 human ensembl 74_37 -1 known frame_shift_del c.1371 p.G458fs 1.000 pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15 pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 52 0 0 40 10 20 FGFR1OP 0 genome.wustl.edu 37 6 167438458 167438458 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 167438458 167438458 T - DEL FGFR1OP ENST00000496181 human ensembl 74_37 +1 known rna NULL NULL 0.043 - - - no_errors FGFR1OP HGNC ENSG00000213066 32 0 0 26 6 18.75 TBP 0 genome.wustl.edu 37 6 170876072 170876072 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 170876072 170876072 A - DEL TBP ENST00000230354 human ensembl 74_37 +1 known frame_shift_del c.652 p.M219fs 1.000 pfam_TBP,prints_TBP pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 59 0 0 23 4 14.8148 SCAND3 0 genome.wustl.edu 37 6 28554433 28554434 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 28554433 28554434 - C INS SCAND3 ENST00000452236 human ensembl 74_37 -1 known frame_shift_ins c.62_61 p.E21fs 0.008:0.011 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 142 0 0 54 22 28.9474 PPP1R10 0 genome.wustl.edu 37 6 30572795 30572795 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 30572795 30572795 T - DEL PPP1R10 ENST00000376511 human ensembl 74_37 -1 known frame_shift_del c.930 p.V311fs 0.999 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 101 0 0 38 5 11.6279 PRRT1 0 genome.wustl.edu 37 6 32118218 32118218 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 32118218 32118218 C - DEL PRRT1 ENST00000211413 human ensembl 74_37 -1 known frame_shift_del c.485 p.G162fs 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 53 0 0 20 7 25.9259 SLC26A8 0 genome.wustl.edu 37 6 35912064 35912065 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 35912064 35912065 - T INS SLC26A8 ENST00000355574 human ensembl 74_37 -1 known frame_shift_ins c.2526_2525 p.N842fs 0.000:0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 169 0 0 71 21 22.8261 FOXP4 0 genome.wustl.edu 37 6 41555186 41555186 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 41555186 41555186 C - DEL FOXP4 ENST00000307972 human ensembl 74_37 +1 known frame_shift_del c.808 p.L272fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 265 0 0 62 21 25.3012 HMGN3-AS1 0 genome.wustl.edu 37 6 79944244 79944244 + RNA DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 79944244 79944244 T - DEL HMGN3-AS1 ENST00000604516 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HMGN3-AS1 HGNC ENSG00000270362 246 0 0 114 34 22.973 TTK 0 genome.wustl.edu 37 6 80720630 80720630 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 80720630 80720630 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.569 p.K192fs 0.007 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 155 0 0 105 31 22.7941 HTR1E 0 genome.wustl.edu 37 6 87725847 87725847 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 6 87725847 87725847 C - DEL HTR1E ENST00000305344 human ensembl 74_37 +1 known frame_shift_del c.795 p.F268fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 404 1 0.246914 191 62 24.5059 SLC12A9 0 genome.wustl.edu 37 7 100424578 100424578 + RNA DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 100424578 100424578 C - DEL SLC12A9 ENST00000461016 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors SLC12A9 HGNC ENSG00000146828 13 0 0 1 4 80 COL26A1 0 genome.wustl.edu 37 7 101183269 101183269 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 101183269 101183269 C - DEL COL26A1 ENST00000313669 human ensembl 74_37 +1 known frame_shift_del c.543 p.D183fs 0.917 NULL pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors COL26A1 HGNC ENSG00000160963 119 0 0 23 7 23.3333 C7orf50 0 genome.wustl.edu 37 7 1037311 1037311 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 1037311 1037311 G - DEL C7orf50 ENST00000357429 human ensembl 74_37 -1 known frame_shift_del c.535 p.L179fs 0.001 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 85 0 0 25 14 35.8974 WNT2 0 genome.wustl.edu 37 7 116937798 116937798 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 116937798 116937798 C - DEL WNT2 ENST00000265441 human ensembl 74_37 -1 known frame_shift_del c.721 p.A241fs 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 162 0 0 75 34 31.1927 RBM28 0 genome.wustl.edu 37 7 127973348 127973349 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 127973348 127973349 - A INS RBM28 ENST00000223073 human ensembl 74_37 -1 known frame_shift_ins c.1015_1014 p.I338fs 1.000:0.997 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 100 0 0 38 16 29.6296 BRAF 0 genome.wustl.edu 37 7 140482926 140482927 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 140482926 140482927 - G INS BRAF ENST00000288602 human ensembl 74_37 -1 known frame_shift_ins c.1209_1208 p.A404fs 1.000:1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 77 0 0 45 11 19.6429 NOBOX 0 genome.wustl.edu 37 7 144098496 144098496 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 144098496 144098496 G - DEL NOBOX ENST00000467773 human ensembl 74_37 -1 known frame_shift_del c.487 p.R163fs 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 69 0 0 26 9 25.7143 ZNF746 0 genome.wustl.edu 37 7 149191320 149191320 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 149191320 149191320 G - DEL ZNF746 ENST00000458143 human ensembl 74_37 -1 known frame_shift_del c.299 p.P100fs 1.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF746 HGNC ENSG00000181220 425 0 0 129 35 21.3415 SSPO 0 genome.wustl.edu 37 7 149485459 149485459 + RNA DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 149485459 149485459 C - DEL SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 102 0 0 35 5 12.5 PMS2CL 0 genome.wustl.edu 37 7 6791127 6791127 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 6791127 6791127 A - DEL PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors PMS2CL HGNC ENSG00000187953 37 0 0 30 11 26.8293 STEAP4 0 genome.wustl.edu 37 7 87912360 87912360 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 87912360 87912360 G - DEL STEAP4 ENST00000380079 human ensembl 74_37 -1 known frame_shift_del c.580 p.L194fs 0.252 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP4 HGNC ENSG00000127954 124 0 0 49 18 26.8657 CYP51A1 0 genome.wustl.edu 37 7 91752448 91752450 + In_Frame_Del DEL AAG AAG - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 7 91752448 91752450 AAG - DEL CYP51A1 ENST00000003100 human ensembl 74_37 -1 known in_frame_del c.1072_1070 p.P357in_frame_del 0.508:0.059:1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 194 0 0 65 27 29.3478 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 100990178 100990178 T - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3486 p.K1162fs 0.010 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 86 0 0 61 18 22.7848 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 203 0 0 129 26 16.7742 MTMR9 0 genome.wustl.edu 37 8 11162509 11162509 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 11162509 11162509 A - DEL MTMR9 ENST00000221086 human ensembl 74_37 +1 known frame_shift_del c.577 p.N195fs 0.997 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 103 1 0.961538 60 19 24.0506 ATAD2 0 genome.wustl.edu 37 8 124384892 124384893 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 124384892 124384893 - T INS ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_ins c.355_354 p.E118fs 1.000:0.995 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 296 0 0 147 23 13.5294 PHF20L1 0 genome.wustl.edu 37 8 133836263 133836264 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 133836263 133836264 - A INS PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative frame_shift_ins c.1594_1595 p.V535fs 1.000:1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 127 0 0 107 25 18.9394 PTK2 0 genome.wustl.edu 37 8 141754889 141754891 + RNA DEL AAA AAA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 141754889 141754891 AAA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005 - - - no_errors PTK2 HGNC ENSG00000169398 31 0 0 37 8 17.7778 ZNF16 0 genome.wustl.edu 37 8 146157244 146157244 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 146157244 146157244 T - DEL ZNF16 ENST00000276816 human ensembl 74_37 -1 known frame_shift_del c.929 p.K310fs 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 124 0 0 91 15 14.1509 FZD3 0 genome.wustl.edu 37 8 28385158 28385159 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 28385158 28385159 - T INS FZD3 ENST00000240093 human ensembl 74_37 +1 known frame_shift_ins c.881_882 p.T297fs 1.000:1.000 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 FZD3 HGNC ENSG00000104290 160 0 0 95 24 20.1681 GPR124 0 genome.wustl.edu 37 8 37691605 37691605 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 37691605 37691605 G - DEL GPR124 ENST00000412232 human ensembl 74_37 +1 known frame_shift_del c.1567 p.A525fs 0.996 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 105 0 0 37 22 37.2881 PRKDC 0 genome.wustl.edu 37 8 48743276 48743276 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 48743276 48743276 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.8284 p.M2762fs 1.000 NULL 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 181 0 0 57 29 33.7209 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 228 0 0 119 30 20.1342 NANS 0 genome.wustl.edu 37 9 100823160 100823161 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 100823160 100823161 - G INS NANS ENST00000210444 human ensembl 74_37 +1 known frame_shift_ins c.229_230 p.K79fs 1.000:1.000 pfam_Neu5Ac_N pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III - no_errors NANS HGNC ENSG00000095380 497 0 0 169 44 20.6573 UGCG 0 genome.wustl.edu 37 9 114691694 114691694 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 114691694 114691694 A - DEL UGCG ENST00000474306 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors UGCG HGNC ENSG00000148154 9 0 0 22 6 21.4286 MIR4668 0 genome.wustl.edu 37 9 114694384 114694385 + RNA DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 114694384 114694385 AA - DEL MIR4668 ENST00000582284 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR4668 HGNC ENSG00000266315 43 0 0 51 12 19.0476 GSN 0 genome.wustl.edu 37 9 124074857 124074857 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 124074857 124074857 A - DEL GSN ENST00000485767 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSN HGNC ENSG00000148180 14 0 0 10 2 16.6667 DAB2IP 0 genome.wustl.edu 37 9 124522230 124522232 + In_Frame_Del DEL AAG AAG - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 124522230 124522232 AAG - DEL DAB2IP ENST00000408936 human ensembl 74_37 +1 known in_frame_del c.682_684 p.K230in_frame_del 1.000:1.000:1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 84 0 0 31 10 24.3902 RPL12 0 genome.wustl.edu 37 9 130211589 130211589 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 130211589 130211589 G - DEL RPL12 ENST00000361436 human ensembl 74_37 -1 known frame_shift_del c.263 p.P88fs 1.000 pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11 pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11 - no_errors RPL12 HGNC ENSG00000197958 92 0 0 40 10 20 SH2D3C 0 genome.wustl.edu 37 9 130507272 130507273 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 130507272 130507273 - G INS SH2D3C ENST00000314830 human ensembl 74_37 -1 known frame_shift_ins c.1371_1370 p.T459fs 0.814:0.758 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 200 0 0 76 19 20 UCK1 0 genome.wustl.edu 37 9 134401378 134401378 + RNA DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 134401378 134401378 G - DEL UCK1 ENST00000484876 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors UCK1 HGNC ENSG00000130717 305 0 0 103 33 24.2647 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 135158548 135158549 AA - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.003 - - - no_errors SETX HGNC ENSG00000107290 20 0 0 14 8 36.3636 SEC16A 0 genome.wustl.edu 37 9 139370379 139370379 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 139370379 139370379 A - DEL SEC16A ENST00000313050 human ensembl 74_37 -1 known frame_shift_del c.1689 p.F563fs 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 45 0 0 16 5 23.8095 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 128 0 0 36 16 30.7692 MLLT3 0 genome.wustl.edu 37 9 20346378 20346380 + RNA DEL AAA AAA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 20346378 20346380 AAA - DEL MLLT3 ENST00000380323 human ensembl 74_37 -1 known rna NULL NULL 0.966:0.950:0.903 - - - no_errors MLLT3 HGNC ENSG00000171843 29 0 0 25 2 7.40741 DCTN3 0 genome.wustl.edu 37 9 34615897 34615899 + RNA DEL AAA AAA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 34615897 34615899 AAA - DEL DCTN3 ENST00000479399 human ensembl 74_37 -1 known rna NULL NULL 0.008:0.011:0.013 - - - no_errors DCTN3 HGNC ENSG00000137100 15 0 0 7 5 41.6667 RLN1 0 genome.wustl.edu 37 9 5335330 5335330 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 5335330 5335330 T - DEL RLN1 ENST00000223862 human ensembl 74_37 -1 known frame_shift_del c.479 p.K160fs 0.862 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC ENSG00000107018 121 0 0 65 23 26.1364 GDA 0 genome.wustl.edu 37 9 74810422 74810422 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 74810422 74810422 T - DEL GDA ENST00000238018 human ensembl 74_37 +1 known frame_shift_del c.130 p.L45fs 1.000 tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 50 0 0 29 9 23.6842 PCSK5 0 genome.wustl.edu 37 9 78969093 78969093 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 78969093 78969093 C - DEL PCSK5 ENST00000545128 human ensembl 74_37 +1 known frame_shift_del c.5131 p.S1713fs 0.000 superfamily_Growth_fac_rcpt_N_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 29 0 0 12 3 20 TLE1 0 genome.wustl.edu 37 9 84208132 84208132 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 84208132 84208132 G - DEL TLE1 ENST00000376499 human ensembl 74_37 -1 known frame_shift_del c.1389 p.D464fs 0.002 superfamily_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 TLE1 HGNC ENSG00000196781 197 1 0.505051 81 18 18.1818 ZCCHC6 0 genome.wustl.edu 37 9 88923492 88923493 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 88923492 88923493 - T INS ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known frame_shift_ins c.3690_3689 p.N1230fs 1.000:1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 190 0 0 117 23 16.4286 IARS 0 genome.wustl.edu 37 9 95003101 95003101 + RNA DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 95003101 95003101 A - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors IARS HGNC ENSG00000196305 23 0 0 21 17 44.7368 ANKRD19P 0 genome.wustl.edu 37 9 95599087 95599088 + RNA INS - - CA TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 9 95599087 95599088 - CA INS ANKRD19P ENST00000464387 human ensembl 74_37 +1 known rna NULL NULL 0.162:0.575 - - - no_errors ANKRD19P HGNC ENSG00000187984 129 0 0 48 9 15.7895 SASH3 0 genome.wustl.edu 37 X 128922006 128922006 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 128922006 128922006 C - DEL SASH3 ENST00000356892 human ensembl 74_37 +1 known frame_shift_del c.113 p.V40fs 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC ENSG00000122122 116 0 0 22 22 50 PRRG3 0 genome.wustl.edu 37 X 150869296 150869297 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 150869296 150869297 - G INS PRRG3 ENST00000370353 human ensembl 74_37 +1 known frame_shift_ins c.487_488 p.R166fs 0.000:0.000 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 41 0 0 15 10 40 MED14 0 genome.wustl.edu 37 X 40588606 40588607 + RNA DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 40588606 40588607 AA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 38 0 0 13 8 38.0952 ARAF 0 genome.wustl.edu 37 X 47426121 47426126 + In_Frame_Del DEL CCACTC CCACTC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 CCACTC CCACTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 47426121 47426126 CCACTC - DEL ARAF ENST00000377045 human ensembl 74_37 +1 known in_frame_del c.641_646 p.TP215in_frame_del 1.000:1.000:1.000:1.000:0.914:1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 46 0 0 11 15 57.6923 KDM5C 0 genome.wustl.edu 37 X 53222309 53222309 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 53222309 53222309 G - DEL KDM5C ENST00000375401 human ensembl 74_37 -1 known frame_shift_del c.4523 p.P1508fs 0.002 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,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 KDM5C HGNC ENSG00000126012 52 0 0 9 10 52.6316 IL2RG 0 genome.wustl.edu 37 X 70327613 70327614 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 70327613 70327614 - G INS IL2RG ENST00000374202 human ensembl 74_37 -1 known frame_shift_ins c.1083_1082 p.C362fs 0.869:0.874 NULL pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 41 0 0 9 11 55 XIST 0 genome.wustl.edu 37 X 73071941 73071943 + RNA DEL AAA AAA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 73071941 73071943 AAA - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.531:0.460:0.005 - - - no_errors XIST HGNC ENSG00000229807 9 0 0 2 7 77.7778 MAGEE2 0 genome.wustl.edu 37 X 75004754 75004754 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f X 75004754 75004754 G - DEL MAGEE2 ENST00000373359 human ensembl 74_37 -1 known frame_shift_del c.133 p.Q45fs 0.008 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 57 0 0 14 10 41.6667 USP9Y 0 genome.wustl.edu 37 Y 14968773 14968774 + RNA DEL AA AA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f Y 14968773 14968774 AA - DEL USP9Y ENST00000471409 human ensembl 74_37 +1 known rna NULL NULL 0.995:0.996 - - - no_errors USP9Y HGNC ENSG00000114374 17 0 0 14 9 39.1304