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 AGL 0 genome.wustl.edu 37 1 100336320 100336320 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 100336320 100336320 C T SNP AGL ENST00000294724 human ensembl 74_37 +1 known nonsense c.853 p.R285* 1.000 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 65 0 0 45 7 13.4615 SASS6 0 genome.wustl.edu 37 1 100568561 100568561 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 100568561 100568561 G T SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.1624 p.P542T 0.434 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 186 0 0 106 29 21.4815 VCAM1 0 genome.wustl.edu 37 1 101186087 101186087 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 101186087 101186087 T C SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known silent c.120 p.G40 0.249 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 204 0 0 109 37 25.3425 SARS 0 genome.wustl.edu 37 1 109774120 109774120 + RNA SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 109774120 109774120 G T SNP SARS ENST00000471705 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SARS HGNC ENSG00000031698 41 0 0 16 7 30.4348 SARS 0 genome.wustl.edu 37 1 109777940 109777940 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 109777940 109777940 C T SNP SARS ENST00000369923 human ensembl 74_37 +1 known missense c.856 p.R286W 0.953 pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,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 166 0 0 126 30 19.2308 CELSR2 0 genome.wustl.edu 37 1 109806835 109806835 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 109806835 109806835 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.5137 p.G1713S 0.980 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 119 0 0 80 14 14.8936 PSRC1 0 genome.wustl.edu 37 1 109824371 109824371 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 109824371 109824371 G A SNP PSRC1 ENST00000409138 human ensembl 74_37 -1 known missense c.389 p.T130I 1.000 NULL NULL - no_errors PSRC1 HGNC ENSG00000134222 184 1 0.540541 114 26 18.5714 RBM15 0 genome.wustl.edu 37 1 110883026 110883026 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 110883026 110883026 C T SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known silent c.999 p.Y333 0.106 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 166 0 0 105 14 11.7647 RAP1A 0 genome.wustl.edu 37 1 112246040 112246040 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 112246040 112246040 C T SNP RAP1A ENST00000356415 human ensembl 74_37 +1 known missense c.266 p.T89M 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP1A HGNC ENSG00000116473 135 0 0 78 20 20.4082 TRIM33 0 genome.wustl.edu 37 1 114969882 114969882 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 114969882 114969882 C T SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.1337 p.R446Q 0.978 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 157 0 0 104 20 16.129 PTCHD2 0 genome.wustl.edu 37 1 11589888 11589888 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 11589888 11589888 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2974 p.V992M 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 83 0 0 52 9 14.7541 NHLH2 0 genome.wustl.edu 37 1 116380938 116380938 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 116380938 116380938 G A SNP NHLH2 ENST00000320238 human ensembl 74_37 -1 known missense c.56 p.S19L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NHLH2 HGNC ENSG00000177551 41 0 0 28 5 15.1515 UBE2J2 0 genome.wustl.edu 37 1 1190730 1190730 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 1190730 1190730 C A SNP UBE2J2 ENST00000400930 human ensembl 74_37 -1 known silent c.681 p.G227 0.105 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC ENSG00000160087 154 0 0 96 27 21.9512 WARS2 0 genome.wustl.edu 37 1 119575803 119575803 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 119575803 119575803 C T SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.814 p.V272M 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 129 0 0 72 26 26.5306 ADAM30 0 genome.wustl.edu 37 1 120436658 120436658 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 120436658 120436658 G A SNP ADAM30 ENST00000369400 human ensembl 74_37 -1 known nonsense c.2302 p.Q768* 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 613 0 0 394 89 18.4265 NOTCH2 0 genome.wustl.edu 37 1 120462980 120462980 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 120462980 120462980 A T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.5351 p.I1784N 0.339 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 130 0 0 77 23 23 MFN2 0 genome.wustl.edu 37 1 12061540 12061540 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 12061540 12061540 G A SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.899 p.R300H 1.000 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 55 0 0 27 7 20.5882 PRDM2 0 genome.wustl.edu 37 1 14106911 14106911 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 14106911 14106911 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.2621 p.T874M 0.219 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 155 0 0 101 34 25.1852 PDE4DIP 0 genome.wustl.edu 37 1 144922006 144922006 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 144922006 144922006 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known silent c.1023 p.L341 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 361 0 0 227 33 12.6923 HFE2 0 genome.wustl.edu 37 1 145416569 145416569 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 145416569 145416569 C T SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known missense c.914 p.A305V 0.991 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 142 0 0 123 8 6.10687 ANKRD35 0 genome.wustl.edu 37 1 145562723 145562723 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 145562723 145562723 G A SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.2411 p.S804N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 28 0 0 25 7 21.875 GJA5 0 genome.wustl.edu 37 1 147231341 147231341 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 147231341 147231341 G A SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known silent c.6 p.G2 0.422 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 128 0 0 83 13 13.5417 MTMR11 0 genome.wustl.edu 37 1 149905749 149905749 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 149905749 149905749 G A SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known missense c.770 p.P257L 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 343 1 0.290698 205 45 18 OTUD7B 0 genome.wustl.edu 37 1 149939441 149939441 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 149939441 149939441 G A SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.280 p.R94C 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 69 0 0 60 18 23.0769 ANP32E 0 genome.wustl.edu 37 1 150199124 150199124 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 150199124 150199124 C T SNP ANP32E ENST00000314136 human ensembl 74_37 -1 known missense c.497 p.G166D 0.657 NULL pfam_Leu-rich_rpt - no_errors ANP32E HGNC ENSG00000143401 99 0 0 50 10 16.6667 TARS2 0 genome.wustl.edu 37 1 150476841 150476841 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 150476841 150476841 C T SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.1648 p.R550W 0.955 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 83 0 0 52 10 16.129 TARS2 0 genome.wustl.edu 37 1 150479415 150479415 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 150479415 150479415 A G SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.2032 p.K678E 0.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 105 1 0.943396 61 19 23.75 TCHH 0 genome.wustl.edu 37 1 152081942 152081942 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 152081942 152081942 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3751 p.R1251W 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 170 0 0 116 35 23.1788 FLG2 0 genome.wustl.edu 37 1 152329498 152329498 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 152329498 152329498 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.764 p.Q255R 0.922 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 293 0 0 191 53 21.7213 DENND4B 0 genome.wustl.edu 37 1 153912194 153912194 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 153912194 153912194 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1690 p.R564C 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 116 0 0 60 13 17.8082 SLC39A1 0 genome.wustl.edu 37 1 153932959 153932959 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 153932959 153932959 G A SNP SLC39A1 ENST00000310483 human ensembl 74_37 -1 known missense c.590 p.A197V 0.989 pfam_ZIP pfam_ZIP - no_errors SLC39A1 HGNC ENSG00000143570 83 0 0 52 13 20 PKLR 0 genome.wustl.edu 37 1 155264954 155264954 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 155264954 155264954 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.647 p.R216H 0.951 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 205 1 0.485437 111 37 25 ARHGEF2 0 genome.wustl.edu 37 1 155927507 155927507 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 155927507 155927507 C T SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.1715 p.R572H 0.999 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,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 ARHGEF2 HGNC ENSG00000116584 92 0 0 54 14 20.5882 BCAN 0 genome.wustl.edu 37 1 156621478 156621478 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 156621478 156621478 C A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.1294 p.L432I 0.834 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 192 1 0.518135 110 40 26.6667 CRABP2 0 genome.wustl.edu 37 1 156670692 156670692 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 156670692 156670692 G A SNP CRABP2 ENST00000368221 human ensembl 74_37 -1 known nonsense c.223 p.Q75* 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors CRABP2 HGNC ENSG00000143320 128 0 0 69 28 28.866 ISG20L2 0 genome.wustl.edu 37 1 156693132 156693132 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 156693132 156693132 C T SNP ISG20L2 ENST00000472824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ISG20L2 HGNC ENSG00000143319 368 0 0 213 59 21.6912 SH2D2A 0 genome.wustl.edu 37 1 156779494 156779494 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 156779494 156779494 C T SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known missense c.703 p.A235T 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 284 0 0 186 56 23.1405 OR6N1 0 genome.wustl.edu 37 1 158736446 158736446 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 158736446 158736446 T C SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known silent c.27 p.V9 0.559 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 59 0 0 42 9 17.6471 UHMK1 0 genome.wustl.edu 37 1 162470799 162470799 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 162470799 162470799 A G SNP UHMK1 ENST00000489294 human ensembl 74_37 +1 known missense c.658 p.T220A 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_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom - no_errors UHMK1 HGNC ENSG00000152332 93 0 0 73 4 5.19481 SPEN 0 genome.wustl.edu 37 1 16261327 16261327 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 16261327 16261327 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.8592 p.S2864 0.103 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 84 0 0 46 10 17.8571 CLCNKB 0 genome.wustl.edu 37 1 16380242 16380242 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 16380242 16380242 C T SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known silent c.1731 p.A577 0.015 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 CLCNKB HGNC ENSG00000184908 91 0 0 61 12 16.4384 LRRC52 0 genome.wustl.edu 37 1 165513785 165513785 + Nonsense_Mutation SNP T T A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 165513785 165513785 T A SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known nonsense c.252 p.C84* 0.084 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 374 1 0.266667 231 77 25 NECAP2 0 genome.wustl.edu 37 1 16774560 16774560 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 16774560 16774560 C T SNP NECAP2 ENST00000443980 human ensembl 74_37 +1 known missense c.304 p.R102W 0.997 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP2 HGNC ENSG00000157191 318 0 0 157 54 25.5924 TBX19 0 genome.wustl.edu 37 1 168282167 168282167 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 168282167 168282167 C T SNP TBX19 ENST00000367821 human ensembl 74_37 +1 known missense c.1274 p.A425V 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX19 HGNC ENSG00000143178 103 0 0 78 13 14.2857 NME7 0 genome.wustl.edu 37 1 169292503 169292503 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 169292503 169292503 G A SNP NME7 ENST00000367811 human ensembl 74_37 -1 known missense c.130 p.R44C 1.000 smart_Uncharacterised_DM10,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 210 1 0.473934 135 19 12.3377 BLZF1 0 genome.wustl.edu 37 1 169347718 169347718 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 169347718 169347718 C T SNP BLZF1 ENST00000329281 human ensembl 74_37 +1 known missense c.619 p.R207C 1.000 pfam_Hsk3_like pfam_Hsk3_like - no_errors BLZF1 HGNC ENSG00000117475 246 0 0 113 22 16.2963 PRRX1 0 genome.wustl.edu 37 1 170705416 170705416 + RNA SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 170705416 170705416 A G SNP PRRX1 ENST00000476867 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors PRRX1 HGNC ENSG00000116132 25 0 0 20 4 16.6667 PRRC2C 0 genome.wustl.edu 37 1 171511137 171511137 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 171511137 171511137 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.4532 p.R1511Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 123 0 0 76 21 21.6495 ZNF648 0 genome.wustl.edu 37 1 182026465 182026465 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 182026465 182026465 C T SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel silent c.681 p.A227 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 42 0 0 16 7 30.4348 TEDDM1 0 genome.wustl.edu 37 1 182369414 182369414 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 182369414 182369414 C A SNP TEDDM1 ENST00000367565 human ensembl 74_37 -1 known missense c.207 p.W69C 1.000 NULL pfam_DUF716_TMEM45 - no_errors TEDDM1 HGNC ENSG00000203730 165 0 0 72 26 26.5306 RGS16 0 genome.wustl.edu 37 1 182569617 182569617 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 182569617 182569617 G A SNP RGS16 ENST00000367558 human ensembl 74_37 -1 known missense c.419 p.T140M 0.999 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS16 HGNC ENSG00000143333 125 0 0 85 19 18.2692 COLGALT2 0 genome.wustl.edu 37 1 183933050 183933050 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 183933050 183933050 G A SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known nonsense c.937 p.Q313* 0.997 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 116 0 0 63 10 13.6986 FAM129A 0 genome.wustl.edu 37 1 184764680 184764680 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 184764680 184764680 C T SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.2218 p.V740I 0.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 316 0 0 204 63 23.5955 HMCN1 0 genome.wustl.edu 37 1 185958730 185958730 + Silent SNP C C G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 185958730 185958730 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.3159 p.A1053 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 84 0 0 53 22 29.3333 HMCN1 0 genome.wustl.edu 37 1 185966629 185966629 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 185966629 185966629 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.3847 p.R1283C 1.000 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_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 155 1 0.641026 78 17 17.8947 HMCN1 0 genome.wustl.edu 37 1 186106003 186106003 + Nonsense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 186106003 186106003 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.13516 p.E4506* 1.000 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_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 246 0 0 133 37 21.7647 PRG4 0 genome.wustl.edu 37 1 186276379 186276379 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 186276379 186276379 A G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1528 p.T510A 0.000 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 222 0 0 137 41 23.0337 PRG4 0 genome.wustl.edu 37 1 186277099 186277099 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 186277099 186277099 G A SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.2248 p.A750T 0.000 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 335 0 0 167 57 25.4464 TPR 0 genome.wustl.edu 37 1 186292897 186292897 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 186292897 186292897 G A SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.6218 p.S2073L 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 230 0 0 147 12 7.54717 CRB1 0 genome.wustl.edu 37 1 197404527 197404527 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 197404527 197404527 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.3534 p.I1178 0.010 smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 80 0 0 54 12 18.1818 ENSG00000206637 0 genome.wustl.edu 37 1 201947684 201947684 + RNA SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 201947684 201947684 T C SNP ENSG00000206637 ENST00000383910 human ensembl 74_37 +1 novel rna NULL NULL 0.988 - - - no_errors SNORA70 RFAM ENSG00000206637 108 0 0 74 23 23.7113 PPP1R12B 0 genome.wustl.edu 37 1 202464774 202464774 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 202464774 202464774 A G SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known silent c.2412 p.R804 0.105 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 78 0 0 63 5 7.35294 CYB5R1 0 genome.wustl.edu 37 1 202934510 202934510 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 202934510 202934510 T C SNP CYB5R1 ENST00000367249 human ensembl 74_37 -1 known missense c.464 p.Y155C 0.993 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC ENSG00000159348 396 1 0.251889 232 64 21.6216 TMEM183A 0 genome.wustl.edu 37 1 202990020 202990020 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 202990020 202990020 G A SNP TMEM183A ENST00000367242 human ensembl 74_37 +1 known missense c.889 p.V297I 1.000 NULL superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 216 0 0 123 38 23.6025 PPFIA4 0 genome.wustl.edu 37 1 203033065 203033065 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 203033065 203033065 G A SNP PPFIA4 ENST00000414050 human ensembl 74_37 +1 known missense c.2105 p.R702H 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 108 0 0 55 22 28.5714 PLEKHA6 0 genome.wustl.edu 37 1 204234077 204234077 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 204234077 204234077 G A SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.374 p.T125M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 298 1 0.334448 195 48 19.7531 CDK18 0 genome.wustl.edu 37 1 205499569 205499569 + RNA SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 205499569 205499569 G T SNP CDK18 ENST00000459862 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CDK18 HGNC ENSG00000117266 32 0 0 22 9 29.0323 CDK18 0 genome.wustl.edu 37 1 205500575 205500575 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 205500575 205500575 C T SNP CDK18 ENST00000459862 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CDK18 HGNC ENSG00000117266 56 0 0 20 7 25.9259 MIR205HG 0 genome.wustl.edu 37 1 209603835 209603835 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 209603835 209603835 C T SNP MIR205HG ENST00000429156 human ensembl 74_37 +1 known rna NULL NULL 0.146 - - - no_errors MIR205HG HGNC ENSG00000230937 163 0 0 110 18 14.0625 LAMB3 0 genome.wustl.edu 37 1 209807865 209807865 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 209807865 209807865 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.491 p.R164Q 0.999 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 102 0 0 75 14 15.7303 PRKCZ 0 genome.wustl.edu 37 1 2103590 2103590 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 2103590 2103590 G A SNP PRKCZ ENST00000378567 human ensembl 74_37 +1 known silent c.1158 p.A386 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,pirsf_PKC_zeta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,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_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 76 0 0 40 14 25.9259 HHAT 0 genome.wustl.edu 37 1 210761245 210761245 + Nonsense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 210761245 210761245 T G SNP HHAT ENST00000391905 human ensembl 74_37 +1 known nonsense c.1047 p.Y349* 0.932 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 121 0 0 74 7 8.64198 KCNH1 0 genome.wustl.edu 37 1 211307209 211307209 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 211307209 211307209 C T SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.79 p.D27N 1.000 superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 201 0 0 123 24 16.3265 PROX1 0 genome.wustl.edu 37 1 214170906 214170906 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 214170906 214170906 C T SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1028 p.P343L 0.909 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 138 0 0 70 13 15.6627 CENPF 0 genome.wustl.edu 37 1 214818951 214818951 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 214818951 214818951 C T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.6038 p.T2013M 0.092 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 150 0 0 99 19 16.1017 KCTD3 0 genome.wustl.edu 37 1 215792267 215792267 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 215792267 215792267 C A SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known silent c.1602 p.S534 0.736 smart_WD40_repeat pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 145 0 0 78 28 26.4151 TGFB2 0 genome.wustl.edu 37 1 218607536 218607536 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 218607536 218607536 A G SNP TGFB2 ENST00000366929 human ensembl 74_37 +1 known missense c.707 p.H236R 0.688 pirsf_TGF-beta,pfam_TGF-b_N,prints_TGF-beta pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 152 0 0 94 29 23.5772 EPRS 0 genome.wustl.edu 37 1 220162058 220162058 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 220162058 220162058 C T SNP EPRS ENST00000366923 human ensembl 74_37 -1 known silent c.2649 p.S883 0.007 NULL pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 229 2 0.865801 137 44 24.3094 TMEM63A 0 genome.wustl.edu 37 1 226040398 226040398 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 226040398 226040398 A G SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known missense c.1870 p.Y624H 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 65 0 0 45 5 10 ARF1 0 genome.wustl.edu 37 1 228285717 228285717 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 228285717 228285717 G A SNP ARF1 ENST00000470558 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ARF1 HGNC ENSG00000143761 85 0 0 65 8 10.9589 MRPL55 0 genome.wustl.edu 37 1 228294490 228294490 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 228294490 228294490 G A SNP MRPL55 ENST00000366731 human ensembl 74_37 -1 known nonsense c.466 p.R156* 0.317 pfam_Ribosomal_L55_mit pfam_Ribosomal_L55_mit - no_errors MRPL55 HGNC ENSG00000162910 190 0 0 113 30 20.979 OBSCN 0 genome.wustl.edu 37 1 228529196 228529196 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 228529196 228529196 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.17915 p.W5972L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 32 0 0 18 4 18.1818 OBSCN 0 genome.wustl.edu 37 1 228547796 228547796 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 228547796 228547796 C T SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known silent c.10560 p.R3520 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 29 0 0 18 4 18.1818 TRIM11 0 genome.wustl.edu 37 1 228582822 228582822 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 228582822 228582822 C T SNP TRIM11 ENST00000284551 human ensembl 74_37 -1 known missense c.991 p.V331M 0.903 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC ENSG00000154370 35 0 0 15 7 31.8182 RHOU 0 genome.wustl.edu 37 1 228879181 228879181 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 228879181 228879181 C T SNP RHOU ENST00000366691 human ensembl 74_37 +1 known silent c.471 p.I157 1.000 pfam_Small_GTPase,pfam_MIRO-like,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,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 RHOU HGNC ENSG00000116574 230 0 0 121 39 24.375 CAPN9 0 genome.wustl.edu 37 1 230928178 230928178 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 230928178 230928178 G A SNP CAPN9 ENST00000271971 human ensembl 74_37 +1 known missense c.1729 p.G577S 0.998 smart_EF_hand_dom pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN9 HGNC ENSG00000135773 200 0 0 126 28 18.1818 EGLN1 0 genome.wustl.edu 37 1 231503356 231503356 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 231503356 231503356 T C SNP EGLN1 ENST00000366641 human ensembl 74_37 -1 known missense c.1175 p.D392G 1.000 NULL pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND - no_errors EGLN1 HGNC ENSG00000135766 133 0 0 81 17 17.3469 TARBP1 0 genome.wustl.edu 37 1 234541716 234541716 + Nonsense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 234541716 234541716 C A SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel nonsense c.3922 p.E1308* 0.988 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 166 1 0.598802 92 22 19.2982 HNRNPR 0 genome.wustl.edu 37 1 23640194 23640194 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 23640194 23640194 A G SNP HNRNPR ENST00000374616 human ensembl 74_37 -1 known missense c.1028 p.V343A 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 78 0 0 51 13 20.3125 ACTN2 0 genome.wustl.edu 37 1 236907942 236907942 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 236907942 236907942 G T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1272 p.L424F 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 61 0 0 33 9 21.4286 RYR2 0 genome.wustl.edu 37 1 237664023 237664023 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 237664023 237664023 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.2210 p.R737H 0.599 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,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 473 0 0 288 66 18.6441 OPN3 0 genome.wustl.edu 37 1 241757740 241757740 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 241757740 241757740 C T SNP OPN3 ENST00000366554 human ensembl 74_37 -1 known missense c.1199 p.R400H 0.849 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OPN3 HGNC ENSG00000054277 187 0 0 101 26 20.4724 CHML 0 genome.wustl.edu 37 1 241797190 241797190 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 241797190 241797190 C T SNP CHML ENST00000366553 human ensembl 74_37 -1 known missense c.1879 p.A627T 0.000 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 257 0 0 174 49 21.9731 SDCCAG8 0 genome.wustl.edu 37 1 243433519 243433519 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 243433519 243433519 C T SNP SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known silent c.180 p.D60 0.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 60 0 0 39 15 27.7778 MYOM3 0 genome.wustl.edu 37 1 24416564 24416564 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 24416564 24416564 C T SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.1480 p.A494T 0.361 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 81 0 0 41 11 21.1538 C1orf101 0 genome.wustl.edu 37 1 244769065 244769065 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 244769065 244769065 A T SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known missense c.1919 p.D640V 0.044 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 119 1 0.833333 93 13 12.2642 AHCTF1 0 genome.wustl.edu 37 1 247048893 247048893 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 247048893 247048893 G A SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.2589 p.G863 0.957 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 51 0 0 21 7 25 OR2AK2 0 genome.wustl.edu 37 1 248129152 248129152 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 248129152 248129152 A G SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.519 p.I173M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 319 0 0 220 19 7.94979 OR2T6 0 genome.wustl.edu 37 1 248551324 248551324 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 248551324 248551324 C T SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.415 p.R139W 0.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 136 0 0 78 20 20.4082 EPB41 0 genome.wustl.edu 37 1 29342251 29342251 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 29342251 29342251 C T SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known missense c.877 p.P293S 1.000 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 102 0 0 37 11 22.9167 ACTRT2 0 genome.wustl.edu 37 1 2938800 2938800 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 2938800 2938800 G A SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.550 p.V184M 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 106 0 0 70 19 21.3483 PEF1 0 genome.wustl.edu 37 1 32096261 32096261 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 32096261 32096261 G A SNP PEF1 ENST00000373703 human ensembl 74_37 -1 known missense c.808 p.L270F 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors PEF1 HGNC ENSG00000162517 52 0 0 36 8 18.1818 BAI2 0 genome.wustl.edu 37 1 32205538 32205538 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 32205538 32205538 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.2156 p.T719I 1.000 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_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 62 0 0 41 9 18 PRDM16 0 genome.wustl.edu 37 1 3319548 3319548 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 3319548 3319548 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.870 p.F290 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 94 0 0 56 14 20 YARS 0 genome.wustl.edu 37 1 33245896 33245896 + RNA SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 33245896 33245896 T C SNP YARS ENST00000490826 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors YARS HGNC ENSG00000134684 104 0 0 71 21 22.8261 MEAF6 0 genome.wustl.edu 37 1 37961520 37961520 + Splice_Site SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 37961520 37961520 C T SNP MEAF6 ENST00000373075 human ensembl 74_37 -1 known splice_site c.564-1 e7-1 1.000 - - - no_errors MEAF6 HGNC ENSG00000163875 159 0 0 95 26 21.4876 GNL2 0 genome.wustl.edu 37 1 38059433 38059433 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 38059433 38059433 C T SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known missense c.79 p.A27T 1.000 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 169 0 0 100 21 17.3554 UTP11L 0 genome.wustl.edu 37 1 38484942 38484942 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 38484942 38484942 G A SNP UTP11L ENST00000373014 human ensembl 74_37 +1 known missense c.454 p.A152T 1.000 pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11 pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11 - no_errors UTP11L HGNC ENSG00000183520 253 0 0 162 43 20.9756 UTP11L 0 genome.wustl.edu 37 1 38489303 38489303 + RNA SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 38489303 38489303 T C SNP UTP11L ENST00000488453 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UTP11L HGNC ENSG00000183520 79 0 0 52 14 21.2121 SMAP2 0 genome.wustl.edu 37 1 40872413 40872413 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 40872413 40872413 C T SNP SMAP2 ENST00000372718 human ensembl 74_37 +1 known nonsense c.109 p.R37* 0.997 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 135 0 0 80 26 24.5283 FOXJ3 0 genome.wustl.edu 37 1 42693608 42693608 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 42693608 42693608 C T SNP FOXJ3 ENST00000361346 human ensembl 74_37 -1 known silent c.474 p.P158 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 FOXJ3 HGNC ENSG00000198815 104 0 0 47 15 24.1935 SLC2A1 0 genome.wustl.edu 37 1 43396302 43396302 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 43396302 43396302 C T SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known missense c.511 p.A171T 0.999 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,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 32 0 0 15 5 25 TIE1 0 genome.wustl.edu 37 1 43779013 43779013 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 43779013 43779013 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.2135 p.T712M 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 221 0 0 133 25 15.8228 SLC6A9 0 genome.wustl.edu 37 1 44476464 44476464 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 44476464 44476464 C T SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.340 p.V114M 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 99 0 0 66 19 22.3529 EIF2B3 0 genome.wustl.edu 37 1 45407285 45407285 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 45407285 45407285 T G SNP EIF2B3 ENST00000360403 human ensembl 74_37 -1 known missense c.347 p.E116A 1.000 pfam_NTP_transferase pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 275 0 0 165 42 20.2899 EIF2B3 0 genome.wustl.edu 37 1 45424531 45424531 + RNA SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 45424531 45424531 T C SNP EIF2B3 ENST00000487532 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors EIF2B3 HGNC ENSG00000070785 57 0 0 30 9 23.0769 HECTD3 0 genome.wustl.edu 37 1 45473964 45473964 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 45473964 45473964 T C SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known missense c.1268 p.H423R 1.000 NULL pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 92 0 0 69 8 10.3896 CYP4B1 0 genome.wustl.edu 37 1 47283696 47283696 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 47283696 47283696 C T SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known missense c.1267 p.P423S 0.992 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 244 0 0 140 49 25.9259 PODN 0 genome.wustl.edu 37 1 53547667 53547667 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 53547667 53547667 C T SNP PODN ENST00000312553 human ensembl 74_37 +1 known missense c.1820 p.A607V 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 143 0 0 74 18 19.5652 SLC1A7 0 genome.wustl.edu 37 1 53580635 53580635 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 53580635 53580635 C T SNP SLC1A7 ENST00000371494 human ensembl 74_37 -1 known missense c.226 p.G76R 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 53 0 0 32 7 17.9487 LRP8 0 genome.wustl.edu 37 1 53727864 53727864 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 53727864 53727864 C T SNP LRP8 ENST00000306052 human ensembl 74_37 -1 known missense c.1790 p.R597H 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 172 0 0 95 19 16.6667 TMEM61 0 genome.wustl.edu 37 1 55457572 55457572 + Silent SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 55457572 55457572 G C SNP TMEM61 ENST00000371268 human ensembl 74_37 +1 known silent c.429 p.G143 0.000 NULL NULL - no_errors TMEM61 HGNC ENSG00000143001 205 1 0.485437 118 33 21.8543 BSND 0 genome.wustl.edu 37 1 55472853 55472853 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 55472853 55472853 C T SNP BSND ENST00000371265 human ensembl 74_37 +1 known silent c.456 p.G152 0.000 NULL NULL - no_errors BSND HGNC ENSG00000162399 152 0 0 82 13 13.6842 USP24 0 genome.wustl.edu 37 1 55622979 55622979 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 55622979 55622979 C A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.956 p.R319I 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 51 0 0 31 2 6.06061 NPHP4 0 genome.wustl.edu 37 1 5923298 5923298 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 5923298 5923298 C T SNP NPHP4 ENST00000478423 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NPHP4 HGNC ENSG00000131697 92 0 0 79 11 12.2222 NPHP4 0 genome.wustl.edu 37 1 5933359 5933359 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 5933359 5933359 C T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.3268 p.A1090T 0.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 74 0 0 46 13 22.0339 PGM1 0 genome.wustl.edu 37 1 64059334 64059334 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 64059334 64059334 G A SNP PGM1 ENST00000371084 human ensembl 74_37 +1 known missense c.175 p.V59M 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 19 0 0 10 4 28.5714 SGIP1 0 genome.wustl.edu 37 1 67147821 67147821 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 67147821 67147821 G T SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.1096 p.G366W 0.245 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 504 1 0.19802 290 87 23.0769 LRRC7 0 genome.wustl.edu 37 1 70504040 70504040 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 70504040 70504040 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.2419 p.R807C 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 144 0 0 90 5 5.26316 USP33 0 genome.wustl.edu 37 1 78187594 78187594 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 78187594 78187594 C T SNP USP33 ENST00000357428 human ensembl 74_37 -1 known missense c.1672 p.V558I 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 98 0 0 47 13 21.6667 LPAR3 0 genome.wustl.edu 37 1 85279838 85279838 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 85279838 85279838 G A SNP LPAR3 ENST00000370611 human ensembl 74_37 -1 known silent c.753 p.C251 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 123 1 0.806452 88 20 18.5185 GBP5 0 genome.wustl.edu 37 1 89733134 89733134 + Splice_Site SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 89733134 89733134 T C SNP GBP5 ENST00000490568 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.985 - - - no_errors GBP5 HGNC ENSG00000154451 120 0 0 64 18 21.9512 LRRC8C 0 genome.wustl.edu 37 1 90178423 90178423 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 90178423 90178423 C T SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known silent c.294 p.G98 0.239 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 204 0 0 114 23 16.7883 DNTTIP2 0 genome.wustl.edu 37 1 94343392 94343392 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 94343392 94343392 C T SNP DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known silent c.99 p.A33 0.004 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 55 0 0 32 7 17.9487 CLSTN1 0 genome.wustl.edu 37 1 9795564 9795564 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 9795564 9795564 G A SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.1844 p.T615M 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 215 0 0 132 31 19.0184 DPYD 0 genome.wustl.edu 37 1 98058829 98058829 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 98058829 98058829 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.1073 p.R358H 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 193 0 0 141 30 17.5439 CLSTN1 0 genome.wustl.edu 37 1 9833363 9833363 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 9833363 9833363 C T SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.181 p.A61T 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 71 0 0 45 12 21.0526 NKX2-3 0 genome.wustl.edu 37 10 101294790 101294790 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 101294790 101294790 C T SNP NKX2-3 ENST00000344586 human ensembl 74_37 +1 known missense c.407 p.A136V 0.726 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-3 HGNC ENSG00000119919 20 0 0 8 6 42.8571 COX15 0 genome.wustl.edu 37 10 101486818 101486818 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 101486818 101486818 G A SNP COX15 ENST00000016171 human ensembl 74_37 -1 known silent c.489 p.Y163 1.000 pfam_HemeA_syn pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom - no_errors COX15 HGNC ENSG00000014919 121 1 0.819672 93 6 6.06061 CUTC 0 genome.wustl.edu 37 10 101514332 101514332 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 101514332 101514332 A G SNP CUTC ENST00000370476 human ensembl 74_37 +1 known silent c.648 p.S216 0.150 pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom - no_errors CUTC HGNC ENSG00000119929 524 1 0.190476 293 154 34.4519 ABCC2 0 genome.wustl.edu 37 10 101590172 101590172 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 101590172 101590172 G A SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.2729 p.R910H 0.459 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 201 1 0.49505 151 15 9.03614 ABCC2 0 genome.wustl.edu 37 10 101590491 101590491 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 101590491 101590491 G A SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known silent c.2766 p.R922 0.006 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 147 0 0 119 7 5.55556 CPN1 0 genome.wustl.edu 37 10 101835823 101835823 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 101835823 101835823 C T SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.265 p.E89K 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 134 0 0 80 33 29.2035 MGEA5 0 genome.wustl.edu 37 10 103550863 103550863 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 103550863 103550863 G A SNP MGEA5 ENST00000461645 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MGEA5 HGNC ENSG00000198408 76 0 0 68 25 26.8817 C10orf76 0 genome.wustl.edu 37 10 103799868 103799868 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 103799868 103799868 C T SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.4 p.A2T 1.000 NULL pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 191 0 0 111 47 29.7468 AS3MT 0 genome.wustl.edu 37 10 104632870 104632870 + Missense_Mutation SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 104632870 104632870 A C SNP AS3MT ENST00000369880 human ensembl 74_37 +1 known missense c.338 p.K113T 0.999 pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel - no_errors AS3MT HGNC ENSG00000214435 171 0 0 99 41 29.2857 SH3PXD2A 0 genome.wustl.edu 37 10 105361647 105361647 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 105361647 105361647 A G SNP SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known missense c.3328 p.Y1110H 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 226 0 0 170 45 20.9302 SORCS1 0 genome.wustl.edu 37 10 108923733 108923733 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 108923733 108923733 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.552 p.N184 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 100 0 0 81 23 22.1154 CELF2 0 genome.wustl.edu 37 10 11317065 11317065 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 11317065 11317065 G A SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known missense c.823 p.G275S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 309 0 0 228 40 14.9254 USP6NL 0 genome.wustl.edu 37 10 11505504 11505504 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 11505504 11505504 C T SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known missense c.1492 p.A498T 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 USP6NL HGNC ENSG00000148429 302 0 0 228 45 16.4835 NRAP 0 genome.wustl.edu 37 10 115377303 115377303 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 115377303 115377303 G T SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.2908 p.R970S 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 209 0 0 166 17 9.28962 NRAP 0 genome.wustl.edu 37 10 115383322 115383322 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 115383322 115383322 A G SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.2447 p.L816P 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 155 0 0 125 44 26.0355 VWA2 0 genome.wustl.edu 37 10 116037686 116037686 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 116037686 116037686 C T SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known missense c.580 p.H194Y 0.996 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 35 0 0 24 12 33.3333 FAM160B1 0 genome.wustl.edu 37 10 116593171 116593171 + Nonstop_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 116593171 116593171 T G SNP FAM160B1 ENST00000369246 human ensembl 74_37 +1 known nonstop c.304 p.*102G 0.002 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 287 0 0 179 102 36.2989 PROSER2 0 genome.wustl.edu 37 10 11894126 11894126 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 11894126 11894126 C T SNP PROSER2 ENST00000277570 human ensembl 74_37 +1 known missense c.50 p.T17M 0.001 NULL NULL - no_errors PROSER2 HGNC ENSG00000148426 86 0 0 47 12 20.339 PLEKHA1 0 genome.wustl.edu 37 10 124186520 124186520 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 124186520 124186520 G A SNP PLEKHA1 ENST00000368990 human ensembl 74_37 +1 known silent c.873 p.Q291 1.000 smart_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 99 0 0 61 22 26.506 PLEKHA1 0 genome.wustl.edu 37 10 124189240 124189240 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 124189240 124189240 T C SNP PLEKHA1 ENST00000368990 human ensembl 74_37 +1 known missense c.1001 p.V334A 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 115 0 0 85 20 19.0476 HTRA1 0 genome.wustl.edu 37 10 124249045 124249045 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 124249045 124249045 G A SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.680 p.R227Q 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 134 0 0 93 17 15.4545 CUZD1 0 genome.wustl.edu 37 10 124596473 124596473 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 124596473 124596473 G A SNP CUZD1 ENST00000368904 human ensembl 74_37 -1 known missense c.691 p.R231C 0.481 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC ENSG00000138161 150 1 0.662252 116 19 14.0741 STK32C 0 genome.wustl.edu 37 10 134041580 134041580 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 134041580 134041580 A G SNP STK32C ENST00000368625 human ensembl 74_37 -1 known missense c.410 p.M137T 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 STK32C HGNC ENSG00000165752 124 0 0 66 24 26.6667 CUBN 0 genome.wustl.edu 37 10 16979614 16979614 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 16979614 16979614 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.5903 p.G1968D 0.035 NULL 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 74 0 0 25 10 28.5714 PTPLA 0 genome.wustl.edu 37 10 17636319 17636319 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 17636319 17636319 A G SNP PTPLA ENST00000361271 human ensembl 74_37 -1 known silent c.669 p.A223 0.991 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA - no_errors PTPLA HGNC ENSG00000165996 72 0 0 55 12 17.9104 NEBL 0 genome.wustl.edu 37 10 21147169 21147169 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 21147169 21147169 G A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.903 p.G301 0.963 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 55 0 0 42 24 36.3636 MYO3A 0 genome.wustl.edu 37 10 26359255 26359255 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 26359255 26359255 T C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known silent c.1284 p.V428 0.997 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 146 0 0 80 16 16.6667 SVIL 0 genome.wustl.edu 37 10 29821497 29821497 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 29821497 29821497 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.1799 p.A600V 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 87 0 0 53 11 17.1875 ZNF438 0 genome.wustl.edu 37 10 31134090 31134090 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 31134090 31134090 G T SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.2287 p.P763T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 318 0 0 208 106 33.758 ZNF438 0 genome.wustl.edu 37 10 31139183 31139183 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 31139183 31139183 G A SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known silent c.151 p.L51 0.987 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 265 0 0 193 31 13.8393 RASGEF1A 0 genome.wustl.edu 37 10 43696165 43696165 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 43696165 43696165 C T SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known missense c.631 p.V211M 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 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 RASGEF1A HGNC ENSG00000198915 101 0 0 59 15 20.2703 RASSF4 0 genome.wustl.edu 37 10 45487447 45487447 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 45487447 45487447 T C SNP RASSF4 ENST00000334940 human ensembl 74_37 +1 known missense c.929 p.M310T 0.984 pfscan_SARAH_dom pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF4 HGNC ENSG00000107551 63 0 0 35 16 31.3725 SLC18A3 0 genome.wustl.edu 37 10 50820184 50820184 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 50820184 50820184 G A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known silent c.1398 p.L466 0.953 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 76 0 0 59 16 21.3333 CHAT 0 genome.wustl.edu 37 10 50863204 50863204 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 50863204 50863204 C T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.1698 p.R566 0.547 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 156 0 0 111 22 16.5414 PRKG1 0 genome.wustl.edu 37 10 52913011 52913011 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 52913011 52913011 T C SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known silent c.399 p.C133 1.000 pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 140 1 0.70922 109 6 5.21739 PRKG1 0 genome.wustl.edu 37 10 54042012 54042012 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 54042012 54042012 G T SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known missense c.1645 p.G549C 1.000 pirsf_cGMP-dependent_protein_kinase,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 pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 158 0 0 98 16 14.0351 PCDH15 0 genome.wustl.edu 37 10 55582333 55582333 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 55582333 55582333 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5153 p.P1718L 0.002 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 122 0 0 98 13 11.7117 BICC1 0 genome.wustl.edu 37 10 60549123 60549123 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 60549123 60549123 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.702 p.T234 0.971 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 218 0 0 170 29 14.5729 JMJD1C 0 genome.wustl.edu 37 10 64974663 64974663 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 64974663 64974663 C T SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.1264 p.A422T 0.799 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 199 0 0 107 39 26.7123 PBLD 0 genome.wustl.edu 37 10 70051980 70051980 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 70051980 70051980 G A SNP PBLD ENST00000309049 human ensembl 74_37 -1 known missense c.299 p.T100M 0.032 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 90 0 0 57 36 38.7097 HNRNPH3 0 genome.wustl.edu 37 10 70098402 70098402 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 70098402 70098402 A G SNP HNRNPH3 ENST00000265866 human ensembl 74_37 +1 known missense c.394 p.M132V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH3 HGNC ENSG00000096746 176 1 0.564972 140 34 19.5402 DDX50 0 genome.wustl.edu 37 10 70696705 70696705 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 70696705 70696705 G A SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known missense c.1609 p.V537I 0.997 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 188 1 0.529101 101 52 33.9869 ADAMTS14 0 genome.wustl.edu 37 10 72496472 72496472 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 72496472 72496472 A G SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.1531 p.S511G 1.000 smart_ADAM_Cys-rich pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 84 0 0 77 18 18.9474 DLG5 0 genome.wustl.edu 37 10 79581412 79581412 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 79581412 79581412 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.2830 p.G944S 0.971 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 53 0 0 37 14 27.451 LDB3 0 genome.wustl.edu 37 10 88441340 88441340 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 88441340 88441340 G A SNP LDB3 ENST00000429277 human ensembl 74_37 +1 known missense c.469 p.E157K 0.996 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 81 0 0 59 14 19.1781 GLUD1 0 genome.wustl.edu 37 10 88822563 88822563 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 88822563 88822563 A G SNP GLUD1 ENST00000277865 human ensembl 74_37 -1 known silent c.771 p.G257 0.004 prints_Glu/Leu/Phe/Val_DH pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC ENSG00000148672 66 0 0 46 24 34.2857 CH25H 0 genome.wustl.edu 37 10 90967020 90967020 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 90967020 90967020 C A SNP CH25H ENST00000371852 human ensembl 74_37 -1 known missense c.30 p.Q10H 0.000 NULL pfam_Fatty_acid_hydroxylase - no_errors CH25H HGNC ENSG00000138135 12 0 0 13 8 38.0952 PLCE1 0 genome.wustl.edu 37 10 96014707 96014707 + Nonsense_Mutation SNP T T A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 96014707 96014707 T A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known nonsense c.3455 p.L1152* 1.000 NULL 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 393 0 0 289 72 19.9446 TCTN3 0 genome.wustl.edu 37 10 97446824 97446824 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 97446824 97446824 A G SNP TCTN3 ENST00000371217 human ensembl 74_37 -1 known missense c.829 p.Y277H 1.000 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN3 HGNC ENSG00000119977 106 0 0 93 22 19.1304 RRP12 0 genome.wustl.edu 37 10 99126211 99126211 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 99126211 99126211 C T SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.3383 p.R1128Q 1.000 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 157 0 0 163 49 23.1132 CNTN5 0 genome.wustl.edu 37 11 100126491 100126491 + Splice_Site SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 100126491 100126491 G T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known splice_site c.2006-1 e15-1 1.000 - - - no_errors CNTN5 HGNC ENSG00000149972 154 1 0.645161 93 38 29.0076 KIAA1377 0 genome.wustl.edu 37 11 101833873 101833873 + Nonsense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 101833873 101833873 G T SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known nonsense c.2107 p.G703* 0.000 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 264 0 0 204 12 5.55556 MMP8 0 genome.wustl.edu 37 11 102585436 102585436 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 102585436 102585436 G A SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known silent c.1041 p.N347 0.056 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 196 0 0 97 37 27.6119 MSANTD4 0 genome.wustl.edu 37 11 105881195 105881195 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 105881195 105881195 C T SNP MSANTD4 ENST00000301919 human ensembl 74_37 -1 known silent c.450 p.P150 0.801 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 184 0 0 101 31 23.4848 RAB39A 0 genome.wustl.edu 37 11 107799397 107799397 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 107799397 107799397 G A SNP RAB39A ENST00000320578 human ensembl 74_37 +1 known missense c.103 p.G35R 0.991 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39A HGNC ENSG00000179331 32 0 0 17 17 50 LAYN 0 genome.wustl.edu 37 11 111430909 111430909 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 111430909 111430909 A G SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.875 p.Y292C 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 119 0 0 51 43 45.7447 BACE1 0 genome.wustl.edu 37 11 117186302 117186302 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 117186302 117186302 C T SNP BACE1 ENST00000313005 human ensembl 74_37 -1 known silent c.210 p.K70 1.000 superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase - no_errors BACE1 HGNC ENSG00000186318 45 0 0 23 5 17.8571 NLRX1 0 genome.wustl.edu 37 11 119044614 119044614 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 119044614 119044614 G A SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.656 p.R219H 1.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 101 0 0 70 14 16.6667 CBL 0 genome.wustl.edu 37 11 119169107 119169107 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 119169107 119169107 C A SNP CBL ENST00000264033 human ensembl 74_37 +1 known missense c.2291 p.P764H 0.513 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 111 0 0 63 31 32.9787 OR6X1 0 genome.wustl.edu 37 11 123624522 123624522 + Silent SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 123624522 123624522 A C SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known silent c.705 p.T235 0.256 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 181 0 0 125 24 16.1074 CDON 0 genome.wustl.edu 37 11 125880287 125880287 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 125880287 125880287 C T SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.1501 p.E501K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 63 0 0 36 8 18.1818 MUC5B 0 genome.wustl.edu 37 11 1262817 1262817 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 1262817 1262817 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.4716 p.D1572 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 24 0 0 24 3 11.1111 MUC5B 0 genome.wustl.edu 37 11 1268464 1268464 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 1268464 1268464 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.10363 p.A3455T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 78 0 0 61 13 17.5676 PRDM10 0 genome.wustl.edu 37 11 129785641 129785641 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 129785641 129785641 T C SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.2452 p.M818V 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 230 0 0 192 31 13.9013 OPCML 0 genome.wustl.edu 37 11 132812832 132812832 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 132812832 132812832 G T SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.156 p.S52R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 132 0 0 88 25 22.1239 IGSF9B 0 genome.wustl.edu 37 11 133800877 133800877 + Splice_Site SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 133800877 133800877 A G SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known splice_site c.1519+2 e11+2 1.000 - - - no_errors IGSF9B HGNC ENSG00000080854 30 0 0 14 5 26.3158 MOB2 0 genome.wustl.edu 37 11 1491525 1491525 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 1491525 1491525 G A SNP MOB2 ENST00000329957 human ensembl 74_37 -1 novel silent c.684 p.T228 0.996 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB2 HGNC ENSG00000182208 148 0 0 121 24 16.5517 MOB2 0 genome.wustl.edu 37 11 1501680 1501680 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 1501680 1501680 C A SNP MOB2 ENST00000329957 human ensembl 74_37 -1 novel missense c.308 p.S103I 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB2 HGNC ENSG00000182208 138 0 0 66 34 34 PIK3C2A 0 genome.wustl.edu 37 11 17111327 17111327 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 17111327 17111327 C T SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known silent c.5019 p.E1673 1.000 superfamily_C2_dom,smart_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 314 0 0 196 108 35.5263 MYOD1 0 genome.wustl.edu 37 11 17741370 17741370 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 17741370 17741370 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known missense c.41 p.T14M 0.936 smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 155 0 0 111 17 13.2812 KCNC1 0 genome.wustl.edu 37 11 17793391 17793391 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 17793391 17793391 C T SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known silent c.750 p.G250 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 277 0 0 182 50 21.5517 MRGPRX3 0 genome.wustl.edu 37 11 18158919 18158919 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 18158919 18158919 G A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.170 p.R57H 0.691 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 178 1 0.558659 143 30 17.341 MRGPRX2 0 genome.wustl.edu 37 11 19076991 19076991 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 19076991 19076991 C T SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.959 p.G320D 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 145 0 0 79 38 32.4786 CD81 0 genome.wustl.edu 37 11 2411682 2411682 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 2411682 2411682 G A SNP CD81 ENST00000263645 human ensembl 74_37 +1 known missense c.107 p.R36H 1.000 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD81 HGNC ENSG00000110651 180 0 0 173 26 13.0653 CD81 0 genome.wustl.edu 37 11 2417118 2417118 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 2417118 2417118 G T SNP CD81 ENST00000263645 human ensembl 74_37 +1 known missense c.479 p.S160I 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD81 HGNC ENSG00000110651 57 0 0 47 21 30.8824 TRPM5 0 genome.wustl.edu 37 11 2436251 2436251 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 2436251 2436251 C T SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known silent c.1512 p.T504 0.001 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 58 0 0 22 12 35.2941 OSBPL5 0 genome.wustl.edu 37 11 3140787 3140787 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 3140787 3140787 G A SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known silent c.681 p.S227 0.003 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 140 0 0 126 10 7.35294 FBXO3 0 genome.wustl.edu 37 11 33790478 33790478 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 33790478 33790478 A G SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known missense c.277 p.Y93H 1.000 superfamily_F-box_dom pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 295 0 0 165 81 32.9268 CD44 0 genome.wustl.edu 37 11 35250752 35250752 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 35250752 35250752 G A SNP CD44 ENST00000428726 human ensembl 74_37 +1 known missense c.2101 p.G701R 0.987 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 208 0 0 167 34 16.9154 STIM1 0 genome.wustl.edu 37 11 4104524 4104524 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 4104524 4104524 C T SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known missense c.1270 p.R424W 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 135 0 0 94 36 27.6923 ANO9 0 genome.wustl.edu 37 11 432030 432030 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 432030 432030 G A SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known silent c.375 p.F125 0.016 NULL pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 102 0 0 59 33 35.8696 CHST1 0 genome.wustl.edu 37 11 45672030 45672030 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 45672030 45672030 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known silent c.444 p.T148 0.983 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 112 0 0 81 36 30.7692 PEX16 0 genome.wustl.edu 37 11 45935969 45935969 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 45935969 45935969 G A SNP PEX16 ENST00000241041 human ensembl 74_37 -1 known missense c.592 p.R198W 0.001 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 71 0 0 45 33 42.3077 LRP4-AS1 0 genome.wustl.edu 37 11 46894894 46894894 + RNA SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 46894894 46894894 C A SNP LRP4-AS1 ENST00000502049 human ensembl 74_37 +1 known rna NULL NULL 0.067 - - - no_errors LRP4-AS1 HGNC ENSG00000247675 36 0 0 32 9 21.9512 NDUFS3 0 genome.wustl.edu 37 11 47602246 47602246 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 47602246 47602246 A G SNP NDUFS3 ENST00000534208 human ensembl 74_37 +1 putative silent c.303 p.A101 0.080 NULL NULL - no_errors NDUFS3 HGNC ENSG00000213619 62 0 0 42 9 17.6471 NUP160 0 genome.wustl.edu 37 11 47828658 47828658 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 47828658 47828658 A T SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.2410 p.L804I 0.978 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 84 0 0 63 36 36.3636 OR4X1 0 genome.wustl.edu 37 11 48285771 48285771 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 48285771 48285771 G A SNP OR4X1 ENST00000320048 human ensembl 74_37 +1 known missense c.359 p.R120H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 114 0 0 93 14 13.0841 PTDSS2 0 genome.wustl.edu 37 11 489433 489433 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 489433 489433 G A SNP PTDSS2 ENST00000308020 human ensembl 74_37 +1 known silent c.888 p.T296 0.562 pfam_PSS pfam_PSS - no_errors PTDSS2 HGNC ENSG00000174915 68 0 0 36 22 37.931 OR4C13 0 genome.wustl.edu 37 11 49974702 49974702 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 49974702 49974702 C A SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.728 p.T243K 0.202 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 277 0 0 196 34 14.7826 OR51B4 0 genome.wustl.edu 37 11 5323054 5323054 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 5323054 5323054 G A SNP OR51B4 ENST00000380224 human ensembl 74_37 -1 known silent c.123 p.G41 0.033 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 OR51B4 HGNC ENSG00000183251 160 0 0 91 25 21.5517 TRIM51HP 0 genome.wustl.edu 37 11 55065505 55065505 + RNA SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 55065505 55065505 T C SNP TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.019 - - - no_errors TRIM51HP HGNC ENSG00000166007 41 0 0 28 16 36.3636 OR5AP2 0 genome.wustl.edu 37 11 56409492 56409492 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 56409492 56409492 C T SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.427 p.V143M 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 108 0 0 90 16 15.0943 PRG3 0 genome.wustl.edu 37 11 57147021 57147021 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 57147021 57147021 G A SNP PRG3 ENST00000287143 human ensembl 74_37 -1 known silent c.321 p.C107 0.046 smart_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG3 HGNC ENSG00000156575 221 0 0 153 70 31.3901 RTN4RL2 0 genome.wustl.edu 37 11 57235469 57235469 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 57235469 57235469 G A SNP RTN4RL2 ENST00000335099 human ensembl 74_37 +1 known missense c.419 p.R140H 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 120 0 0 108 13 10.7438 SERPING1 0 genome.wustl.edu 37 11 57373915 57373915 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 57373915 57373915 C A SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known silent c.924 p.T308 0.008 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 239 0 0 169 32 15.9204 OR52E4 0 genome.wustl.edu 37 11 5905736 5905736 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 5905736 5905736 G T SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known missense c.214 p.D72Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 224 1 0.444444 149 37 19.8925 OR52E4 0 genome.wustl.edu 37 11 5906312 5906312 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 5906312 5906312 C T SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known missense c.790 p.R264C 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 258 0 0 179 42 19.0045 OR56A4 0 genome.wustl.edu 37 11 6024037 6024037 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 6024037 6024037 C T SNP OR56A4 ENST00000330728 human ensembl 74_37 -1 known silent c.342 p.L114 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 107 0 0 67 44 39.6396 CCDC86 0 genome.wustl.edu 37 11 60615436 60615436 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 60615436 60615436 G A SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known silent c.798 p.S266 1.000 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 221 0 0 154 77 33.3333 ZP1 0 genome.wustl.edu 37 11 60640952 60640952 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 60640952 60640952 A G SNP ZP1 ENST00000278853 human ensembl 74_37 +1 known missense c.1345 p.N449D 0.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 118 1 0.840336 77 33 30 SLC15A3 0 genome.wustl.edu 37 11 60704755 60704755 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 60704755 60704755 C A SNP SLC15A3 ENST00000227880 human ensembl 74_37 -1 known missense c.1682 p.G561V 0.003 superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A3 HGNC ENSG00000110446 90 0 0 44 22 33.3333 SLC15A3 0 genome.wustl.edu 37 11 60714281 60714281 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 60714281 60714281 C T SNP SLC15A3 ENST00000227880 human ensembl 74_37 -1 known missense c.571 p.G191S 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A3 HGNC ENSG00000110446 171 0 0 96 45 31.9149 DDB1 0 genome.wustl.edu 37 11 61094348 61094348 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 61094348 61094348 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known silent c.567 p.H189 0.183 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 307 0 0 237 49 17.1329 TUT1 0 genome.wustl.edu 37 11 62343367 62343367 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 62343367 62343367 C T SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known silent c.1938 p.P646 0.991 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 212 0 0 170 11 6.07735 TUT1 0 genome.wustl.edu 37 11 62346056 62346056 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 62346056 62346056 G A SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known silent c.1251 p.H417 0.158 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 125 0 0 83 41 33.0645 STIP1 0 genome.wustl.edu 37 11 63960668 63960668 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 63960668 63960668 A G SNP STIP1 ENST00000305218 human ensembl 74_37 +1 known missense c.128 p.N43S 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 133 0 0 135 11 7.53425 NRXN2 0 genome.wustl.edu 37 11 64418979 64418979 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 64418979 64418979 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.2666 p.G889D 1.000 pfam_Laminin_G,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 62 0 0 25 13 34.2105 RIN1 0 genome.wustl.edu 37 11 66102359 66102359 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 66102359 66102359 C T SNP RIN1 ENST00000311320 human ensembl 74_37 -1 known missense c.911 p.S304N 0.051 NULL pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 31 0 0 5 5 50 SLC29A2 0 genome.wustl.edu 37 11 66131829 66131829 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 66131829 66131829 T C SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known missense c.1126 p.M376V 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 81 0 0 52 11 17.4603 PELI3 0 genome.wustl.edu 37 11 66235678 66235678 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 66235678 66235678 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.79 p.V27I 0.000 NULL pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 108 0 0 93 16 14.6789 BBS1 0 genome.wustl.edu 37 11 66290971 66290971 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 66290971 66290971 C A SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known missense c.986 p.P329H 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 129 0 0 85 39 31.4516 BBS1 0 genome.wustl.edu 37 11 66297418 66297418 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 66297418 66297418 G A SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known missense c.1579 p.A527T 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 26 0 0 21 9 30 RBM14 0 genome.wustl.edu 37 11 66392333 66392333 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 66392333 66392333 A G SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.986 p.N329S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 109 0 0 97 8 7.61905 RBM4B 0 genome.wustl.edu 37 11 66436179 66436179 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 66436179 66436179 G A SNP RBM4B ENST00000310046 human ensembl 74_37 -1 known silent c.996 p.S332 0.844 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 97 0 0 68 26 27.6596 RPS6KB2 0 genome.wustl.edu 37 11 67202123 67202123 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 67202123 67202123 G A SNP RPS6KB2 ENST00000312629 human ensembl 74_37 +1 known missense c.1226 p.R409H 0.999 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 RPS6KB2 HGNC ENSG00000175634 28 0 0 17 3 15 CORO1B 0 genome.wustl.edu 37 11 67208620 67208620 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 67208620 67208620 C T SNP CORO1B ENST00000341356 human ensembl 74_37 -1 known silent c.732 p.E244 1.000 superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 264 0 0 140 68 32.6923 LRP5 0 genome.wustl.edu 37 11 68192599 68192599 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 68192599 68192599 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3266 p.R1089Q 0.972 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 104 0 0 83 8 8.79121 OR2D2 0 genome.wustl.edu 37 11 6913404 6913404 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 6913404 6913404 T C SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.328 p.T110A 0.446 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_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 104 0 0 65 29 30.8511 SHANK2 0 genome.wustl.edu 37 11 70332838 70332838 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 70332838 70332838 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3563 p.A1188V 0.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 101 0 0 67 7 9.45946 FOLR3 0 genome.wustl.edu 37 11 71850033 71850033 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 71850033 71850033 C T SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known missense c.323 p.A108V 1.000 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 50 0 0 38 27 41.5385 INPPL1 0 genome.wustl.edu 37 11 71948521 71948521 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 71948521 71948521 G A SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.3233 p.R1078Q 0.989 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 75 0 0 52 20 27.7778 EPS8L2 0 genome.wustl.edu 37 11 724757 724757 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 724757 724757 C T SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known silent c.1488 p.Y496 0.960 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 70 0 0 74 11 12.9412 ARHGEF17 0 genome.wustl.edu 37 11 73020180 73020180 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 73020180 73020180 G T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.497 p.R166L 0.880 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 12 0 0 14 5 26.3158 SYT9 0 genome.wustl.edu 37 11 7324616 7324616 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 7324616 7324616 G A SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known silent c.492 p.S164 0.671 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 29 0 0 32 6 15.7895 KCTD21 0 genome.wustl.edu 37 11 77885584 77885584 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 77885584 77885584 G A SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known missense c.17 p.T6M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 35 0 0 28 11 28.2051 SLC25A22 0 genome.wustl.edu 37 11 792014 792014 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 792014 792014 G A SNP SLC25A22 ENST00000320230 human ensembl 74_37 -1 known silent c.873 p.R291 0.401 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A22 HGNC ENSG00000177542 25 0 0 12 10 45.4545 ANKRD42 0 genome.wustl.edu 37 11 82936061 82936061 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 82936061 82936061 G A SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known missense c.667 p.A223T 0.061 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC ENSG00000137494 166 0 0 102 16 13.5593 FAT3 0 genome.wustl.edu 37 11 92088255 92088255 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 92088255 92088255 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2977 p.R993C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 59 0 0 27 22 44.898 FAT3 0 genome.wustl.edu 37 11 92543082 92543082 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 92543082 92543082 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.9321 p.D3107 0.935 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 103 0 0 88 10 10.2041 FAT3 0 genome.wustl.edu 37 11 92600334 92600334 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 92600334 92600334 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12086 p.P4029L 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 21 0 0 10 7 41.1765 MAML2 0 genome.wustl.edu 37 11 95712232 95712232 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 95712232 95712232 G A SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.3351 p.N1117 0.999 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 140 0 0 80 38 32.2034 MAML2 0 genome.wustl.edu 37 11 95825802 95825802 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 95825802 95825802 G A SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.1393 p.P465S 0.999 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 161 0 0 112 10 8.19672 FICD 0 genome.wustl.edu 37 12 108913233 108913233 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 108913233 108913233 C T SNP FICD ENST00000552695 human ensembl 74_37 +1 known missense c.1358 p.T453M 1.000 NULL pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 58 0 0 24 25 51.0204 CORO1C 0 genome.wustl.edu 37 12 109041214 109041214 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 109041214 109041214 T C SNP CORO1C ENST00000420959 human ensembl 74_37 -1 known missense c.1549 p.K517E 1.000 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1C HGNC ENSG00000110880 303 0 0 179 93 34.1912 CUX2 0 genome.wustl.edu 37 12 111729244 111729244 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 111729244 111729244 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.324 p.A108 0.004 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 164 0 0 109 61 35.8824 CUX2 0 genome.wustl.edu 37 12 111758485 111758485 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 111758485 111758485 A G SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.2672 p.Y891C 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 27 0 0 28 6 17.6471 PTPN11 0 genome.wustl.edu 37 12 112924286 112924286 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 112924286 112924286 C T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.1232 p.T411M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 99 0 0 81 13 13.8298 SDS 0 genome.wustl.edu 37 12 113837436 113837436 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 113837436 113837436 G A SNP SDS ENST00000257549 human ensembl 74_37 -1 known silent c.78 p.S26 0.026 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDS HGNC ENSG00000135094 14 0 0 17 9 34.6154 NOS1 0 genome.wustl.edu 37 12 117655869 117655869 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 117655869 117655869 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.4271 p.S1424N 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 442 0 0 401 41 9.27602 NOS1 0 genome.wustl.edu 37 12 117705943 117705943 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 117705943 117705943 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1846 p.A616T 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 99 0 0 62 13 17.3333 RNF10 0 genome.wustl.edu 37 12 120990439 120990439 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 120990439 120990439 C T SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known silent c.492 p.S164 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 138 0 0 73 31 29.8077 CAMKK2 0 genome.wustl.edu 37 12 121698197 121698197 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 121698197 121698197 C T SNP CAMKK2 ENST00000545538 human ensembl 74_37 -1 putative missense c.82 p.A28T 0.001 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 CAMKK2 HGNC ENSG00000110931 36 0 0 19 5 20.8333 ANAPC5 0 genome.wustl.edu 37 12 121765029 121765029 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 121765029 121765029 A G SNP ANAPC5 ENST00000261819 human ensembl 74_37 -1 known missense c.1310 p.M437T 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 56 0 0 60 4 6.25 KDM2B 0 genome.wustl.edu 37 12 121880054 121880054 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 121880054 121880054 C T SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.3190 p.V1064I 1.000 pfam_F-box_dom pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 44 0 0 33 10 23.2558 CCDC62 0 genome.wustl.edu 37 12 123290732 123290732 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 123290732 123290732 G T SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known missense c.1741 p.G581C 0.064 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 173 0 0 113 61 35.0575 DNAH10 0 genome.wustl.edu 37 12 124305198 124305198 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 124305198 124305198 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.3718 p.A1240T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 120 0 0 110 7 5.98291 BRI3BP 0 genome.wustl.edu 37 12 125497154 125497154 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 125497154 125497154 C T SNP BRI3BP ENST00000341446 human ensembl 74_37 +1 known silent c.288 p.T96 0.026 NULL NULL - no_errors BRI3BP HGNC ENSG00000184992 366 0 0 266 107 28.6863 GPR133 0 genome.wustl.edu 37 12 131593289 131593289 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 131593289 131593289 C T SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known silent c.1908 p.A636 0.608 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 397 1 0.251256 320 86 21.1823 MMP17 0 genome.wustl.edu 37 12 132329951 132329951 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 132329951 132329951 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known silent c.1161 p.A387 0.994 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 60 0 0 25 13 34.2105 EP400 0 genome.wustl.edu 37 12 132547164 132547164 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 132547164 132547164 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.8360 p.T2787M 0.016 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 58 0 0 31 10 24.3902 GOLGA3 0 genome.wustl.edu 37 12 133381582 133381582 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 133381582 133381582 C A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.1317 p.Q439H 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 58 0 0 50 23 31.5068 GOLGA3 0 genome.wustl.edu 37 12 133385003 133385003 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 133385003 133385003 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.652 p.P218S 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 612 0 0 486 103 17.4873 MGST1 0 genome.wustl.edu 37 12 16510630 16510630 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 16510630 16510630 G A SNP MGST1 ENST00000010404 human ensembl 74_37 +1 known missense c.218 p.R73H 0.971 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST1 HGNC ENSG00000008394 64 0 0 52 23 30.6667 ABCC9 0 genome.wustl.edu 37 12 22005061 22005061 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 22005061 22005061 A G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known silent c.2739 p.L913 0.954 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 68 0 0 62 9 12.6761 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 28 0 0 13 8 38.0952 CACNA1C 0 genome.wustl.edu 37 12 2795379 2795379 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 2795379 2795379 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known nonsense c.5941 p.R1981* 0.425 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 184 0 0 122 31 20.2614 FAM60A 0 genome.wustl.edu 37 12 31440620 31440620 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 31440620 31440620 C T SNP FAM60A ENST00000337682 human ensembl 74_37 -1 known missense c.454 p.G152S 0.976 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 99 0 0 64 9 12.3288 METTL20 0 genome.wustl.edu 37 12 31820594 31820594 + Missense_Mutation SNP T T A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 31820594 31820594 T A SNP METTL20 ENST00000538391 human ensembl 74_37 +1 putative missense c.328 p.Y110N 0.010 NULL NULL - no_errors METTL20 HGNC ENSG00000139160 70 0 0 41 30 42.2535 LRRK2 0 genome.wustl.edu 37 12 40697791 40697791 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 40697791 40697791 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3632 p.L1211P 0.970 smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 164 0 0 93 19 16.9643 PRICKLE1 0 genome.wustl.edu 37 12 42860065 42860065 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 42860065 42860065 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.706 p.R236C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 114 0 0 101 13 11.4035 PUS7L 0 genome.wustl.edu 37 12 44148382 44148382 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 44148382 44148382 C T SNP PUS7L ENST00000344862 human ensembl 74_37 -1 known missense c.667 p.D223N 1.000 superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7L HGNC ENSG00000129317 89 0 0 65 6 8.4507 LALBA 0 genome.wustl.edu 37 12 48962351 48962351 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 48962351 48962351 T C SNP LALBA ENST00000301046 human ensembl 74_37 -1 known missense c.317 p.D106G 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Lactalbumin,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Lactalbumin,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LALBA HGNC ENSG00000167531 140 0 0 97 21 17.7966 KMT2D 0 genome.wustl.edu 37 12 49446436 49446436 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 49446436 49446436 A G SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.1169 p.V390A 0.962 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 61 0 0 50 4 7.40741 DHH 0 genome.wustl.edu 37 12 49488122 49488122 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 49488122 49488122 G A SNP DHH ENST00000266991 human ensembl 74_37 -1 known silent c.174 p.G58 0.986 pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog - no_errors DHH HGNC ENSG00000139549 118 0 0 79 19 19.3878 DIP2B 0 genome.wustl.edu 37 12 51086785 51086785 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 51086785 51086785 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.1708 p.G570S 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 140 0 0 98 21 17.6471 KRT7 0 genome.wustl.edu 37 12 52635388 52635388 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 52635388 52635388 C T SNP KRT7 ENST00000331817 human ensembl 74_37 +1 known missense c.826 p.R276W 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC ENSG00000135480 84 0 0 62 25 28.7356 KRT82 0 genome.wustl.edu 37 12 52794311 52794311 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 52794311 52794311 C T SNP KRT82 ENST00000257974 human ensembl 74_37 -1 known silent c.777 p.E259 1.000 pfam_IF pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 105 0 0 69 24 25.8065 KRT6B 0 genome.wustl.edu 37 12 52841159 52841159 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 52841159 52841159 C A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known missense c.1510 p.G504C 0.868 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 49 0 0 29 9 23.6842 KRT74 0 genome.wustl.edu 37 12 52967139 52967139 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 52967139 52967139 C T SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known silent c.423 p.R141 0.999 pfam_IF pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 225 0 0 149 23 13.3721 ESPL1 0 genome.wustl.edu 37 12 53680216 53680216 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 53680216 53680216 G A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.3696 p.L1232 1.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 210 0 0 212 24 10.1695 PFDN5 0 genome.wustl.edu 37 12 53691682 53691682 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 53691682 53691682 G A SNP PFDN5 ENST00000551018 human ensembl 74_37 +1 known missense c.256 p.V86M 1.000 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha - no_errors PFDN5 HGNC ENSG00000123349 194 0 0 126 55 30.3867 MAP3K12 0 genome.wustl.edu 37 12 53876462 53876462 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 53876462 53876462 C A SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known missense c.2026 p.G676W 0.992 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 391 2 0.508906 330 52 13.6126 HOXC13 0 genome.wustl.edu 37 12 54338839 54338839 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 54338839 54338839 C T SNP HOXC13 ENST00000243056 human ensembl 74_37 +1 known silent c.792 p.R264 0.029 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXC13 HGNC ENSG00000123364 254 0 0 158 78 33.0508 NFE2 0 genome.wustl.edu 37 12 54686821 54686821 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 54686821 54686821 G A SNP NFE2 ENST00000312156 human ensembl 74_37 -1 known silent c.459 p.S153 0.966 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 201 0 0 182 39 17.6471 NCKAP1L 0 genome.wustl.edu 37 12 54925553 54925553 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 54925553 54925553 A G SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.2725 p.T909A 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 105 0 0 91 23 20.1754 OR6C65 0 genome.wustl.edu 37 12 55794998 55794998 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 55794998 55794998 C T SNP OR6C65 ENST00000379665 human ensembl 74_37 +1 known missense c.686 p.A229V 0.110 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C65 HGNC ENSG00000205328 312 0 0 217 44 16.8582 OR6C2 0 genome.wustl.edu 37 12 55846033 55846033 + Silent SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 55846033 55846033 G T SNP OR6C2 ENST00000322678 human ensembl 74_37 +1 known silent c.36 p.L12 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 170 0 0 104 19 15.4472 ERBB3 0 genome.wustl.edu 37 12 56477656 56477656 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 56477656 56477656 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known silent c.204 p.T68 0.036 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 269 0 0 170 71 29.4606 ZC3H10 0 genome.wustl.edu 37 12 56515173 56515173 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 56515173 56515173 G A SNP ZC3H10 ENST00000257940 human ensembl 74_37 +1 known missense c.827 p.R276H 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ENSG00000135482 88 0 0 84 15 15.1515 BAZ2A 0 genome.wustl.edu 37 12 56993616 56993616 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 56993616 56993616 C T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.5048 p.R1683Q 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 49 0 0 29 4 12.1212 LRP1 0 genome.wustl.edu 37 12 57571281 57571281 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 57571281 57571281 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.4268 p.R1423H 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 88 0 0 75 19 20.2128 VWF 0 genome.wustl.edu 37 12 6122709 6122709 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 6122709 6122709 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.5558 p.R1853Q 0.491 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 136 0 0 101 16 13.6752 FAM19A2 0 genome.wustl.edu 37 12 62147455 62147455 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 62147455 62147455 G A SNP FAM19A2 ENST00000416284 human ensembl 74_37 -1 known missense c.332 p.P111L 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 155 0 0 77 30 28.0374 CD9 0 genome.wustl.edu 37 12 6342563 6342563 + RNA SNP C C G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 6342563 6342563 C G SNP CD9 ENST00000546073 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CD9 HGNC ENSG00000010278 80 0 0 58 18 23.6842 C12orf56 0 genome.wustl.edu 37 12 64784109 64784109 + Silent SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 64784109 64784109 G T SNP C12orf56 ENST00000333722 human ensembl 74_37 -1 known silent c.237 p.V79 0.050 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 39 0 0 27 12 30.7692 IRAK3 0 genome.wustl.edu 37 12 66605356 66605356 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 66605356 66605356 T C SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known silent c.567 p.Y189 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 134 0 0 105 10 8.69565 NINJ2 0 genome.wustl.edu 37 12 675099 675099 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 675099 675099 C T SNP NINJ2 ENST00000433832 human ensembl 74_37 -1 putative silent c.171 p.L57 0.000 NULL pfam_Ninjurin - no_errors NINJ2 HGNC ENSG00000171840 70 0 0 65 10 13.3333 ACRBP 0 genome.wustl.edu 37 12 6753627 6753627 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 6753627 6753627 G A SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known missense c.620 p.P207L 0.000 pfam_Proacrosin-bd pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 125 0 0 95 6 5.94059 MDM2 0 genome.wustl.edu 37 12 69229704 69229704 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 69229704 69229704 C T SNP MDM2 ENST00000462284 human ensembl 74_37 +1 known silent c.780 p.L260 0.008 superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 145 0 0 133 25 15.8228 RAB3IP 0 genome.wustl.edu 37 12 70194001 70194001 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 70194001 70194001 T G SNP RAB3IP ENST00000550536 human ensembl 74_37 +1 known missense c.949 p.L317V 0.998 NULL pfam_Sec2p - no_errors RAB3IP HGNC ENSG00000127328 92 0 0 65 12 15.5844 CD163L1 0 genome.wustl.edu 37 12 7522128 7522128 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 7522128 7522128 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known silent c.3864 p.G1288 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 236 0 0 147 86 36.9099 E2F7 0 genome.wustl.edu 37 12 77436967 77436967 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 77436967 77436967 C T SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.1001 p.R334H 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 158 0 0 117 15 11.3636 PPFIA2 0 genome.wustl.edu 37 12 81799628 81799628 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 81799628 81799628 C T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.700 p.E234K 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 15 0 0 13 3 18.75 VEZT 0 genome.wustl.edu 37 12 95694231 95694231 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 95694231 95694231 A G SNP VEZT ENST00000436874 human ensembl 74_37 +1 known missense c.2122 p.T708A 0.002 NULL NULL - no_errors VEZT HGNC ENSG00000028203 85 0 0 56 10 15.1515 CCDC38 0 genome.wustl.edu 37 12 96275317 96275317 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 96275317 96275317 G A SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known silent c.936 p.F312 0.006 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 57 0 0 30 26 46.4286 CCDC38 0 genome.wustl.edu 37 12 96300205 96300205 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 96300205 96300205 T C SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known missense c.329 p.H110R 0.081 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 117 0 0 100 12 10.7143 TMPO 0 genome.wustl.edu 37 12 98927863 98927863 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 98927863 98927863 C T SNP TMPO ENST00000266732 human ensembl 74_37 +1 known missense c.1828 p.R610C 0.001 pfam_LAP2alpha pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 92 0 0 61 28 31.4607 TMTC4 0 genome.wustl.edu 37 13 101287385 101287385 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 101287385 101287385 G A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known nonsense c.1267 p.R423* 1.000 NULL pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 52 0 0 24 5 17.2414 ERCC5 0 genome.wustl.edu 37 13 103518646 103518646 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 103518646 103518646 C T SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.2234 p.A745V 0.006 tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 114 0 0 80 15 15.7895 EFNB2 0 genome.wustl.edu 37 13 107164918 107164918 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 107164918 107164918 C A SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known missense c.365 p.W122L 1.000 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 178 0 0 81 26 24.2991 COL4A1 0 genome.wustl.edu 37 13 110838886 110838886 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 110838886 110838886 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.1743 p.L581 0.024 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 93 0 0 60 17 22.0779 ING1 0 genome.wustl.edu 37 13 111371924 111371924 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 111371924 111371924 C T SNP ING1 ENST00000375774 human ensembl 74_37 +1 known missense c.914 p.A305V 0.992 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 30 0 0 27 4 12.9032 ARHGEF7 0 genome.wustl.edu 37 13 111932912 111932912 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 111932912 111932912 C T SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.1676 p.S559L 0.005 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 212 0 0 100 32 24.2424 SOX1 0 genome.wustl.edu 37 13 112722343 112722343 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 112722343 112722343 G A SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.371 p.R124H 1.000 pfam_TF_SOX pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 74 0 0 35 8 18.6047 F7 0 genome.wustl.edu 37 13 113768274 113768274 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 113768274 113768274 C T SNP F7 ENST00000375581 human ensembl 74_37 +1 known missense c.430 p.H144Y 0.004 pirsf_Pept_S1A_FX pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 60 0 0 51 6 10.5263 PSPC1 0 genome.wustl.edu 37 13 20279895 20279895 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 20279895 20279895 A G SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known silent c.1293 p.T431 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 143 0 0 120 10 7.69231 LATS2 0 genome.wustl.edu 37 13 21563291 21563291 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 21563291 21563291 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.628 p.P210S 0.758 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 68 0 0 52 12 18.75 SACS 0 genome.wustl.edu 37 13 23911749 23911749 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 23911749 23911749 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6266 p.S2089L 0.996 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 105 0 0 57 15 20.8333 CENPJ 0 genome.wustl.edu 37 13 25473679 25473679 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 25473679 25473679 C T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.2869 p.A957T 1.000 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 50 0 0 40 9 18.3673 MTMR6 0 genome.wustl.edu 37 13 25828013 25828013 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 25828013 25828013 G A SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.1235 p.P412L 1.000 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 110 0 0 65 15 18.75 USP12 0 genome.wustl.edu 37 13 27664254 27664254 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 27664254 27664254 G A SNP USP12 ENST00000282344 human ensembl 74_37 -1 known silent c.615 p.D205 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP12 HGNC ENSG00000152484 94 0 0 54 12 18.1818 SLC7A1 0 genome.wustl.edu 37 13 30097437 30097437 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 30097437 30097437 C T SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known missense c.1015 p.V339M 1.000 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 SLC7A1 HGNC ENSG00000139514 244 0 0 163 33 16.8367 STARD13 0 genome.wustl.edu 37 13 33704275 33704275 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 33704275 33704275 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.539 p.T180M 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 55 0 0 36 12 25 POSTN 0 genome.wustl.edu 37 13 38148746 38148746 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 38148746 38148746 C T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known silent c.2052 p.V684 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 45 0 0 24 4 14.2857 FNDC3A 0 genome.wustl.edu 37 13 49705409 49705409 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 49705409 49705409 C T SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.389 p.P130L 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 259 0 0 198 34 14.6552 UTP14C 0 genome.wustl.edu 37 13 52605100 52605100 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 52605100 52605100 C T SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known silent c.2160 p.V720 0.989 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 232 0 0 121 41 25.3086 THSD1 0 genome.wustl.edu 37 13 52952361 52952361 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 52952361 52952361 C T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1744 p.A582T 0.022 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 207 0 0 160 41 20.398 THSD1 0 genome.wustl.edu 37 13 52952664 52952664 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 52952664 52952664 C T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1441 p.G481R 0.001 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 131 0 0 79 19 19.3878 PCDH8 0 genome.wustl.edu 37 13 53422421 53422421 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 53422421 53422421 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.151 p.E51K 0.992 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 246 0 0 166 24 12.6316 PCDH17 0 genome.wustl.edu 37 13 58207121 58207121 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 58207121 58207121 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.441 p.P147 0.002 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 49 0 0 28 11 28.2051 PCDH17 0 genome.wustl.edu 37 13 58208648 58208648 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 58208648 58208648 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1968 p.T656 0.884 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 284 0 0 197 49 19.9187 PCDH17 0 genome.wustl.edu 37 13 58209133 58209133 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 58209133 58209133 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2453 p.P818L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 54 0 0 30 4 11.7647 PCDH20 0 genome.wustl.edu 37 13 61987429 61987429 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 61987429 61987429 C T SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.803 p.R268H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 108 0 0 61 22 26.506 PCDH9 0 genome.wustl.edu 37 13 67477738 67477738 + Splice_Site SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 67477738 67477738 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known splice_site c.3037-1 e2-1 1.000 - - - no_errors PCDH9 HGNC ENSG00000184226 79 0 0 31 5 13.8889 PCDH9 0 genome.wustl.edu 37 13 67801412 67801412 + Silent SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 67801412 67801412 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.1161 p.T387 0.573 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 PCDH9 HGNC ENSG00000184226 283 1 0.352113 146 44 23.1579 LMO7 0 genome.wustl.edu 37 13 76432062 76432062 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 76432062 76432062 C T SNP LMO7 ENST00000377534 human ensembl 74_37 +1 known missense c.4823 p.T1608M 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 116 0 0 67 18 21.1765 LMO7 0 genome.wustl.edu 37 13 76432183 76432183 + RNA SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 76432183 76432183 A T SNP LMO7 ENST00000605961 human ensembl 74_37 +1 known rna NULL NULL 0.209 - - - no_errors LMO7 HGNC ENSG00000136153 38 0 0 28 4 12.5 UGGT2 0 genome.wustl.edu 37 13 96601605 96601605 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 96601605 96601605 C T SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known missense c.1439 p.R480H 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 52 0 0 23 11 32.3529 IPO5 0 genome.wustl.edu 37 13 98671871 98671871 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 98671871 98671871 C T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.2927 p.A976V 0.886 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 125 0 0 65 23 26.1364 WARS 0 genome.wustl.edu 37 14 100801237 100801237 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 100801237 100801237 C A SNP WARS ENST00000355338 human ensembl 74_37 -1 known missense c.1391 p.R464L 1.000 tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS HGNC ENSG00000140105 141 0 0 85 14 14.1414 DYNC1H1 0 genome.wustl.edu 37 14 102452687 102452687 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 102452687 102452687 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.2125 p.R709C 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 65 0 0 35 10 22.2222 DYNC1H1 0 genome.wustl.edu 37 14 102466418 102466418 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 102466418 102466418 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.3897 p.K1299 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 94 0 0 61 10 14.0845 TECPR2 0 genome.wustl.edu 37 14 102912234 102912234 + Missense_Mutation SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 102912234 102912234 A C SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.3025 p.T1009P 1.000 pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 164 1 0.606061 109 36 24.8276 AHNAK2 0 genome.wustl.edu 37 14 105409888 105409888 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 105409888 105409888 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11900 p.K3967R 0.973 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 551 0 0 336 71 17.4447 AHNAK2 0 genome.wustl.edu 37 14 105409902 105409902 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 105409902 105409902 C A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.11886 p.T3962 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 510 3 0.584795 320 68 17.5258 AHNAK2 0 genome.wustl.edu 37 14 105409908 105409908 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 105409908 105409908 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.11880 p.D3960 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 488 2 0.408163 308 58 15.847 AHNAK2 0 genome.wustl.edu 37 14 105409965 105409965 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 105409965 105409965 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.11823 p.P3941 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 434 1 0.229885 256 84 24.7059 AHNAK2 0 genome.wustl.edu 37 14 105412039 105412039 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 105412039 105412039 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9749 p.G3250D 0.042 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 353 0 0 242 38 13.5714 OR4K15 0 genome.wustl.edu 37 14 20444458 20444458 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 20444458 20444458 C T SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known missense c.781 p.R261C 0.317 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 OR4K15 HGNC ENSG00000169488 217 0 0 126 15 10.6383 MMP14 0 genome.wustl.edu 37 14 23315098 23315098 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 23315098 23315098 C T SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known silent c.1599 p.G533 0.915 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 50 0 0 27 10 27.027 AP1G2 0 genome.wustl.edu 37 14 24031226 24031226 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 24031226 24031226 G T SNP AP1G2 ENST00000308724 human ensembl 74_37 -1 known missense c.1678 p.L560M 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 38 0 0 26 3 10.3448 JPH4 0 genome.wustl.edu 37 14 24045135 24045135 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 24045135 24045135 G A SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known missense c.910 p.R304C 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 33 0 0 15 8 34.7826 DCAF11 0 genome.wustl.edu 37 14 24589026 24589026 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 24589026 24589026 G A SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.1013 p.R338H 1.000 superfamily_WD40_repeat_dom,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 41 0 0 30 8 21.0526 ADCY4 0 genome.wustl.edu 37 14 24802094 24802094 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 24802094 24802094 C T SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known missense c.260 p.R87H 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 ADCY4 HGNC ENSG00000129467 29 0 0 30 7 18.9189 NFATC4 0 genome.wustl.edu 37 14 24842495 24842495 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 24842495 24842495 C T SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.1667 p.A556V 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 74 0 0 51 5 8.92857 SRP54 0 genome.wustl.edu 37 14 35498275 35498275 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 35498275 35498275 G A SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known missense c.1432 p.A478T 1.000 NULL pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 127 0 0 62 22 26.1905 SSTR1 0 genome.wustl.edu 37 14 38679662 38679662 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 38679662 38679662 C T SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known silent c.1068 p.T356 0.051 prints_Somatstn_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 153 0 0 94 17 15.3153 LRFN5 0 genome.wustl.edu 37 14 42356185 42356185 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 42356185 42356185 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known silent c.357 p.F119 1.000 pfam_Leu-rich_rpt,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 127 1 0.78125 65 18 21.6867 FAM179B 0 genome.wustl.edu 37 14 45542625 45542625 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 45542625 45542625 G A SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.5024 p.R1675Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 136 0 0 95 18 15.9292 SAV1 0 genome.wustl.edu 37 14 51111571 51111571 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 51111571 51111571 G A SNP SAV1 ENST00000324679 human ensembl 74_37 -1 known nonsense c.697 p.R233* 1.000 superfamily_WW_dom pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_SARAH_dom,pfscan_WW_dom - no_errors SAV1 HGNC ENSG00000151748 148 0 0 92 20 17.8571 DDHD1 0 genome.wustl.edu 37 14 53522429 53522429 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 53522429 53522429 G A SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.2194 p.R732C 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 309 0 0 227 42 15.6134 TRMT5 0 genome.wustl.edu 37 14 61446285 61446285 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 61446285 61446285 G A SNP TRMT5 ENST00000261249 human ensembl 74_37 -1 known nonsense c.331 p.R111* 1.000 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 382 0 0 227 53 18.9286 SYNE2 0 genome.wustl.edu 37 14 64520155 64520155 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 64520155 64520155 C A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.9524 p.P3175Q 1.000 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 89 0 0 52 22 29.7297 FUT8 0 genome.wustl.edu 37 14 66209091 66209091 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 66209091 66209091 C T SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known missense c.1691 p.T564M 0.998 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 79 0 0 42 5 10.6383 PLEK2 0 genome.wustl.edu 37 14 67864541 67864541 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 67864541 67864541 G A SNP PLEK2 ENST00000216446 human ensembl 74_37 -1 known silent c.45 p.G15 0.993 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK2 HGNC ENSG00000100558 40 0 0 20 4 16.6667 RDH12 0 genome.wustl.edu 37 14 68191306 68191306 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 68191306 68191306 G A SNP RDH12 ENST00000267502 human ensembl 74_37 +1 known missense c.185 p.R62Q 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH12 HGNC ENSG00000139988 98 0 0 69 30 30.303 DCAF5 0 genome.wustl.edu 37 14 69521511 69521511 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 69521511 69521511 G A SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known missense c.1892 p.S631L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 211 0 0 119 36 23.2258 DPF3 0 genome.wustl.edu 37 14 73140953 73140953 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 73140953 73140953 C T SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known missense c.1031 p.R344H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 27 0 0 19 5 20.8333 DCAF4 0 genome.wustl.edu 37 14 73425386 73425386 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 73425386 73425386 C T SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known missense c.1361 p.S454F 0.992 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 142 0 0 90 24 21.0526 PAPLN 0 genome.wustl.edu 37 14 73732083 73732083 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 73732083 73732083 G A SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.3131 p.R1044H 0.829 pfscan_Ig-like_dom 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 92 0 0 72 18 20 ELMSAN1 0 genome.wustl.edu 37 14 74193655 74193655 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 74193655 74193655 C T SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.2183 p.R728Q 1.000 pfam_ELM2_dom,pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 76 0 0 55 21 27.6316 YLPM1 0 genome.wustl.edu 37 14 75276988 75276988 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 75276988 75276988 G A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.5093 p.R1698H 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 141 0 0 77 17 18.0851 MLH3 0 genome.wustl.edu 37 14 75513336 75513336 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 75513336 75513336 G A SNP MLH3 ENST00000355774 human ensembl 74_37 -1 known missense c.3023 p.P1008L 0.001 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 254 1 0.392157 184 40 17.8571 TMED8 0 genome.wustl.edu 37 14 77809701 77809701 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 77809701 77809701 G A SNP TMED8 ENST00000216468 human ensembl 74_37 -1 known missense c.580 p.R194W 1.000 superfamily_GOLD,pfscan_GOLD superfamily_GOLD,pfscan_GOLD - no_errors TMED8 HGNC ENSG00000100580 62 0 0 35 8 18.6047 SAMD15 0 genome.wustl.edu 37 14 77857438 77857438 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 77857438 77857438 G A SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known missense c.1876 p.G626S 0.997 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 126 0 0 77 21 21.4286 NRXN3 0 genome.wustl.edu 37 14 79746672 79746672 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 79746672 79746672 G A SNP NRXN3 ENST00000428277 human ensembl 74_37 +1 known missense c.38 p.R13H 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 358 0 0 201 53 20.8661 SEL1L 0 genome.wustl.edu 37 14 81943446 81943446 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 81943446 81943446 G A SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known missense c.2255 p.A752V 1.000 NULL pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 159 0 0 82 12 12.766 SERPINA6 0 genome.wustl.edu 37 14 94776089 94776089 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 94776089 94776089 C T SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known missense c.868 p.A290T 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 105 0 0 67 14 17.284 TCL6 0 genome.wustl.edu 37 14 96134571 96134571 + RNA SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 96134571 96134571 C A SNP TCL6 ENST00000352367 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors TCL6 HGNC ENSG00000187621 211 0 0 125 33 20.8861 ASB7 0 genome.wustl.edu 37 15 101152629 101152629 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 101152629 101152629 G A SNP ASB7 ENST00000332783 human ensembl 74_37 +1 known missense c.208 p.G70R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB7 HGNC ENSG00000183475 111 0 0 95 8 7.76699 CYFIP1 0 genome.wustl.edu 37 15 22999391 22999391 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 22999391 22999391 G A SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.3263 p.C1088Y 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 97 0 0 57 26 31.3253 HERC2 0 genome.wustl.edu 37 15 28419593 28419593 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 28419593 28419593 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.10005 p.H3335 0.141 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 51 0 0 34 5 12.8205 HERC2 0 genome.wustl.edu 37 15 28473545 28473545 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 28473545 28473545 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.5283 p.P1761 0.473 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 66 0 0 29 13 30.9524 FAN1 0 genome.wustl.edu 37 15 31206224 31206224 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 31206224 31206224 C T SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known nonsense c.1741 p.R581* 1.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 125 0 0 74 23 23.7113 LPCAT4 0 genome.wustl.edu 37 15 34652368 34652368 + Missense_Mutation SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 34652368 34652368 G C SNP LPCAT4 ENST00000314891 human ensembl 74_37 -1 known missense c.1186 p.L396V 0.736 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 250 0 0 131 38 22.4852 ENSG00000259198 0 genome.wustl.edu 37 15 40605371 40605371 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 40605371 40605371 G A SNP ENSG00000259198 ENST00000559030 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-133K1.6 Clone_based_vega_gene ENSG00000259198 26 0 0 6 4 40 CASC5 0 genome.wustl.edu 37 15 40915554 40915554 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 40915554 40915554 C T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.3170 p.A1057V 0.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 124 0 0 53 9 14.5161 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42132848 42132848 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 42132848 42132848 G T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.902 p.R301M 1.000 pfam_C2_dom,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 130 0 0 71 20 21.978 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42134398 42134398 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 42134398 42134398 C A SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.1322 p.P441H 0.323 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 196 0 0 93 28 23.1405 CAPN3 0 genome.wustl.edu 37 15 42681202 42681202 + Nonsense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 42681202 42681202 G T SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known nonsense c.709 p.E237* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 198 0 0 115 36 23.8411 ZNF106 0 genome.wustl.edu 37 15 42743249 42743249 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 42743249 42743249 C A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.1152 p.L384F 0.005 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 379 1 0.263158 213 67 23.9286 TGM7 0 genome.wustl.edu 37 15 43585663 43585663 + Silent SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 43585663 43585663 G T SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known silent c.177 p.T59 0.205 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 312 0 0 219 60 21.5054 MAP1A 0 genome.wustl.edu 37 15 43816368 43816368 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 43816368 43816368 C A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known silent c.2697 p.S899 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 95 0 0 66 14 17.5 DUOX1 0 genome.wustl.edu 37 15 45454089 45454089 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 45454089 45454089 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.4010 p.R1337Q 1.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 75 0 0 54 11 16.9231 SPATA5L1 0 genome.wustl.edu 37 15 45694912 45694912 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 45694912 45694912 C T SNP SPATA5L1 ENST00000305560 human ensembl 74_37 +1 known silent c.285 p.S95 0.016 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 9 0 0 6 3 33.3333 ATP8B4 0 genome.wustl.edu 37 15 50271884 50271884 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 50271884 50271884 A G SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.964 p.S322P 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP8B4 HGNC ENSG00000104043 247 0 0 137 36 20.8092 MAPK6 0 genome.wustl.edu 37 15 52356399 52356399 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 52356399 52356399 C T SNP MAPK6 ENST00000261845 human ensembl 74_37 +1 known silent c.1368 p.N456 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 49 0 0 32 9 21.9512 RAB27A 0 genome.wustl.edu 37 15 55522599 55522599 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 55522599 55522599 C T SNP RAB27A ENST00000336787 human ensembl 74_37 -1 known missense c.239 p.R80K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27A HGNC ENSG00000069974 191 0 0 117 9 7.14286 HERC1 0 genome.wustl.edu 37 15 63952005 63952005 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 63952005 63952005 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.9354 p.S3118 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 81 0 0 50 14 21.875 CILP 0 genome.wustl.edu 37 15 65499120 65499120 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 65499120 65499120 C T SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.424 p.G142R 1.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 243 0 0 136 41 23.1638 DPP8 0 genome.wustl.edu 37 15 65739248 65739248 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 65739248 65739248 G A SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.2671 p.R891C 0.989 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 264 0 0 162 27 14.2857 TIPIN 0 genome.wustl.edu 37 15 66629397 66629397 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 66629397 66629397 C T SNP TIPIN ENST00000261881 human ensembl 74_37 -1 known missense c.805 p.A269T 0.000 NULL pfam_Swi3 - no_errors TIPIN HGNC ENSG00000075131 230 0 0 140 34 19.5402 SKOR1 0 genome.wustl.edu 37 15 68118543 68118543 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 68118543 68118543 C T SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.377 p.T126M 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 162 0 0 109 24 18.0451 HEXA 0 genome.wustl.edu 37 15 72637826 72637826 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 72637826 72637826 G A SNP HEXA ENST00000268097 human ensembl 74_37 -1 known missense c.1487 p.A496V 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXA HGNC ENSG00000213614 91 0 0 54 15 21.7391 ISLR2 0 genome.wustl.edu 37 15 74425464 74425464 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 74425464 74425464 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.369 p.S123 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 150 0 0 104 17 14.0496 LMAN1L 0 genome.wustl.edu 37 15 75117834 75117834 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 75117834 75117834 G A SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known missense c.1469 p.S490N 0.010 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 460 0 0 313 77 19.7436 CSPG4 0 genome.wustl.edu 37 15 75968944 75968944 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 75968944 75968944 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.5916 p.R1972 0.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 188 0 0 133 12 8.27586 ADAMTS7 0 genome.wustl.edu 37 15 79083119 79083119 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 79083119 79083119 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.921 p.T307 0.084 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 181 0 0 77 29 27.3585 AP3B2 0 genome.wustl.edu 37 15 83334219 83334219 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 83334219 83334219 C T SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.1961 p.R654H 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 160 0 0 90 16 15.0943 KLHL25 0 genome.wustl.edu 37 15 86311780 86311780 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 86311780 86311780 G A SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known missense c.1262 p.A421V 0.999 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,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 KLHL25 HGNC ENSG00000183655 103 0 0 83 8 8.79121 KIF7 0 genome.wustl.edu 37 15 90171797 90171797 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 90171797 90171797 C T SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known silent c.3885 p.Q1295 0.034 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 121 0 0 96 14 12.7273 TXNDC11 0 genome.wustl.edu 37 16 11773386 11773386 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 11773386 11773386 G T SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known missense c.2623 p.Q875K 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 84 0 0 49 19 27.9412 GNPTG 0 genome.wustl.edu 37 16 1411874 1411874 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 1411874 1411874 T C SNP GNPTG ENST00000204679 human ensembl 74_37 +1 known missense c.235 p.Y79H 1.000 pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC ENSG00000090581 106 0 0 43 34 44.1558 TMC7 0 genome.wustl.edu 37 16 19051753 19051753 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 19051753 19051753 G A SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known missense c.1322 p.R441H 0.995 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 113 1 0.877193 74 36 32.7273 GPRC5B 0 genome.wustl.edu 37 16 19883732 19883732 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 19883732 19883732 G A SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.514 p.R172C 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 79 0 0 59 17 22.3684 DNAH3 0 genome.wustl.edu 37 16 21170726 21170726 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 21170726 21170726 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.37 p.A13T 0.002 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 228 0 0 168 39 18.8406 ZP2 0 genome.wustl.edu 37 16 21216851 21216851 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 21216851 21216851 T G SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.583 p.K195Q 0.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 196 0 0 106 61 36.5269 PKD1 0 genome.wustl.edu 37 16 2158560 2158560 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 2158560 2158560 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.6608 p.R2203H 0.000 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat 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 31 0 0 21 12 36.3636 PKD1 0 genome.wustl.edu 37 16 2163281 2163281 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 2163281 2163281 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.2866 p.V956M 0.111 pfam_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat 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 258 0 0 221 30 11.9522 RRN3P1 0 genome.wustl.edu 37 16 21817457 21817457 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 21817457 21817457 G A SNP RRN3P1 ENST00000546471 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors RRN3P1 HGNC ENSG00000248124 15 0 0 9 4 30.7692 EEF2K 0 genome.wustl.edu 37 16 22291646 22291646 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 22291646 22291646 G A SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known missense c.2017 p.E673K 1.000 pfam_Sel1-like,pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 76 0 0 45 21 31.8182 USP31 0 genome.wustl.edu 37 16 23091344 23091344 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 23091344 23091344 C A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.2099 p.R700M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 87 0 0 92 14 13.2075 COG7 0 genome.wustl.edu 37 16 23444982 23444982 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 23444982 23444982 G A SNP COG7 ENST00000307149 human ensembl 74_37 -1 known missense c.694 p.L232F 1.000 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 93 0 0 60 21 25.9259 PALB2 0 genome.wustl.edu 37 16 23637590 23637590 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 23637590 23637590 C T SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known silent c.2715 p.Q905 0.947 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 124 0 0 104 12 10.3448 LCMT1 0 genome.wustl.edu 37 16 25123281 25123281 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 25123281 25123281 T C SNP LCMT1 ENST00000399069 human ensembl 74_37 +1 known missense c.77 p.V26A 1.000 pirsf_Leu_CO_MeTrfase_LCMT1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCMT1 - no_errors LCMT1 HGNC ENSG00000205629 44 0 0 20 8 28.5714 GTF3C1 0 genome.wustl.edu 37 16 27556722 27556722 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 27556722 27556722 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.344 p.R115H 0.183 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 223 0 0 114 67 37.0166 TBC1D10B 0 genome.wustl.edu 37 16 30369641 30369641 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 30369641 30369641 C T SNP TBC1D10B ENST00000409939 human ensembl 74_37 -1 known missense c.2051 p.R684H 0.980 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 9 0 0 3 4 57.1429 RNF40 0 genome.wustl.edu 37 16 30780556 30780556 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 30780556 30780556 A G SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known missense c.2297 p.E766G 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 216 1 0.460829 148 74 33.3333 SETD1A 0 genome.wustl.edu 37 16 30990956 30990956 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 30990956 30990956 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.3849 p.S1283 0.039 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 45 0 0 36 7 16.2791 HSD3B7 0 genome.wustl.edu 37 16 30999231 30999231 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 30999231 30999231 C T SNP HSD3B7 ENST00000297679 human ensembl 74_37 +1 known silent c.837 p.C279 0.386 pfam_3Beta_OHSteriod_DH/Estase pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 412 0 0 314 61 16.2667 ZNF668 0 genome.wustl.edu 37 16 31073185 31073185 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 31073185 31073185 G A SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known missense c.1133 p.A378V 0.989 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 129 0 0 116 54 31.7647 ITGAM 0 genome.wustl.edu 37 16 31336659 31336659 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 31336659 31336659 C A SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known silent c.2442 p.S814 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 78 0 0 59 11 15.7143 ITGAD 0 genome.wustl.edu 37 16 31422507 31422507 + Silent SNP C C G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 31422507 31422507 C G SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known silent c.1467 p.G489 0.858 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 196 0 0 118 71 37.5661 ZNF267 0 genome.wustl.edu 37 16 31926819 31926819 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 31926819 31926819 T C SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.1249 p.F417L 0.882 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 ZNF267 HGNC ENSG00000185947 95 0 0 81 6 6.89655 OR2C1 0 genome.wustl.edu 37 16 3405968 3405968 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 3405968 3405968 C T SNP OR2C1 ENST00000304936 human ensembl 74_37 +1 known nonsense c.28 p.Q10* 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C1 HGNC ENSG00000168158 111 0 0 64 38 37.2549 ZNF174 0 genome.wustl.edu 37 16 3458393 3458393 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 3458393 3458393 C T SNP ZNF174 ENST00000268655 human ensembl 74_37 +1 known missense c.698 p.A233V 0.178 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 171 0 0 144 27 15.7895 NLRC3 0 genome.wustl.edu 37 16 3591813 3591813 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 3591813 3591813 C T SNP NLRC3 ENST00000419350 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NLRC3 HGNC ENSG00000167984 27 0 0 20 6 23.0769 SLX4 0 genome.wustl.edu 37 16 3640516 3640516 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 3640516 3640516 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known silent c.3123 p.Q1041 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 223 1 0.446429 130 68 34.3434 TRAP1 0 genome.wustl.edu 37 16 3736128 3736128 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 3736128 3736128 G A SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.340 p.R114W 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N 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 110 0 0 67 28 29.4737 AXIN1 0 genome.wustl.edu 37 16 396309 396309 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 396309 396309 C T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known silent c.717 p.P239 0.996 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 203 0 0 161 30 15.7068 ADCY9 0 genome.wustl.edu 37 16 4164370 4164370 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 4164370 4164370 G A SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.1074 p.V358 0.746 smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 197 0 0 119 74 38.342 CORO7-PAM16 0 genome.wustl.edu 37 16 4410338 4410338 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 4410338 4410338 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known silent c.2049 p.R683 0.191 NULL pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 96 0 0 56 18 24.3243 DECR2 0 genome.wustl.edu 37 16 461554 461554 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 461554 461554 C T SNP DECR2 ENST00000219481 human ensembl 74_37 +1 known silent c.855 p.F285 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors DECR2 HGNC ENSG00000242612 110 1 0.900901 52 44 45.8333 NOD2 0 genome.wustl.edu 37 16 50744556 50744556 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 50744556 50744556 C T SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.734 p.T245M 0.998 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 85 0 0 49 30 37.9747 FAM86A 0 genome.wustl.edu 37 16 5141894 5141894 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 5141894 5141894 G A SNP FAM86A ENST00000427587 human ensembl 74_37 -1 known silent c.243 p.H81 0.949 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86A HGNC ENSG00000118894 52 0 0 34 12 26.087 CES5A 0 genome.wustl.edu 37 16 55893467 55893467 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 55893467 55893467 G A SNP CES5A ENST00000521992 human ensembl 74_37 -1 known silent c.1135 p.L379 0.464 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 53 0 0 28 16 36.3636 GPR56 0 genome.wustl.edu 37 16 57689865 57689865 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 57689865 57689865 G A SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known silent c.978 p.T326 0.005 prints_GPCR_2_orphan_rcpt_GPR56 pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 239 0 0 189 36 16 ZNF319 0 genome.wustl.edu 37 16 58031166 58031166 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 58031166 58031166 C T SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known missense c.1004 p.R335H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 59 0 0 29 11 27.5 ZNF319 0 genome.wustl.edu 37 16 58031252 58031252 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 58031252 58031252 C T SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known silent c.918 p.P306 0.175 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 59 0 0 32 17 34.6939 DYNC1LI2 0 genome.wustl.edu 37 16 66776563 66776563 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 66776563 66776563 G A SNP DYNC1LI2 ENST00000258198 human ensembl 74_37 -1 known missense c.307 p.R103C 1.000 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI2 HGNC ENSG00000135720 71 0 0 33 20 37.7358 CES2 0 genome.wustl.edu 37 16 66974560 66974560 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 66974560 66974560 C T SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.970 p.P324S 0.036 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 102 0 0 100 13 11.5044 CES4A 0 genome.wustl.edu 37 16 67037211 67037211 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 67037211 67037211 A T SNP CES4A ENST00000326686 human ensembl 74_37 +1 known missense c.848 p.N283I 0.041 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 117 0 0 80 9 10.1124 PLEKHG4 0 genome.wustl.edu 37 16 67320703 67320703 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 67320703 67320703 C T SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.2806 p.R936C 0.651 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 119 0 0 70 16 18.6047 DDX28 0 genome.wustl.edu 37 16 68056553 68056553 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 68056553 68056553 G A SNP DDX28 ENST00000332395 human ensembl 74_37 -1 known missense c.553 p.P185S 0.997 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 76 0 0 69 8 10.3896 DUS2 0 genome.wustl.edu 37 16 68104958 68104958 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 68104958 68104958 C T SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known missense c.757 p.L253F 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 145 0 0 119 15 11.194 SLC7A6 0 genome.wustl.edu 37 16 68321694 68321694 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 68321694 68321694 G A SNP SLC7A6 ENST00000219343 human ensembl 74_37 +1 known missense c.569 p.R190H 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 152 0 0 98 43 30.4965 WFIKKN1 0 genome.wustl.edu 37 16 683373 683373 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 683373 683373 G A SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known silent c.963 p.P321 0.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 22 0 0 13 9 40.9091 DDX19B 0 genome.wustl.edu 37 16 70363861 70363861 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 70363861 70363861 G A SNP DDX19B ENST00000288071 human ensembl 74_37 +1 known missense c.913 p.D305N 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19B HGNC ENSG00000157349 229 0 0 197 45 18.595 CMTR2 0 genome.wustl.edu 37 16 71317774 71317774 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 71317774 71317774 C T SNP CMTR2 ENST00000338099 human ensembl 74_37 -1 known missense c.2050 p.A684T 1.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors CMTR2 HGNC ENSG00000180917 155 0 0 110 19 14.7287 ZNF821 0 genome.wustl.edu 37 16 71894461 71894461 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 71894461 71894461 T C SNP ZNF821 ENST00000425432 human ensembl 74_37 -1 known silent c.699 p.G233 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF821 HGNC ENSG00000102984 187 0 0 106 50 32.0513 ZFHX3 0 genome.wustl.edu 37 16 72822157 72822157 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 72822157 72822157 C A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.10018 p.G3340C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 104 0 0 53 27 33.75 HSDL1 0 genome.wustl.edu 37 16 84163662 84163662 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 84163662 84163662 C T SNP HSDL1 ENST00000219439 human ensembl 74_37 -1 known missense c.595 p.A199T 0.990 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSDL1 HGNC ENSG00000103160 160 1 0.621118 171 9 5 ZFPM1 0 genome.wustl.edu 37 16 88599110 88599110 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 88599110 88599110 G A SNP ZFPM1 ENST00000319555 human ensembl 74_37 +1 known silent c.1035 p.T345 0.175 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 45 0 0 33 6 15.3846 ANKRD11 0 genome.wustl.edu 37 16 89349001 89349001 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 89349001 89349001 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.3949 p.L1317 0.734 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 104 0 0 82 14 14.5833 ANKRD11 0 genome.wustl.edu 37 16 89351106 89351106 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 89351106 89351106 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.1844 p.A615V 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 165 0 0 130 16 10.9589 ANKRD11 0 genome.wustl.edu 37 16 89352509 89352509 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 89352509 89352509 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.830 p.P277L 0.999 superfamily_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 ANKRD11 HGNC ENSG00000167522 365 0 0 215 122 36.2018 SPATA2L 0 genome.wustl.edu 37 16 89763857 89763857 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 89763857 89763857 G A SNP SPATA2L ENST00000289805 human ensembl 74_37 -1 known missense c.1160 p.A387V 0.012 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 46 0 0 30 16 34.7826 VPS9D1 0 genome.wustl.edu 37 16 89777784 89777784 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 89777784 89777784 T C SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.784 p.N262D 1.000 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 34 0 0 17 4 19.0476 TCF25 0 genome.wustl.edu 37 16 89970558 89970558 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 89970558 89970558 C T SNP TCF25 ENST00000263346 human ensembl 74_37 +1 known missense c.1414 p.R472W 1.000 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 30 0 0 6 7 53.8462 TUBB3 0 genome.wustl.edu 37 16 90001975 90001975 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 90001975 90001975 G A SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known silent c.1116 p.T372 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 355 0 0 256 61 19.2429 MYH13 0 genome.wustl.edu 37 17 10248525 10248525 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 10248525 10248525 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.1578 p.I526 0.959 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_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 MYH13 HGNC ENSG00000006788 173 0 0 114 23 16.7883 DNAH9 0 genome.wustl.edu 37 17 11775045 11775045 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 11775045 11775045 A G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.10184 p.K3395R 0.869 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 DNAH9 HGNC ENSG00000007174 287 0 0 134 47 25.9669 MYOCD 0 genome.wustl.edu 37 17 12639605 12639605 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 12639605 12639605 C T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.543 p.D181 0.218 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 314 1 0.31746 206 39 15.9184 SLC43A2 0 genome.wustl.edu 37 17 1520045 1520045 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 1520045 1520045 G A SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known missense c.179 p.T60I 0.819 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 111 0 0 59 17 22.3684 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 152 0 0 100 27 21.2598 PRPF8 0 genome.wustl.edu 37 17 1584919 1584919 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 1584919 1584919 C T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.719 p.R240H 1.000 NULL 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 309 0 0 182 35 16.129 ZSWIM7 0 genome.wustl.edu 37 17 15881245 15881245 + RNA SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 15881245 15881245 A G SNP ZSWIM7 ENST00000399280 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZSWIM7 HGNC ENSG00000214941 21 0 0 17 7 29.1667 NCOR1 0 genome.wustl.edu 37 17 15935741 15935741 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 15935741 15935741 G A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.7192 p.P2398S 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 164 0 0 89 29 24.5763 RAI1 0 genome.wustl.edu 37 17 17698291 17698291 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 17698291 17698291 G T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.2029 p.G677C 0.001 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 114 0 0 67 19 22.093 FBXW10 0 genome.wustl.edu 37 17 18647574 18647574 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 18647574 18647574 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.17 p.S6L 0.031 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 224 0 0 143 53 27.0408 FBXW10 0 genome.wustl.edu 37 17 18653318 18653318 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 18653318 18653318 T C SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.954 p.F318 0.005 superfamily_F-box_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 166 0 0 107 21 16.4062 USP22 0 genome.wustl.edu 37 17 20910276 20910276 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 20910276 20910276 G A SNP USP22 ENST00000261497 human ensembl 74_37 -1 known missense c.1255 p.R419W 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 22 0 0 13 4 23.5294 SMG6 0 genome.wustl.edu 37 17 2203910 2203910 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 2203910 2203910 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.137 p.R46H 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 176 0 0 113 26 18.705 KIAA0100 0 genome.wustl.edu 37 17 26960768 26960768 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 26960768 26960768 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known silent c.3264 p.S1088 0.998 pfam_FMP27_GFWDK_dom pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 52 0 0 26 10 27.7778 SUPT6H 0 genome.wustl.edu 37 17 27013675 27013675 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 27013675 27013675 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known silent c.2568 p.D856 1.000 smart_YqgF/RNaseH-like_dom,pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 163 0 0 122 27 18.1208 FAM222B 0 genome.wustl.edu 37 17 27086113 27086113 + Nonsense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 27086113 27086113 A T SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known nonsense c.864 p.C288* 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 20 0 0 16 9 36 SUZ12 0 genome.wustl.edu 37 17 30310094 30310094 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 30310094 30310094 G A SNP SUZ12 ENST00000322652 human ensembl 74_37 +1 known missense c.994 p.A332T 1.000 NULL pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC ENSG00000178691 185 0 0 119 15 11.194 RHBDL3 0 genome.wustl.edu 37 17 30616026 30616026 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 30616026 30616026 G A SNP RHBDL3 ENST00000269051 human ensembl 74_37 +1 known silent c.510 p.T170 0.070 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_hand_dom - no_errors RHBDL3 HGNC ENSG00000141314 79 0 0 50 15 23.0769 ASIC2 0 genome.wustl.edu 37 17 31618468 31618468 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 31618468 31618468 G A SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known silent c.666 p.C222 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 75 0 0 42 18 30 TMEM132E 0 genome.wustl.edu 37 17 32963111 32963111 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 32963111 32963111 C T SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.1793 p.A598V 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 42 0 0 20 4 16.6667 SLFN5 0 genome.wustl.edu 37 17 33585942 33585942 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 33585942 33585942 T C SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.233 p.V78A 0.002 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 198 0 0 132 30 18.5185 ACACA 0 genome.wustl.edu 37 17 35470033 35470033 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 35470033 35470033 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known nonsense c.6442 p.R2148* 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 86 0 0 43 22 33.8462 GRB7 0 genome.wustl.edu 37 17 37900851 37900851 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 37900851 37900851 G A SNP GRB7 ENST00000445327 human ensembl 74_37 +1 known missense c.916 p.V306M 0.958 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 29 0 0 26 4 13.3333 IKZF3 0 genome.wustl.edu 37 17 37947745 37947745 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 37947745 37947745 T G SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known missense c.516 p.K172N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 245 1 0.406504 150 43 22.2798 KRT31 0 genome.wustl.edu 37 17 39551538 39551538 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 39551538 39551538 C T SNP KRT31 ENST00000251645 human ensembl 74_37 -1 known missense c.835 p.V279I 0.759 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 174 0 0 120 30 20 DNAJC7 0 genome.wustl.edu 37 17 40134291 40134291 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 40134291 40134291 C T SNP DNAJC7 ENST00000457167 human ensembl 74_37 -1 known missense c.1213 p.A405T 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC7 HGNC ENSG00000168259 75 0 0 44 11 20 ZZEF1 0 genome.wustl.edu 37 17 4020386 4020386 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 4020386 4020386 G A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.574 p.R192C 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 228 0 0 138 52 27.3684 AOC3 0 genome.wustl.edu 37 17 41004637 41004637 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 41004637 41004637 G A SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.1277 p.R426H 0.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 117 0 0 70 25 26.3158 TMEM101 0 genome.wustl.edu 37 17 42090431 42090431 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 42090431 42090431 G A SNP TMEM101 ENST00000206380 human ensembl 74_37 -1 known silent c.411 p.S137 1.000 NULL NULL - no_errors TMEM101 HGNC ENSG00000091947 54 0 0 47 8 14.5455 FZD2 0 genome.wustl.edu 37 17 42635524 42635524 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 42635524 42635524 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known silent c.468 p.S156 0.196 superfamily_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 55 0 0 36 8 18.1818 GFAP 0 genome.wustl.edu 37 17 42987609 42987609 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 42987609 42987609 G A SNP GFAP ENST00000435360 human ensembl 74_37 -1 known silent c.1191 p.D397 1.000 NULL pfam_IF - no_errors GFAP HGNC ENSG00000131095 257 0 0 176 35 16.5877 C1QL1 0 genome.wustl.edu 37 17 43044868 43044868 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 43044868 43044868 G A SNP C1QL1 ENST00000253407 human ensembl 74_37 -1 known silent c.549 p.R183 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC ENSG00000131094 82 0 0 40 9 18.3673 PLCD3 0 genome.wustl.edu 37 17 43195441 43195441 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 43195441 43195441 C T SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known missense c.1180 p.V394I 0.289 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 41 0 0 19 5 20.8333 TBX21 0 genome.wustl.edu 37 17 45822678 45822678 + Silent SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 45822678 45822678 T G SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known silent c.1554 p.P518 0.142 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX21 HGNC ENSG00000073861 99 0 0 69 11 13.75 HOXB3 0 genome.wustl.edu 37 17 46629792 46629792 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 46629792 46629792 G A SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.45 p.F15 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 78 0 0 42 11 20.7547 IGF2BP1 0 genome.wustl.edu 37 17 47118830 47118830 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 47118830 47118830 G T SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.909 p.E303D 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 102 0 0 67 16 19.2771 B4GALNT2 0 genome.wustl.edu 37 17 47236551 47236551 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 47236551 47236551 G A SNP B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known silent c.831 p.T277 0.004 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 347 0 0 209 55 20.8333 SPAG7 0 genome.wustl.edu 37 17 4862892 4862892 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 4862892 4862892 C T SNP SPAG7 ENST00000206020 human ensembl 74_37 -1 known missense c.621 p.M207I 1.000 pirsf_Sperm-assoc_antigen_PAG7 pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd - no_errors SPAG7 HGNC ENSG00000091640 174 1 0.571429 124 30 19.4805 SPAG9 0 genome.wustl.edu 37 17 49057256 49057256 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 49057256 49057256 C A SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known missense c.3260 p.R1087M 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 134 0 0 67 15 18.2927 ZFP3 0 genome.wustl.edu 37 17 4995874 4995874 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 4995874 4995874 C T SNP ZFP3 ENST00000318833 human ensembl 74_37 +1 known missense c.1075 p.H359Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP3 HGNC ENSG00000180787 92 0 0 51 5 8.92857 USP6 0 genome.wustl.edu 37 17 5050419 5050419 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 5050419 5050419 C T SNP USP6 ENST00000250066 human ensembl 74_37 +1 known silent c.2361 p.S787 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 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 239 0 0 129 19 12.8378 PCTP 0 genome.wustl.edu 37 17 53851106 53851106 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 53851106 53851106 C T SNP PCTP ENST00000268896 human ensembl 74_37 +1 known nonsense c.361 p.R121* 0.869 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors PCTP HGNC ENSG00000141179 57 0 0 28 16 36.3636 TRIM25 0 genome.wustl.edu 37 17 54972887 54972887 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 54972887 54972887 A G SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known missense c.1259 p.L420S 0.000 NULL 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 271 0 0 174 48 21.6216 AKAP1 0 genome.wustl.edu 37 17 55191844 55191844 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 55191844 55191844 G A SNP AKAP1 ENST00000337714 human ensembl 74_37 +1 known missense c.2128 p.V710M 1.000 pfam_Tudor pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 118 0 0 62 22 26.1905 LPO 0 genome.wustl.edu 37 17 56342193 56342193 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 56342193 56342193 C A SNP LPO ENST00000262290 human ensembl 74_37 +1 known silent c.1377 p.V459 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 90 0 0 55 19 25.6757 RNF43 0 genome.wustl.edu 37 17 56435035 56435035 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 56435035 56435035 C T SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.2102 p.C701Y 0.994 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 342 0 0 236 28 10.6061 RNF43 0 genome.wustl.edu 37 17 56435709 56435709 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 56435709 56435709 A G SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known silent c.1428 p.S476 0.999 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 164 0 0 93 25 21.1864 TRIM37 0 genome.wustl.edu 37 17 57134370 57134370 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 57134370 57134370 A G SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known silent c.1065 p.P355 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 106 0 0 80 19 19.1919 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58092196 58092196 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 58092196 58092196 C T SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 74 0 0 62 18 22.5 USP32 0 genome.wustl.edu 37 17 58288786 58288786 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 58288786 58288786 G A SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.2269 p.P757S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 237 0 0 132 35 20.9581 DCAF7 0 genome.wustl.edu 37 17 61657271 61657271 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 61657271 61657271 C T SNP DCAF7 ENST00000310827 human ensembl 74_37 +1 known silent c.495 p.H165 0.994 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF7 HGNC ENSG00000136485 55 0 0 54 8 12.9032 CSHL1 0 genome.wustl.edu 37 17 61988105 61988105 + Nonsense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 61988105 61988105 C A SNP CSHL1 ENST00000309894 human ensembl 74_37 -1 known nonsense c.190 p.E64* 0.099 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSHL1 HGNC ENSG00000204414 380 2 0.52356 234 61 20.678 POLG2 0 genome.wustl.edu 37 17 62481916 62481916 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 62481916 62481916 G T SNP POLG2 ENST00000539111 human ensembl 74_37 -1 known missense c.1039 p.L347M 0.991 NULL pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC ENSG00000256525 118 0 0 74 15 16.8539 LOC146880 0 genome.wustl.edu 37 17 62758055 62758055 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 62758055 62758055 C T SNP LOC146880 ENST00000400873 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 190 0 0 118 14 10.6061 LRRC37A3 0 genome.wustl.edu 37 17 62856577 62856577 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 62856577 62856577 G A SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known silent c.3687 p.N1229 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 183 0 0 109 32 22.695 BPTF 0 genome.wustl.edu 37 17 65850305 65850305 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 65850305 65850305 T C SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.863 p.V288A 0.982 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 237 0 0 172 49 22.1719 CDC42EP4 0 genome.wustl.edu 37 17 71282556 71282556 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 71282556 71282556 G A SNP CDC42EP4 ENST00000335793 human ensembl 74_37 -1 known silent c.84 p.S28 1.000 pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP4 HGNC ENSG00000179604 67 0 0 43 10 18.8679 PHF23 0 genome.wustl.edu 37 17 7139893 7139893 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 7139893 7139893 C T SNP PHF23 ENST00000320316 human ensembl 74_37 -1 known missense c.353 p.R118H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 262 0 0 186 40 17.6991 PHF23 0 genome.wustl.edu 37 17 7140733 7140733 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 7140733 7140733 A G SNP PHF23 ENST00000320316 human ensembl 74_37 -1 known missense c.130 p.Y44H 0.997 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 283 0 0 147 47 24.2268 GPRC5C 0 genome.wustl.edu 37 17 72436848 72436848 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 72436848 72436848 C A SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.1068 p.S356R 0.996 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 86 0 0 52 16 23.5294 OTOP3 0 genome.wustl.edu 37 17 72937882 72937882 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 72937882 72937882 C T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known silent c.468 p.H156 0.991 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 52 0 0 45 6 11.7647 OTOP3 0 genome.wustl.edu 37 17 72942905 72942905 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 72942905 72942905 G A SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.955 p.V319M 0.173 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 335 0 0 249 64 20.4473 ST6GALNAC1 0 genome.wustl.edu 37 17 74623163 74623163 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 74623163 74623163 G A SNP ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known silent c.1158 p.H386 0.930 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 74 0 0 58 7 10.7692 SENP3 0 genome.wustl.edu 37 17 7466947 7466947 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 7466947 7466947 G A SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known missense c.554 p.R185H 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 26 0 0 13 3 18.75 FXR2 0 genome.wustl.edu 37 17 7496856 7496856 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 7496856 7496856 G A SNP FXR2 ENST00000250113 human ensembl 74_37 -1 known missense c.1195 p.R399W 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 12 0 0 11 2 15.3846 PGS1 0 genome.wustl.edu 37 17 76396831 76396831 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 76396831 76396831 G A SNP PGS1 ENST00000262764 human ensembl 74_37 +1 known missense c.775 p.A259T 0.999 pirsf_PLipase-D_PtdSer-synthase-type pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase - no_errors PGS1 HGNC ENSG00000087157 178 0 0 118 23 16.3121 DNAH2 0 genome.wustl.edu 37 17 7644225 7644225 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 7644225 7644225 C A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.1604 p.P535Q 0.587 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 189 0 0 122 44 26.506 CYTH1 0 genome.wustl.edu 37 17 76696462 76696462 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 76696462 76696462 C T SNP CYTH1 ENST00000361101 human ensembl 74_37 -1 known silent c.501 p.A167 0.046 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH1 HGNC ENSG00000108669 35 0 0 12 6 33.3333 GAA 0 genome.wustl.edu 37 17 78086728 78086728 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 78086728 78086728 G A SNP GAA ENST00000302262 human ensembl 74_37 +1 known missense c.1942 p.G648S 0.999 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 23 0 0 14 4 22.2222 SGSH 0 genome.wustl.edu 37 17 78190916 78190916 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 78190916 78190916 C T SNP SGSH ENST00000326317 human ensembl 74_37 -1 known missense c.164 p.R55H 0.992 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors SGSH HGNC ENSG00000181523 25 0 0 11 3 21.4286 SLC26A11 0 genome.wustl.edu 37 17 78195443 78195443 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 78195443 78195443 G A SNP SLC26A11 ENST00000361193 human ensembl 74_37 +1 known silent c.84 p.A28 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 38 0 0 40 12 23.0769 RNF213 0 genome.wustl.edu 37 17 78293112 78293112 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 78293112 78293112 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.3024 p.Q1008H 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 135 1 0.735294 91 28 23.5294 KCNAB3 0 genome.wustl.edu 37 17 7832579 7832579 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 7832579 7832579 G A SNP KCNAB3 ENST00000303790 human ensembl 74_37 -1 known missense c.175 p.P59S 0.906 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB3 HGNC ENSG00000170049 31 0 0 5 6 54.5455 RNF213 0 genome.wustl.edu 37 17 78337427 78337427 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 78337427 78337427 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.11587 p.A3863T 0.996 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 59 0 0 36 7 16.2791 RPTOR 0 genome.wustl.edu 37 17 78882653 78882653 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 78882653 78882653 T C SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.2444 p.L815P 0.257 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 492 0 0 315 84 21.0526 STRA13 0 genome.wustl.edu 37 17 79977146 79977146 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 79977146 79977146 C T SNP STRA13 ENST00000577379 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors STRA13 HGNC ENSG00000169689 25 0 0 21 5 19.2308 SLC25A35 0 genome.wustl.edu 37 17 8194159 8194159 + Splice_Site SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 8194159 8194159 C T SNP SLC25A35 ENST00000577745 human ensembl 74_37 -1 known splice_site c.729+1 e4+1 1.000 - - - no_errors SLC25A35 HGNC ENSG00000125434 234 0 0 112 39 25.8278 MYH10 0 genome.wustl.edu 37 17 8417117 8417117 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 8417117 8417117 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.2570 p.R857Q 1.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 107 0 0 74 20 21.2766 PIK3R6 0 genome.wustl.edu 37 17 8731436 8731436 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 8731436 8731436 G A SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known missense c.1385 p.A462V 0.626 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 103 0 0 57 30 34.4828 ENSG00000256616 0 genome.wustl.edu 37 18 12076109 12076109 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 12076109 12076109 C T SNP ENSG00000256616 ENST00000591780 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-815J4.6 Clone_based_vega_gene ENSG00000256616 103 0 0 66 15 18.5185 TUBB6 0 genome.wustl.edu 37 18 12308306 12308306 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 12308306 12308306 G A SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known silent c.15 p.V5 0.985 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase 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 16 0 0 15 7 31.8182 MC2R 0 genome.wustl.edu 37 18 13885348 13885348 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 13885348 13885348 G A SNP MC2R ENST00000327606 human ensembl 74_37 -1 known missense c.170 p.A57V 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 99 0 0 67 24 26.3736 USP14 0 genome.wustl.edu 37 18 211247 211247 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 211247 211247 G A SNP USP14 ENST00000261601 human ensembl 74_37 +1 known missense c.1448 p.R483H 1.000 pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 139 0 0 82 20 19.6078 OSBPL1A 0 genome.wustl.edu 37 18 21913010 21913010 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 21913010 21913010 T C SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.521 p.Q174R 0.996 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 153 0 0 109 26 19.2593 ZNF521 0 genome.wustl.edu 37 18 22805411 22805411 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 22805411 22805411 A G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2471 p.L824S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 236 0 0 141 41 22.5275 TAF4B 0 genome.wustl.edu 37 18 23845164 23845164 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 23845164 23845164 C T SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.374 p.P125L 1.000 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 285 0 0 197 44 18.2573 DSC3 0 genome.wustl.edu 37 18 28605830 28605830 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 28605830 28605830 G A SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known missense c.526 p.R176C 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 44 0 0 13 7 35 DSG3 0 genome.wustl.edu 37 18 29036431 29036431 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 29036431 29036431 G A SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.77 p.R26Q 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 93 0 0 54 15 21.7391 FHOD3 0 genome.wustl.edu 37 18 34340718 34340718 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 34340718 34340718 G A SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.4048 p.V1350I 0.400 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 47 0 0 21 12 36.3636 SETBP1 0 genome.wustl.edu 37 18 42530073 42530073 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 42530073 42530073 C A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.768 p.P256 0.877 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 176 1 0.564972 108 32 22.8571 SETBP1 0 genome.wustl.edu 37 18 42643634 42643634 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 42643634 42643634 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known nonsense c.4762 p.R1588* 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 23 0 0 13 7 35 PSTPIP2 0 genome.wustl.edu 37 18 43579446 43579446 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 43579446 43579446 C T SNP PSTPIP2 ENST00000409746 human ensembl 74_37 -1 known missense c.472 p.V158I 1.000 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP2 HGNC ENSG00000152229 199 0 0 120 30 20 SMAD7 0 genome.wustl.edu 37 18 46448038 46448038 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 46448038 46448038 C T SNP SMAD7 ENST00000262158 human ensembl 74_37 -1 known missense c.985 p.G329S 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD7 HGNC ENSG00000101665 53 0 0 37 7 15.9091 EPB41L3 0 genome.wustl.edu 37 18 5410606 5410606 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 5410606 5410606 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2080 p.R694C 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 36 0 0 29 9 23.6842 KIAA1468 0 genome.wustl.edu 37 18 59936122 59936122 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 59936122 59936122 G A SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known missense c.2701 p.V901I 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 25 0 0 12 7 36.8421 DSEL 0 genome.wustl.edu 37 18 65180208 65180208 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 65180208 65180208 A G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known silent c.1668 p.H556 0.368 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 133 0 0 75 24 24.2424 CBLN2 0 genome.wustl.edu 37 18 70209175 70209175 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 70209175 70209175 G A SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.221 p.A74V 0.997 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 40 0 0 18 6 25 NFATC1 0 genome.wustl.edu 37 18 77193701 77193701 + Missense_Mutation SNP C C G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 77193701 77193701 C G SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.1349 p.A450G 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 163 0 0 95 38 28.5714 PQLC1 0 genome.wustl.edu 37 18 77664092 77664092 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 77664092 77664092 C T SNP PQLC1 ENST00000397778 human ensembl 74_37 -1 known missense c.700 p.G234S 0.981 NULL smart_CTNS - no_errors PQLC1 HGNC ENSG00000122490 53 0 0 36 12 25 LDLR 0 genome.wustl.edu 37 19 11224014 11224014 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 11224014 11224014 G A SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.1247 p.R416Q 0.967 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,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 LDLR HGNC ENSG00000130164 66 0 0 60 19 24.0506 EPOR 0 genome.wustl.edu 37 19 11493831 11493831 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 11493831 11493831 C T SNP EPOR ENST00000222139 human ensembl 74_37 -1 known missense c.193 p.E65K 1.000 pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3 pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 94 0 0 52 12 18.75 ZNF878 0 genome.wustl.edu 37 19 12155624 12155624 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 12155624 12155624 G T SNP ZNF878 ENST00000602107 human ensembl 74_37 -1 known missense c.733 p.P245T 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF878 HGNC ENSG00000257446 339 1 0.294118 214 41 16.0784 ZNF442 0 genome.wustl.edu 37 19 12461820 12461820 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 12461820 12461820 C T SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known silent c.579 p.S193 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 241 0 0 171 33 16.1765 DAND5 0 genome.wustl.edu 37 19 13080535 13080535 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 13080535 13080535 T C SNP DAND5 ENST00000317060 human ensembl 74_37 +1 known missense c.61 p.S21P 0.003 pirsf_Cerberus pfam_DAN,pirsf_Cerberus - no_errors DAND5 HGNC ENSG00000179284 315 1 0.316456 204 31 13.1915 DAND5 0 genome.wustl.edu 37 19 13084382 13084382 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 13084382 13084382 C A SNP DAND5 ENST00000317060 human ensembl 74_37 +1 known silent c.504 p.A168 0.001 pfam_DAN,pirsf_Cerberus pfam_DAN,pirsf_Cerberus - no_errors DAND5 HGNC ENSG00000179284 169 0 0 76 25 24.7525 TRMT1 0 genome.wustl.edu 37 19 13220273 13220273 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 13220273 13220273 G A SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known missense c.1319 p.P440L 0.933 pfam_TRM1,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 144 0 0 82 23 21.9048 CACNA1A 0 genome.wustl.edu 37 19 13419248 13419248 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 13419248 13419248 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.1763 p.R588H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 32 0 0 18 4 18.1818 PCSK4 0 genome.wustl.edu 37 19 1483754 1483754 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 1483754 1483754 T C SNP PCSK4 ENST00000300954 human ensembl 74_37 -1 known missense c.1286 p.Y429C 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 19 0 0 19 3 13.6364 CYP4F3 0 genome.wustl.edu 37 19 15770052 15770052 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 15770052 15770052 G A SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.1420 p.A474T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 58 0 0 44 7 13.7255 MBD3 0 genome.wustl.edu 37 19 1581136 1581136 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 1581136 1581136 G A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.632 p.T211M 0.300 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 71 0 0 38 13 25.4902 OR10H1 0 genome.wustl.edu 37 19 15918055 15918055 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 15918055 15918055 T C SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known missense c.793 p.S265G 0.284 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 OR10H1 HGNC ENSG00000186723 150 0 0 91 9 9 SIN3B 0 genome.wustl.edu 37 19 16980447 16980447 + Missense_Mutation SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 16980447 16980447 G C SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.2079 p.Q693H 0.999 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 54 0 0 32 7 17.9487 CPAMD8 0 genome.wustl.edu 37 19 17137400 17137400 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 17137400 17137400 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.194 p.S65L 0.973 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 9 0 0 9 4 30.7692 NR2F6 0 genome.wustl.edu 37 19 17343237 17343237 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 17343237 17343237 G A SNP NR2F6 ENST00000291442 human ensembl 74_37 -1 known missense c.1139 p.T380M 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2F6 HGNC ENSG00000160113 102 0 0 69 20 22.4719 ANO8 0 genome.wustl.edu 37 19 17441686 17441686 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 17441686 17441686 G A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.944 p.T315M 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 264 0 0 167 45 21.2264 UPF1 0 genome.wustl.edu 37 19 18967769 18967769 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 18967769 18967769 C T SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known silent c.1941 p.D647 0.927 pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 148 0 0 84 11 11.5789 TMEM161A 0 genome.wustl.edu 37 19 19245687 19245687 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 19245687 19245687 C T SNP TMEM161A ENST00000162044 human ensembl 74_37 -1 known missense c.13 p.G5R 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161A HGNC ENSG00000064545 20 0 0 9 4 30.7692 CSNK1G2 0 genome.wustl.edu 37 19 1969844 1969844 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 1969844 1969844 C T SNP CSNK1G2 ENST00000255641 human ensembl 74_37 +1 known missense c.73 p.R25W 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G2 HGNC ENSG00000133275 42 0 0 20 8 28.5714 TMPRSS9 0 genome.wustl.edu 37 19 2421894 2421894 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 2421894 2421894 G A SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.2095 p.V699M 0.024 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 191 0 0 130 35 21.2121 SLC39A3 0 genome.wustl.edu 37 19 2733010 2733010 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 2733010 2733010 G A SNP SLC39A3 ENST00000269740 human ensembl 74_37 -1 known silent c.684 p.D228 0.772 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 95 0 0 62 23 27.0588 THOP1 0 genome.wustl.edu 37 19 2813274 2813274 + Nonstop_Mutation SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 2813274 2813274 A C SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known nonstop c.2070 p.*690C 0.899 NULL pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 20 0 0 19 3 13.6364 MIER2 0 genome.wustl.edu 37 19 308804 308804 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 308804 308804 G A SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known missense c.1106 p.T369I 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 60 0 0 41 14 25.4545 ZNF536 0 genome.wustl.edu 37 19 30936135 30936135 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 30936135 30936135 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1666 p.G556R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 217 0 0 137 36 20.8092 ZNF536 0 genome.wustl.edu 37 19 31039610 31039610 + Silent SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 31039610 31039610 G T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.3084 p.A1028 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 118 0 0 53 15 22.0588 ZNF536 0 genome.wustl.edu 37 19 31039805 31039805 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 31039805 31039805 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.3279 p.S1093 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 116 0 0 75 13 14.7727 SLC7A9 0 genome.wustl.edu 37 19 33355638 33355638 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 33355638 33355638 A G SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known silent c.132 p.I44 0.956 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 293 0 0 195 67 25.5725 PEPD 0 genome.wustl.edu 37 19 34002042 34002042 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 34002042 34002042 G A SNP PEPD ENST00000244137 human ensembl 74_37 -1 known missense c.221 p.A74V 0.995 pfam_Aminopep_P_N pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 61 0 0 34 6 15 KCTD15 0 genome.wustl.edu 37 19 34297866 34297866 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 34297866 34297866 T C SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known missense c.341 p.L114P 1.000 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 KCTD15 HGNC ENSG00000153885 159 0 0 96 21 17.9487 DOHH 0 genome.wustl.edu 37 19 3496662 3496662 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 3496662 3496662 A G SNP DOHH ENST00000250937 human ensembl 74_37 -1 known missense c.151 p.S51P 1.000 superfamily_ARM-type_fold pfam_PBS_lyase_HEAT,superfamily_ARM-type_fold,smart_PBS_lyase_HEAT,pfscan_HEAT_type_2 - no_errors DOHH HGNC ENSG00000129932 81 0 0 51 12 19.0476 MFSD12 0 genome.wustl.edu 37 19 3546152 3546152 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 3546152 3546152 G A SNP MFSD12 ENST00000398558 human ensembl 74_37 -1 known silent c.1209 p.F403 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 134 0 0 76 23 23.2323 MFSD12 0 genome.wustl.edu 37 19 3547329 3547329 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 3547329 3547329 G T SNP MFSD12 ENST00000398558 human ensembl 74_37 -1 known missense c.964 p.L322I 0.884 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 146 1 0.680272 95 19 16.6667 TBXA2R 0 genome.wustl.edu 37 19 3595861 3595861 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 3595861 3595861 G A SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.857 p.T286M 0.032 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 21 0 0 19 3 13.6364 CACTIN 0 genome.wustl.edu 37 19 3624077 3624077 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 3624077 3624077 C A SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.47 p.G16V 0.000 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 243 1 0.409836 135 42 23.7288 ZNF790 0 genome.wustl.edu 37 19 37310215 37310215 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 37310215 37310215 C A SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.1031 p.G344V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 163 0 0 70 19 21.3483 TJP3 0 genome.wustl.edu 37 19 3734422 3734422 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 3734422 3734422 C T SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known silent c.1074 p.T358 0.000 NULL pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 49 0 0 34 8 19.0476 ZNF829 0 genome.wustl.edu 37 19 37383204 37383204 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 37383204 37383204 C A SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.732 p.K244N 0.890 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 ZNF829 HGNC ENSG00000185869 46 0 0 29 7 19.4444 TJP3 0 genome.wustl.edu 37 19 3746525 3746525 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 3746525 3746525 C T SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.2152 p.R718C 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 104 0 0 77 27 25.9615 HKR1 0 genome.wustl.edu 37 19 37854119 37854119 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 37854119 37854119 C T SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known silent c.1422 p.C474 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors HKR1 HGNC ENSG00000181666 103 0 0 86 20 18.8679 ZNF607 0 genome.wustl.edu 37 19 38190221 38190221 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 38190221 38190221 G A SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.811 p.H271Y 0.996 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 ZNF607 HGNC ENSG00000198182 119 0 0 54 17 23.9437 SIPA1L3 0 genome.wustl.edu 37 19 38579399 38579399 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 38579399 38579399 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.1573 p.P525S 0.998 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 99 0 0 54 19 26.0274 GGN 0 genome.wustl.edu 37 19 38876201 38876201 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 38876201 38876201 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known silent c.1701 p.S567 0.098 NULL NULL - no_errors GGN HGNC ENSG00000179168 50 0 0 31 8 20.5128 CLC 0 genome.wustl.edu 37 19 40225698 40225698 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 40225698 40225698 C T SNP CLC ENST00000221804 human ensembl 74_37 -1 known missense c.31 p.A11T 0.000 superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors CLC HGNC ENSG00000105205 94 0 0 50 18 26.4706 PSMC4 0 genome.wustl.edu 37 19 40480659 40480659 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 40480659 40480659 C A SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known silent c.597 p.P199 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 89 0 0 46 12 20.6897 SPTBN4 0 genome.wustl.edu 37 19 40978686 40978686 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 40978686 40978686 A G SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.158 p.K53R 1.000 pirsf_Spectrin_bsu,superfamily_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 8 0 0 13 3 18.75 HNRNPUL1 0 genome.wustl.edu 37 19 41778132 41778132 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 41778132 41778132 G T SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.564 p.E188D 0.997 superfamily_ConA-like_lec_gl_sf pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 378 1 0.263852 268 62 18.7879 DMRTC2 0 genome.wustl.edu 37 19 42352907 42352907 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 42352907 42352907 G A SNP DMRTC2 ENST00000601660 human ensembl 74_37 +1 known missense c.532 p.A178T 1.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 299 0 0 199 75 27.3723 ATP1A3 0 genome.wustl.edu 37 19 42482921 42482921 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 42482921 42482921 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.1467 p.N489 0.026 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 150 0 0 106 29 21.4815 ATP1A3 0 genome.wustl.edu 37 19 42492106 42492106 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 42492106 42492106 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.339 p.D113 0.721 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 213 0 0 161 44 21.4634 SHD 0 genome.wustl.edu 37 19 4283236 4283236 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 4283236 4283236 G A SNP SHD ENST00000543264 human ensembl 74_37 +1 known missense c.589 p.A197T 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHD HGNC ENSG00000105251 56 0 0 49 16 24.6154 PSG8 0 genome.wustl.edu 37 19 43259305 43259305 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 43259305 43259305 G A SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known silent c.823 p.L275 0.003 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 PSG8 HGNC ENSG00000124467 347 0 0 228 74 24.5033 DMPK 0 genome.wustl.edu 37 19 46281042 46281042 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 46281042 46281042 G A SNP DMPK ENST00000343373 human ensembl 74_37 -1 known silent c.795 p.Y265 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors DMPK HGNC ENSG00000104936 230 1 0.4329 161 46 22.2222 SYMPK 0 genome.wustl.edu 37 19 46332457 46332457 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 46332457 46332457 T C SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.1756 p.I586V 0.990 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 80 0 0 50 9 15.2542 PPP5C 0 genome.wustl.edu 37 19 46888085 46888085 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 46888085 46888085 C A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known silent c.823 p.R275 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 162 0 0 113 20 15.0376 CCDC8 0 genome.wustl.edu 37 19 46915402 46915402 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 46915402 46915402 G A SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known silent c.666 p.G222 0.000 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 50 0 0 32 9 21.9512 TICAM1 0 genome.wustl.edu 37 19 4816902 4816902 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 4816902 4816902 C T SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known silent c.1488 p.P496 0.005 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 80 0 0 55 17 23.6111 KCNJ14 0 genome.wustl.edu 37 19 48965204 48965204 + Missense_Mutation SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 48965204 48965204 A C SNP KCNJ14 ENST00000342291 human ensembl 74_37 +1 known missense c.223 p.S75R 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 47 0 0 26 12 31.5789 PPP1R15A 0 genome.wustl.edu 37 19 49377689 49377689 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 49377689 49377689 A G SNP PPP1R15A ENST00000200453 human ensembl 74_37 +1 known missense c.1199 p.E400G 0.148 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 255 2 0.77821 162 51 23.9437 NUCB1 0 genome.wustl.edu 37 19 49425616 49425616 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 49425616 49425616 G A SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.1321 p.V441M 0.006 NULL pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 216 1 0.460829 168 11 6.14525 KCNA7 0 genome.wustl.edu 37 19 49573562 49573562 + Missense_Mutation SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 49573562 49573562 G C SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known missense c.1129 p.L377V 0.997 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_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 74 0 0 48 3 5.88235 KCNA7 0 genome.wustl.edu 37 19 49575520 49575520 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 49575520 49575520 T G SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known missense c.323 p.E108A 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 14 0 0 9 6 40 SCAF1 0 genome.wustl.edu 37 19 50148366 50148366 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 50148366 50148366 C T SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.83 p.T28M 0.989 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 77 0 0 47 13 21.6667 AP2A1 0 genome.wustl.edu 37 19 50302683 50302683 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 50302683 50302683 G A SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known silent c.1065 p.T355 0.876 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 22 0 0 15 8 34.7826 SIGLEC16 0 genome.wustl.edu 37 19 50473353 50473353 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 50473353 50473353 G A SNP SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SIGLEC16 HGNC ENSG00000161643 51 0 0 21 10 32.2581 KDM4B 0 genome.wustl.edu 37 19 5047503 5047503 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 5047503 5047503 A G SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.449 p.N150S 1.000 smart_JmjC_dom,pfscan_JmjC_dom 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 79 0 0 50 12 19.3548 POLD1 0 genome.wustl.edu 37 19 50905572 50905572 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 50905572 50905572 G A SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.700 p.A234T 0.771 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 106 0 0 82 6 6.81818 SIGLEC9 0 genome.wustl.edu 37 19 51629113 51629113 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 51629113 51629113 C T SNP SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known silent c.681 p.T227 0.047 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 161 0 0 86 24 21.8182 PTPRS 0 genome.wustl.edu 37 19 5238970 5238970 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 5238970 5238970 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.1812 p.G604 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 93 0 0 71 21 22.8261 LOC101928571 0 genome.wustl.edu 37 19 52403509 52403509 + RNA SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 52403509 52403509 T C SNP LOC101928571 ENST00000600329 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTC-429C10.2 Clone_based_vega_gene ENSG00000268095 32 0 0 13 7 35 ZNF432 0 genome.wustl.edu 37 19 52538109 52538109 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 52538109 52538109 G A SNP ZNF432 ENST00000221315 human ensembl 74_37 -1 known missense c.823 p.R275C 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 ZNF432 HGNC ENSG00000256087 186 1 0.534759 109 32 22.695 NLRP12 0 genome.wustl.edu 37 19 54314259 54314259 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 54314259 54314259 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known silent c.654 p.A218 0.633 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 139 1 0.714286 83 27 24.5455 EPS8L1 0 genome.wustl.edu 37 19 55593853 55593853 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 55593853 55593853 C T SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known missense c.1097 p.A366V 0.655 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 29 0 0 17 6 26.087 ZNF628 0 genome.wustl.edu 37 19 55995118 55995118 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 55995118 55995118 C T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.2558 p.T853M 0.872 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 92 0 0 57 16 21.9178 NLRP4 0 genome.wustl.edu 37 19 56379209 56379209 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 56379209 56379209 T C SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.2321 p.L774P 0.005 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 146 0 0 83 25 23.1481 NLRP8 0 genome.wustl.edu 37 19 56467052 56467052 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 56467052 56467052 C T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1628 p.A543V 0.001 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 NLRP8 HGNC ENSG00000179709 197 0 0 124 50 28.7356 ZFP28 0 genome.wustl.edu 37 19 57065621 57065621 + Silent SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 57065621 57065621 A T SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known silent c.1467 p.T489 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 169 0 0 86 19 18.0952 LONP1 0 genome.wustl.edu 37 19 5711821 5711821 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 5711821 5711821 G A SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known silent c.831 p.N277 0.440 pfam_Pept_S16_N,smart_Pept_S16_N,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 187 1 0.531915 127 37 22.561 ZNF71 0 genome.wustl.edu 37 19 57133351 57133351 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 57133351 57133351 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.696 p.H232 0.031 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 93 0 0 57 18 24 ZNF835 0 genome.wustl.edu 37 19 57176021 57176021 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 57176021 57176021 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.546 p.A182 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 20 0 0 15 4 21.0526 AURKC 0 genome.wustl.edu 37 19 57746748 57746748 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 57746748 57746748 G A SNP AURKC ENST00000302804 human ensembl 74_37 +1 known missense c.893 p.R298Q 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKC HGNC ENSG00000105146 185 0 0 118 28 19.1781 DUS3L 0 genome.wustl.edu 37 19 5786792 5786792 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 5786792 5786792 C A SNP DUS3L ENST00000309061 human ensembl 74_37 -1 known missense c.1454 p.C485F 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 38 0 0 30 8 21.0526 ZNF772 0 genome.wustl.edu 37 19 57987127 57987127 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 57987127 57987127 C T SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known missense c.100 p.V34M 0.581 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 ZNF772 HGNC ENSG00000197128 159 0 0 72 14 16.2791 ZNF134 0 genome.wustl.edu 37 19 58131878 58131878 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 58131878 58131878 C T SNP ZNF134 ENST00000396161 human ensembl 74_37 +1 known missense c.391 p.P131S 0.013 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 78 0 0 47 13 21.6667 ZNF154 0 genome.wustl.edu 37 19 58213887 58213887 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 58213887 58213887 C T SNP ZNF154 ENST00000426889 human ensembl 74_37 -1 known missense c.430 p.G144S 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 ZNF154 HGNC ENSG00000179909 563 0 0 363 99 21.4286 ZNF552 0 genome.wustl.edu 37 19 58320008 58320008 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 58320008 58320008 T C SNP ZNF552 ENST00000391701 human ensembl 74_37 -1 known silent c.624 p.G208 0.018 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 ZNF552 HGNC ENSG00000178935 175 0 0 100 31 23.6641 ZBTB45 0 genome.wustl.edu 37 19 59025430 59025430 + Silent SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 59025430 59025430 A C SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known silent c.1527 p.P509 0.896 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 ZBTB45 HGNC ENSG00000119574 21 0 0 10 3 23.0769 RFX2 0 genome.wustl.edu 37 19 6002844 6002844 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 6002844 6002844 C T SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1538 p.R513H 0.961 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 38 0 0 26 4 13.3333 RFX2 0 genome.wustl.edu 37 19 6040186 6040186 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 6040186 6040186 G A SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known silent c.327 p.F109 0.996 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 210 0 0 126 37 22.6994 VAV1 0 genome.wustl.edu 37 19 6825086 6825086 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 6825086 6825086 G A SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.677 p.R226Q 0.988 pfam_DH-domain,superfamily_DH-domain,superfamily_CH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 274 0 0 191 47 19.7479 EMR1 0 genome.wustl.edu 37 19 6924823 6924823 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 6924823 6924823 C T SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known silent c.1926 p.C642 0.956 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 128 0 0 97 13 11.8182 EMR1 0 genome.wustl.edu 37 19 6935074 6935074 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 6935074 6935074 C T SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.2366 p.T789M 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 180 1 0.552486 122 29 19.2053 EMR1 0 genome.wustl.edu 37 19 6937643 6937643 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 6937643 6937643 C A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.2639 p.P880Q 0.001 prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 183 0 0 108 28 20.5882 PALM 0 genome.wustl.edu 37 19 726187 726187 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 726187 726187 G A SNP PALM ENST00000338448 human ensembl 74_37 +1 known missense c.55 p.A19T 0.997 NULL pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 114 0 0 78 17 17.8947 PALM 0 genome.wustl.edu 37 19 746564 746564 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 746564 746564 A G SNP PALM ENST00000338448 human ensembl 74_37 +1 known missense c.914 p.Y305C 1.000 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 76 0 0 62 4 6.06061 PNPLA6 0 genome.wustl.edu 37 19 7625616 7625616 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 7625616 7625616 G A SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.3812 p.R1271Q 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 36 0 0 34 10 22.7273 CD209 0 genome.wustl.edu 37 19 7812255 7812255 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 7812255 7812255 A G SNP CD209 ENST00000601951 human ensembl 74_37 -1 known missense c.43 p.S15P 0.005 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CD209 HGNC ENSG00000090659 673 0 0 493 83 14.4097 MAP2K7 0 genome.wustl.edu 37 19 7975347 7975347 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 7975347 7975347 C T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.583 p.R195C 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 28 0 0 11 5 31.25 ANGPTL4 0 genome.wustl.edu 37 19 8431200 8431200 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 8431200 8431200 C T SNP ANGPTL4 ENST00000301455 human ensembl 74_37 +1 known missense c.544 p.H182Y 0.360 superfamily_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL4 HGNC ENSG00000167772 71 0 0 44 12 21.4286 MUC16 0 genome.wustl.edu 37 19 9067398 9067398 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 9067398 9067398 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.20048 p.T6683I 0.007 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 300 0 0 212 63 22.9091 MUC16 0 genome.wustl.edu 37 19 9068980 9068980 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 9068980 9068980 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18466 p.A6156T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 100 0 0 59 19 24.359 ZNF317 0 genome.wustl.edu 37 19 9271917 9271917 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 9271917 9271917 C T SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known silent c.1596 p.C532 0.062 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 ZNF317 HGNC ENSG00000130803 96 0 0 54 16 22.8571 ZNF426 0 genome.wustl.edu 37 19 9640164 9640164 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 9640164 9640164 A G SNP ZNF426 ENST00000253115 human ensembl 74_37 -1 known missense c.557 p.L186P 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 148 0 0 90 28 23.7288 IL1RL2 0 genome.wustl.edu 37 2 102805670 102805670 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 102805670 102805670 G A SNP IL1RL2 ENST00000264257 human ensembl 74_37 +1 known missense c.193 p.V65M 0.000 smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 95 0 0 57 23 28.75 NCK2 0 genome.wustl.edu 37 2 106497989 106497989 + Missense_Mutation SNP C C G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 106497989 106497989 C G SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.432 p.C144W 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 122 0 0 79 15 15.9574 ST6GAL2 0 genome.wustl.edu 37 2 107446579 107446579 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 107446579 107446579 T C SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.1261 p.I421V 1.000 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 206 0 0 108 26 19.403 RANBP2 0 genome.wustl.edu 37 2 109371714 109371714 + Missense_Mutation SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 109371714 109371714 A C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2465 p.K822T 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 215 0 0 174 10 5.43478 EDAR 0 genome.wustl.edu 37 2 109524475 109524475 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 109524475 109524475 G A SNP EDAR ENST00000376651 human ensembl 74_37 -1 known silent c.900 p.S300 0.818 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 37 0 0 31 13 29.5455 PSD4 0 genome.wustl.edu 37 2 113950132 113950132 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 113950132 113950132 C T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.1804 p.R602W 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,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 139 0 0 79 22 21.7822 GREB1 0 genome.wustl.edu 37 2 11736258 11736258 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 11736258 11736258 T C SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.1847 p.L616P 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 220 0 0 130 34 20.7317 DDX18 0 genome.wustl.edu 37 2 118583858 118583858 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 118583858 118583858 G A SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.1535 p.R512H 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 62 0 0 33 9 21.4286 STEAP3 0 genome.wustl.edu 37 2 120005432 120005432 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 120005432 120005432 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.700 p.V234I 0.008 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 154 0 0 88 18 16.9811 INHBB 0 genome.wustl.edu 37 2 121107175 121107175 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 121107175 121107175 T C SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.949 p.W317R 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 144 0 0 103 31 23.1343 GLI2 0 genome.wustl.edu 37 2 121744020 121744020 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 121744020 121744020 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.2123 p.A708V 0.986 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 67 0 0 41 9 18 SAP130 0 genome.wustl.edu 37 2 128700069 128700069 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 128700069 128700069 G A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known nonsense c.3022 p.Q1008* 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 128 1 0.775194 102 20 16.3934 UGGT1 0 genome.wustl.edu 37 2 128865513 128865513 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 128865513 128865513 T C SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known silent c.279 p.G93 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 283 0 0 159 36 18.4615 POTEJ 0 genome.wustl.edu 37 2 131414424 131414424 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 131414424 131414424 C T SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel silent c.2091 p.I697 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 POTEJ HGNC ENSG00000222038 187 0 0 108 49 31.2102 NCKAP5 0 genome.wustl.edu 37 2 133543248 133543248 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 133543248 133543248 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.1136 p.S379L 0.996 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 53 0 0 27 8 22.8571 MGAT5 0 genome.wustl.edu 37 2 135102526 135102526 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 135102526 135102526 C T SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known nonsense c.1003 p.R335* 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 193 0 0 106 21 16.5354 LCT 0 genome.wustl.edu 37 2 136561685 136561685 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 136561685 136561685 T C SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.4478 p.H1493R 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 65 0 0 54 7 11.4754 LCT 0 genome.wustl.edu 37 2 136566693 136566693 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 136566693 136566693 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.3224 p.G1075D 0.998 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 79 0 0 51 10 16.3934 RND3 0 genome.wustl.edu 37 2 151326739 151326739 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 151326739 151326739 G A SNP RND3 ENST00000263895 human ensembl 74_37 -1 known missense c.497 p.A166V 1.000 pfam_Small_GTPase,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 RND3 HGNC ENSG00000115963 116 0 0 68 21 23.5955 NEB 0 genome.wustl.edu 37 2 152500546 152500546 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 152500546 152500546 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.7742 p.A2581V 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 699 0 0 413 103 19.9612 RBMS1 0 genome.wustl.edu 37 2 161223832 161223832 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 161223832 161223832 C T SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known missense c.146 p.S49N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 125 0 0 79 24 23.301 TTC21B 0 genome.wustl.edu 37 2 166747406 166747406 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 166747406 166747406 G A SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.3043 p.R1015C 0.982 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 97 0 0 43 11 20.3704 NOSTRIN 0 genome.wustl.edu 37 2 169718513 169718513 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 169718513 169718513 G A SNP NOSTRIN ENST00000444448 human ensembl 74_37 +1 known silent c.1509 p.L503 0.949 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 180 0 0 108 37 25.5172 LRP2 0 genome.wustl.edu 37 2 170099926 170099926 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 170099926 170099926 A G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.3537 p.D1179 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,prints_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 183 0 0 93 23 19.8276 SP5 0 genome.wustl.edu 37 2 171572828 171572828 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 171572828 171572828 C T SNP SP5 ENST00000375281 human ensembl 74_37 +1 known silent c.111 p.A37 0.881 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP5 HGNC ENSG00000204335 54 0 0 44 11 20 TTN 0 genome.wustl.edu 37 2 179397575 179397575 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 179397575 179397575 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.96063 p.Q32021H 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 87 0 0 77 19 19.7917 TTN 0 genome.wustl.edu 37 2 179416834 179416834 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 179416834 179416834 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83089 p.R27697W 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 256 0 0 146 31 17.5141 TTN 0 genome.wustl.edu 37 2 179422586 179422586 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 179422586 179422586 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.79791 p.D26597 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 515 0 0 296 86 22.5131 ENSG00000270574 0 genome.wustl.edu 37 2 179444123 179444123 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 179444123 179444123 G A SNP ENSG00000270574 ENST00000603521 human ensembl 74_37 +1 known rna NULL NULL 0.071 - - - no_errors RP11-171I2.2 Clone_based_vega_gene ENSG00000270574 75 0 0 39 10 20.4082 TTN 0 genome.wustl.edu 37 2 179444665 179444665 + Splice_Site SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 179444665 179444665 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known splice_site c.59644+1 e266+1 1.000 - - - no_errors TTN HGNC ENSG00000155657 165 0 0 94 19 16.8142 TTN 0 genome.wustl.edu 37 2 179605782 179605782 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 179605782 179605782 G T SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11665 p.P3889T 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 356 1 0.280112 234 57 19.5876 TTN 0 genome.wustl.edu 37 2 179666960 179666960 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 179666960 179666960 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.200 p.I67N 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 150 0 0 103 8 7.20721 ITGAV 0 genome.wustl.edu 37 2 187541976 187541976 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 187541976 187541976 A G SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.3104 p.Q1035R 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 85 0 0 35 10 22.2222 DNAH7 0 genome.wustl.edu 37 2 196722261 196722261 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 196722261 196722261 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.8254 p.L2752F 1.000 superfamily_Signal_recog_particle_SRP9/14 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 167 0 0 88 25 22.1239 SATB2 0 genome.wustl.edu 37 2 200246470 200246470 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 200246470 200246470 G A SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known silent c.420 p.A140 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 141 0 0 71 15 17.4419 RAPH1 0 genome.wustl.edu 37 2 204304285 204304285 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 204304285 204304285 G A SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known silent c.3784 p.L1262 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 89 0 0 44 6 12 ABCA12 0 genome.wustl.edu 37 2 215809820 215809820 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 215809820 215809820 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.7248 p.P2416 0.388 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 ABCA12 HGNC ENSG00000144452 69 0 0 22 5 18.5185 ABCA12 0 genome.wustl.edu 37 2 215843717 215843717 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 215843717 215843717 T C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.4788 p.T1596 0.044 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 96 0 0 56 10 15.1515 SMARCAL1 0 genome.wustl.edu 37 2 217280167 217280167 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 217280167 217280167 G A SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.740 p.R247H 0.560 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 219 0 0 121 31 20.3947 SLC11A1 0 genome.wustl.edu 37 2 219259385 219259385 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 219259385 219259385 G A SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known missense c.1419 p.M473I 0.990 NULL pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 182 0 0 123 18 12.766 STK36 0 genome.wustl.edu 37 2 219562280 219562280 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 219562280 219562280 G A SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.2856 p.M952I 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_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 120 0 0 87 22 20.1835 WNT6 0 genome.wustl.edu 37 2 219736229 219736229 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 219736229 219736229 G A SNP WNT6 ENST00000233948 human ensembl 74_37 +1 known silent c.324 p.V108 0.996 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt6 - no_errors WNT6 HGNC ENSG00000115596 58 0 0 40 10 20 WNT10A 0 genome.wustl.edu 37 2 219745808 219745808 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 219745808 219745808 C T SNP WNT10A ENST00000258411 human ensembl 74_37 +1 known silent c.91 p.L31 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC ENSG00000135925 19 0 0 8 6 42.8571 WNT10A 0 genome.wustl.edu 37 2 219754704 219754704 + Splice_Site SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 219754704 219754704 A G SNP WNT10A ENST00000258411 human ensembl 74_37 +1 known splice_site c.377-2 e3-2 1.000 - - - no_errors WNT10A HGNC ENSG00000135925 184 0 0 99 29 22.6562 ASIC4 0 genome.wustl.edu 37 2 220396848 220396848 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 220396848 220396848 C T SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known missense c.1234 p.R412W 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 147 1 0.675676 98 25 20.3252 OBSL1 0 genome.wustl.edu 37 2 220424192 220424192 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 220424192 220424192 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2981 p.R994H 0.828 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 187 0 0 107 23 17.6923 INHA 0 genome.wustl.edu 37 2 220439886 220439886 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 220439886 220439886 C T SNP INHA ENST00000243786 human ensembl 74_37 +1 known missense c.739 p.R247C 0.723 pirsf_Inhibin_asu_subgr,prints_Inhibin_asu pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 101 0 0 69 16 18.8235 SLC4A3 0 genome.wustl.edu 37 2 220500084 220500084 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 220500084 220500084 C T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.1919 p.P640L 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 87 0 0 51 15 22.7273 GPR55 0 genome.wustl.edu 37 2 231775249 231775249 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 231775249 231775249 G A SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known silent c.429 p.C143 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 129 0 0 90 26 22.4138 ALPPL2 0 genome.wustl.edu 37 2 233274566 233274566 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 233274566 233274566 C T SNP ALPPL2 ENST00000295453 human ensembl 74_37 +1 known missense c.1583 p.T528M 0.000 NULL pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 17 0 0 10 3 23.0769 ECEL1 0 genome.wustl.edu 37 2 233349233 233349233 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 233349233 233349233 G A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1133 p.A378V 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 304 0 0 196 56 22.2222 UGT1A8 0 genome.wustl.edu 37 2 234668982 234668982 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 234668982 234668982 C T SNP UGT1A8 ENST00000305208 human ensembl 74_37 +1 known silent c.49 p.L17 1.000 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A8 HGNC ENSG00000242366 63 0 0 36 9 20 COL6A3 0 genome.wustl.edu 37 2 238289604 238289604 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 238289604 238289604 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.1851 p.L617 0.998 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 73 0 0 49 9 15.5172 RNPEPL1 0 genome.wustl.edu 37 2 241512610 241512610 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 241512610 241512610 G A SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known silent c.60 p.E20 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 14 0 0 15 3 16.6667 RNPEPL1 0 genome.wustl.edu 37 2 241516387 241516387 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 241516387 241516387 C T SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known missense c.1171 p.R391W 1.000 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 114 0 0 73 17 18.8889 MTERFD2 0 genome.wustl.edu 37 2 242027902 242027902 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 242027902 242027902 C T SNP MTERFD2 ENST00000455202 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTERFD2 HGNC ENSG00000122085 35 0 0 21 7 25 PASK 0 genome.wustl.edu 37 2 242065690 242065690 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 242065690 242065690 G A SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.2640 p.R880 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 182 0 0 102 32 23.8806 ITSN2 0 genome.wustl.edu 37 2 24521655 24521655 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 24521655 24521655 C T SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.1373 p.R458H 0.998 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 239 0 0 107 36 25.1748 ASXL2 0 genome.wustl.edu 37 2 25965592 25965592 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 25965592 25965592 G A SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.3614 p.A1205V 0.655 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 163 0 0 92 27 22.6891 KIF3C 0 genome.wustl.edu 37 2 26178514 26178514 + Missense_Mutation SNP T T A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 26178514 26178514 T A SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.1666 p.M556L 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 141 0 0 109 34 23.7762 KIF3C 0 genome.wustl.edu 37 2 26178519 26178519 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 26178519 26178519 C T SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.1661 p.R554Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 138 1 0.719424 109 31 22.1429 HADHB 0 genome.wustl.edu 37 2 26492864 26492864 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 26492864 26492864 A T SNP HADHB ENST00000317799 human ensembl 74_37 +1 known missense c.253 p.T85S 0.924 pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase - no_errors HADHB HGNC ENSG00000138029 153 0 0 101 6 5.60748 SLC35F6 0 genome.wustl.edu 37 2 26998046 26998046 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 26998046 26998046 G A SNP SLC35F6 ENST00000344420 human ensembl 74_37 +1 known silent c.285 p.A95 1.000 pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pirsf_UCP036436 pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436 - no_errors SLC35F6 HGNC ENSG00000213699 140 0 0 76 21 21.6495 ABHD1 0 genome.wustl.edu 37 2 27351875 27351875 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 27351875 27351875 G A SNP ABHD1 ENST00000316470 human ensembl 74_37 +1 known missense c.338 p.S113N 0.040 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD1 HGNC ENSG00000143994 156 0 0 96 29 23.2 TMEM178A 0 genome.wustl.edu 37 2 39944310 39944310 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 39944310 39944310 T C SNP TMEM178A ENST00000281961 human ensembl 74_37 +1 known silent c.813 p.A271 1.000 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 188 1 0.529101 102 24 19.0476 MSH6 0 genome.wustl.edu 37 2 48026138 48026138 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 48026138 48026138 C A SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.1016 p.A339D 0.998 pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 291 0 0 219 48 17.9775 LHCGR 0 genome.wustl.edu 37 2 48915426 48915426 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 48915426 48915426 C T SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1510 p.G504S 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 201 0 0 127 21 14.1892 GPR75 0 genome.wustl.edu 37 2 54080276 54080276 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 54080276 54080276 C T SNP GPR75 ENST00000394705 human ensembl 74_37 -1 known missense c.1618 p.V540I 1.000 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR75 HGNC ENSG00000119737 158 0 0 94 15 13.7615 MXD1 0 genome.wustl.edu 37 2 70164409 70164409 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 70164409 70164409 C T SNP MXD1 ENST00000264444 human ensembl 74_37 +1 known nonsense c.361 p.Q121* 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD1 HGNC ENSG00000059728 196 0 0 134 45 25.1397 ASPRV1 0 genome.wustl.edu 37 2 70188638 70188638 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 70188638 70188638 C T SNP ASPRV1 ENST00000320256 human ensembl 74_37 -1 known silent c.183 p.A61 0.993 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 92 0 0 60 16 21.0526 DYSF 0 genome.wustl.edu 37 2 71894590 71894590 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 71894590 71894590 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.5378 p.P1793L 0.922 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 143 0 0 89 41 31.5385 EGR4 0 genome.wustl.edu 37 2 73518943 73518943 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 73518943 73518943 G A SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known missense c.1412 p.T471M 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 23 0 0 17 8 32 ALMS1 0 genome.wustl.edu 37 2 73677057 73677057 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 73677057 73677057 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.3400 p.G1134S 0.014 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 356 1 0.280112 204 49 19.3676 DCTN1 0 genome.wustl.edu 37 2 74597938 74597938 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 74597938 74597938 C T SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known silent c.858 p.A286 0.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 199 2 0.995025 134 35 20.7101 LOXL3 0 genome.wustl.edu 37 2 74761465 74761465 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 74761465 74761465 G A SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known silent c.1917 p.L639 0.998 pfam_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 153 0 0 85 37 30.3279 REG1A 0 genome.wustl.edu 37 2 79348754 79348754 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 79348754 79348754 G A SNP REG1A ENST00000233735 human ensembl 74_37 +1 known missense c.131 p.R44H 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC ENSG00000115386 397 0 0 238 68 22.2222 MAT2A 0 genome.wustl.edu 37 2 85769750 85769750 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 85769750 85769750 T C SNP MAT2A ENST00000306434 human ensembl 74_37 +1 known silent c.831 p.H277 0.994 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC ENSG00000168906 107 0 0 50 18 26.4706 ASAP2 0 genome.wustl.edu 37 2 9525431 9525431 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 9525431 9525431 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known nonsense c.2074 p.R692* 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 86 0 0 55 9 14.0625 ADRA2B 0 genome.wustl.edu 37 2 96781451 96781451 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 96781451 96781451 C T SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known silent c.438 p.P146 0.968 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 56 0 0 41 5 10.8696 KIAA1211L 0 genome.wustl.edu 37 2 99413824 99413824 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 99413824 99413824 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known missense c.2593 p.E865K 0.498 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 190 0 0 143 34 19.209 JAG1 0 genome.wustl.edu 37 20 10622291 10622291 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 10622291 10622291 G A SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known silent c.2733 p.C911 1.000 smart_VWC_out,smart_VWF_C pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 119 0 0 68 5 6.84932 ENSG00000270408 0 genome.wustl.edu 37 20 10626776 10626776 + RNA SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 10626776 10626776 A G SNP ENSG00000270408 ENST00000488480 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors JAG1 Clone_based_vega_gene ENSG00000270408 41 0 0 26 8 23.5294 SEL1L2 0 genome.wustl.edu 37 20 13839964 13839964 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 13839964 13839964 C T SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.1762 p.A588T 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 48 0 0 25 16 39.0244 FLRT3 0 genome.wustl.edu 37 20 14308143 14308143 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 14308143 14308143 C T SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.10 p.A4T 0.997 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 69 0 0 42 8 16 SYNDIG1 0 genome.wustl.edu 37 20 24524024 24524024 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 24524024 24524024 C T SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known silent c.291 p.G97 0.007 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 163 0 0 98 29 22.8346 ZNF343 0 genome.wustl.edu 37 20 2465000 2465000 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 2465000 2465000 T G SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known missense c.607 p.S203R 0.055 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 ZNF343 HGNC ENSG00000088876 191 0 0 137 29 17.4699 ASXL1 0 genome.wustl.edu 37 20 31023213 31023213 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 31023213 31023213 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.2698 p.P900S 0.001 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 194 1 0.512821 113 37 24.6667 DNMT3B 0 genome.wustl.edu 37 20 31375119 31375119 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 31375119 31375119 C T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known silent c.516 p.D172 0.336 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 228 0 0 160 28 14.8936 BPIFA2 0 genome.wustl.edu 37 20 31756984 31756984 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 31756984 31756984 C T SNP BPIFA2 ENST00000253362 human ensembl 74_37 +1 known silent c.33 p.C11 0.133 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 275 0 0 155 40 20.5128 ZNF341 0 genome.wustl.edu 37 20 32328795 32328795 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 32328795 32328795 C T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.119 p.A40V 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 78 0 0 59 12 16.9014 AHCY 0 genome.wustl.edu 37 20 32878577 32878577 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 32878577 32878577 G A SNP AHCY ENST00000217426 human ensembl 74_37 -1 known silent c.726 p.T242 0.001 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCY HGNC ENSG00000101444 282 0 0 202 37 15.4812 DLGAP4 0 genome.wustl.edu 37 20 35060160 35060160 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 35060160 35060160 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.40 p.D14N 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 104 0 0 59 19 24.359 RPN2 0 genome.wustl.edu 37 20 35852284 35852284 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 35852284 35852284 A G SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.1096 p.R366G 1.000 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 106 0 0 54 12 18.1818 TTI1 0 genome.wustl.edu 37 20 36640052 36640052 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 36640052 36640052 G A SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known silent c.2167 p.L723 0.995 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 114 0 0 44 10 18.5185 ZHX3 0 genome.wustl.edu 37 20 39831909 39831909 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 39831909 39831909 G A SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.1648 p.R550W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 141 0 0 82 30 26.7857 RBCK1 0 genome.wustl.edu 37 20 409197 409197 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 409197 409197 C T SNP RBCK1 ENST00000356286 human ensembl 74_37 +1 known silent c.1272 p.N424 0.787 NULL pfam_Znf_C6HC,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Znf_RING,pfscan_Znf_RanBP2,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors RBCK1 HGNC ENSG00000125826 30 0 0 27 3 10 PTPRT 0 genome.wustl.edu 37 20 41101110 41101110 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 41101110 41101110 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1246 p.R416C 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 101 0 0 62 8 11.4286 ADA 0 genome.wustl.edu 37 20 43255112 43255112 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 43255112 43255112 G T SNP ADA ENST00000372874 human ensembl 74_37 -1 known missense c.347 p.P116H 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 96 0 0 79 13 14.1304 MMP9 0 genome.wustl.edu 37 20 44639209 44639209 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 44639209 44639209 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known silent c.459 p.P153 0.132 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 42 0 0 28 7 20 CDH22 0 genome.wustl.edu 37 20 44869687 44869687 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 44869687 44869687 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known silent c.465 p.I155 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 145 0 0 82 15 15.4639 ZNF334 0 genome.wustl.edu 37 20 45130930 45130930 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 45130930 45130930 C T SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.1048 p.E350K 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 ZNF334 HGNC ENSG00000198185 380 0 0 223 77 25.6667 SLC9A8 0 genome.wustl.edu 37 20 48503378 48503378 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 48503378 48503378 C T SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known silent c.1629 p.F543 0.971 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 128 0 0 90 30 25 KCNG1 0 genome.wustl.edu 37 20 49626608 49626608 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 49626608 49626608 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.268 p.G90S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 72 0 0 45 4 8.16327 TFAP2C 0 genome.wustl.edu 37 20 55206380 55206380 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 55206380 55206380 G A SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known silent c.168 p.P56 0.061 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 82 0 0 61 17 21.7949 APCDD1L 0 genome.wustl.edu 37 20 57042206 57042206 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 57042206 57042206 G A SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known missense c.730 p.H244Y 0.996 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 70 0 0 48 14 22.5806 TAF4 0 genome.wustl.edu 37 20 60585189 60585189 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 60585189 60585189 C T SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known silent c.1674 p.T558 0.052 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 107 0 0 65 10 13.3333 SLCO4A1 0 genome.wustl.edu 37 20 61291766 61291766 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 61291766 61291766 C T SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known missense c.890 p.T297M 0.995 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 71 0 0 36 14 28 DIDO1 0 genome.wustl.edu 37 20 61528133 61528133 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 61528133 61528133 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.1804 p.A602T 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 185 1 0.537634 132 17 11.4094 COL20A1 0 genome.wustl.edu 37 20 61944531 61944531 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 61944531 61944531 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known silent c.2139 p.Y713 0.170 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 59 0 0 21 6 22.2222 ZGPAT 0 genome.wustl.edu 37 20 62365068 62365068 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 62365068 62365068 C T SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known missense c.848 p.T283M 0.000 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 166 0 0 123 33 21.1538 ZBTB46 0 genome.wustl.edu 37 20 62421359 62421359 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 62421359 62421359 A G SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.752 p.V251A 0.000 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 95 0 0 59 4 6.34921 ANKRD20A11P 0 genome.wustl.edu 37 21 15352124 15352124 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 15352124 15352124 C T SNP ANKRD20A11P ENST00000344693 human ensembl 74_37 -1 known rna NULL NULL 0.639 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 43 0 0 24 6 20 BTG3 0 genome.wustl.edu 37 21 18966420 18966420 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 18966420 18966420 T C SNP BTG3 ENST00000339775 human ensembl 74_37 -1 known silent c.882 p.A294 1.000 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG3 HGNC ENSG00000154640 86 0 0 56 4 6.66667 NCAM2 0 genome.wustl.edu 37 21 22906922 22906922 + Nonsense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 22906922 22906922 G T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known nonsense c.2347 p.E783* 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 65 0 0 55 7 11.2903 NCAM2 0 genome.wustl.edu 37 21 22906925 22906925 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 22906925 22906925 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2350 p.D784N 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 66 0 0 53 7 11.6667 RWDD2B 0 genome.wustl.edu 37 21 30380587 30380587 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 30380587 30380587 C T SNP RWDD2B ENST00000493196 human ensembl 74_37 -1 known silent c.336 p.P112 0.002 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 149 0 0 76 21 21.6495 BACH1 0 genome.wustl.edu 37 21 30701983 30701983 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 30701983 30701983 T C SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known missense c.1745 p.I582T 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP 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 BACH1 HGNC ENSG00000156273 37 0 0 20 3 13.0435 SCAF4 0 genome.wustl.edu 37 21 33063217 33063217 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 33063217 33063217 C A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.1778 p.W593L 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 164 0 0 88 23 20.7207 IFNAR1 0 genome.wustl.edu 37 21 34697419 34697419 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 34697419 34697419 T C SNP IFNAR1 ENST00000270139 human ensembl 74_37 +1 known missense c.59 p.V20A 0.029 pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 28 0 0 16 6 27.2727 IFNAR1 0 genome.wustl.edu 37 21 34713411 34713411 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 34713411 34713411 C T SNP IFNAR1 ENST00000270139 human ensembl 74_37 +1 known missense c.307 p.R103C 0.915 superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 92 0 0 67 16 19.2771 DOPEY2 0 genome.wustl.edu 37 21 37571453 37571453 + Missense_Mutation SNP T T A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 37571453 37571453 T A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.224 p.L75Q 1.000 pfam_Dopey_N pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 152 0 0 67 20 22.9885 DSCR10 0 genome.wustl.edu 37 21 39580610 39580610 + RNA SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 39580610 39580610 A G SNP DSCR10 ENST00000432141 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DSCR10 HGNC ENSG00000233316 246 0 0 152 41 21.2435 DSCAM 0 genome.wustl.edu 37 21 41725614 41725614 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 41725614 41725614 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.712 p.A238T 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 49 0 0 34 10 22.7273 C2CD2 0 genome.wustl.edu 37 21 43342111 43342111 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 43342111 43342111 G A SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known silent c.462 p.Y154 0.000 NULL pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 88 0 0 57 13 18.5714 POFUT2 0 genome.wustl.edu 37 21 46686228 46686228 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 46686228 46686228 C T SNP POFUT2 ENST00000485190 human ensembl 74_37 -1 putative rna NULL NULL 0.008 - - - no_errors POFUT2 HGNC ENSG00000186866 56 0 0 36 10 21.7391 POFUT2 0 genome.wustl.edu 37 21 46703350 46703350 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 46703350 46703350 G A SNP POFUT2 ENST00000349485 human ensembl 74_37 -1 known missense c.475 p.R159W 0.906 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 420 0 0 245 82 25.0765 COL18A1 0 genome.wustl.edu 37 21 46896330 46896330 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 46896330 46896330 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.2109 p.G703 0.026 NULL 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 67 0 0 38 10 20.8333 COL6A2 0 genome.wustl.edu 37 21 47552032 47552032 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 47552032 47552032 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2626 p.R876C 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 12 0 0 8 5 38.4615 PCNT 0 genome.wustl.edu 37 21 47746486 47746486 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 47746486 47746486 G T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.250 p.G84W 0.054 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 184 0 0 107 22 17.0543 TPTEP1 0 genome.wustl.edu 37 22 17119478 17119478 + RNA SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 17119478 17119478 A T SNP TPTEP1 ENST00000383140 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TPTEP1 HGNC ENSG00000100181 83 0 0 44 10 18.5185 MICAL3 0 genome.wustl.edu 37 22 18305761 18305761 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 18305761 18305761 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.3259 p.A1087T 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 74 0 0 52 17 24.6377 HIRA 0 genome.wustl.edu 37 22 19319037 19319037 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 19319037 19319037 T C SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.2980 p.I994V 1.000 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 123 0 0 62 19 23.4568 HIRA 0 genome.wustl.edu 37 22 19371200 19371200 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 19371200 19371200 C T SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.1358 p.R453Q 1.000 pfam_HIRA_B_motif pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 132 0 0 96 36 27.2727 TXNRD2 0 genome.wustl.edu 37 22 19868175 19868175 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 19868175 19868175 G A SNP TXNRD2 ENST00000535882 human ensembl 74_37 -1 known silent c.1149 p.G383 0.002 tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 85 0 0 37 9 19.5652 HIC2 0 genome.wustl.edu 37 22 21799992 21799992 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 21799992 21799992 G A SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.808 p.A270T 0.278 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 162 0 0 104 29 21.8045 ZNF70 0 genome.wustl.edu 37 22 24086656 24086656 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 24086656 24086656 G A SNP ZNF70 ENST00000341976 human ensembl 74_37 -1 known silent c.672 p.Y224 0.104 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 126 0 0 83 15 15.3061 ADRBK2 0 genome.wustl.edu 37 22 26117303 26117303 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 26117303 26117303 A T SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known missense c.1844 p.K615I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 ADRBK2 HGNC ENSG00000100077 107 0 0 76 10 11.6279 TFIP11 0 genome.wustl.edu 37 22 26888055 26888055 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 26888055 26888055 C T SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.2438 p.R813Q 1.000 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 41 0 0 31 8 20.5128 CRYBB1 0 genome.wustl.edu 37 22 26997907 26997907 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 26997907 26997907 C T SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.511 p.A171T 0.994 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 CRYBB1 HGNC ENSG00000100122 105 0 0 53 25 32.0513 EMID1 0 genome.wustl.edu 37 22 29654828 29654828 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 29654828 29654828 G A SNP EMID1 ENST00000334018 human ensembl 74_37 +1 known silent c.1227 p.A409 1.000 NULL pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 133 1 0.746269 87 14 13.8614 SEC14L4 0 genome.wustl.edu 37 22 30888481 30888481 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 30888481 30888481 C A SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known missense c.644 p.R215M 0.928 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 63 0 0 50 8 13.7931 SMTN 0 genome.wustl.edu 37 22 31487265 31487265 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 31487265 31487265 G T SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.1256 p.R419L 1.000 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 18 0 0 10 4 28.5714 SFI1 0 genome.wustl.edu 37 22 32007153 32007153 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 32007153 32007153 G A SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.2279 p.R760H 0.007 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 149 0 0 92 27 22.6891 APOL3 0 genome.wustl.edu 37 22 36537739 36537739 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 36537739 36537739 C T SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.718 p.V240M 0.068 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 76 0 0 50 15 23.0769 TEX33 0 genome.wustl.edu 37 22 37387547 37387547 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 37387547 37387547 C T SNP TEX33 ENST00000381821 human ensembl 74_37 -1 known nonsense c.720 p.W240* 1.000 NULL NULL - no_errors TEX33 HGNC ENSG00000185264 267 1 0.373134 187 33 15 POLR2F 0 genome.wustl.edu 37 22 38363644 38363644 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 38363644 38363644 C T SNP POLR2F ENST00000442738 human ensembl 74_37 +1 known silent c.306 p.I102 1.000 pfam_Pol_omega/K/RPB6,superfamily_Pol_omega/K/RPB6 pfam_Pol_omega/K/RPB6,superfamily_Pol_omega/K/RPB6 - no_errors POLR2F HGNC ENSG00000100142 130 0 0 78 27 25.7143 CYP2D6 0 genome.wustl.edu 37 22 42524899 42524899 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 42524899 42524899 C T SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.553 p.V185M 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 18 0 0 8 3 27.2727 MPPED1 0 genome.wustl.edu 37 22 43870822 43870822 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 43870822 43870822 C T SNP MPPED1 ENST00000538182 human ensembl 74_37 +1 known missense c.712 p.R238W 0.906 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 92 0 0 44 18 29.0323 SMC1B 0 genome.wustl.edu 37 22 45755790 45755790 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 45755790 45755790 C T SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known silent c.2757 p.L919 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_t-SNARE pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 107 0 0 60 14 18.9189 SMC1B 0 genome.wustl.edu 37 22 45809346 45809346 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 45809346 45809346 C T SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.103 p.G35S 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 27 0 0 13 4 23.5294 FBLN1 0 genome.wustl.edu 37 22 45996231 45996231 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 45996231 45996231 G A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.2017 p.V673I 0.099 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 534 1 0.186916 390 98 20.082 PANX2 0 genome.wustl.edu 37 22 50615790 50615790 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 50615790 50615790 C T SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known missense c.649 p.R217C 1.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 36 0 0 19 7 26.9231 MAPK12 0 genome.wustl.edu 37 22 50694077 50694077 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 50694077 50694077 C T SNP MAPK12 ENST00000215659 human ensembl 74_37 -1 known silent c.738 p.P246 0.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38 - no_errors MAPK12 HGNC ENSG00000188130 216 0 0 120 27 18.3673 KLHDC7B 0 genome.wustl.edu 37 22 50987980 50987980 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 50987980 50987980 G A SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.1385 p.R462H 1.000 smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 177 0 0 91 27 22.8814 IMPG2 0 genome.wustl.edu 37 3 100964716 100964716 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 100964716 100964716 C T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known silent c.1473 p.P491 1.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 236 0 0 207 52 20.0772 DPPA4 0 genome.wustl.edu 37 3 109049450 109049450 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 109049450 109049450 C A SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known missense c.600 p.E200D 0.001 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 173 0 0 105 51 32.6923 PHLDB2 0 genome.wustl.edu 37 3 111604188 111604188 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 111604188 111604188 C T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1264 p.R422C 0.807 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 177 0 0 119 63 34.6154 SPICE1 0 genome.wustl.edu 37 3 113212908 113212908 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 113212908 113212908 G A SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known missense c.373 p.R125C 0.982 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 74 0 0 69 11 13.75 ZBTB20 0 genome.wustl.edu 37 3 114058088 114058088 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 114058088 114058088 A G SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1990 p.C664R 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 ZBTB20 HGNC ENSG00000181722 263 1 0.378788 202 43 17.551 SLC15A2 0 genome.wustl.edu 37 3 121658261 121658261 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 121658261 121658261 G A SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known silent c.1827 p.A609 0.997 superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 196 0 0 106 73 40.7821 MYLK 0 genome.wustl.edu 37 3 123419170 123419170 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 123419170 123419170 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.3145 p.P1049S 0.001 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 537 0 0 345 212 38.061 ROPN1B 0 genome.wustl.edu 37 3 125701223 125701223 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 125701223 125701223 C T SNP ROPN1B ENST00000251776 human ensembl 74_37 +1 known silent c.507 p.A169 0.922 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC ENSG00000114547 176 0 0 126 25 16.5563 ABTB1 0 genome.wustl.edu 37 3 127396654 127396654 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 127396654 127396654 G A SNP ABTB1 ENST00000232744 human ensembl 74_37 +1 known missense c.997 p.V333M 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 23 0 0 20 9 31.0345 ACAD11 0 genome.wustl.edu 37 3 132349315 132349315 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 132349315 132349315 G A SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known missense c.929 p.A310V 1.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 128 0 0 77 34 30.6306 UBA5 0 genome.wustl.edu 37 3 132387690 132387690 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 132387690 132387690 A T SNP UBA5 ENST00000356232 human ensembl 74_37 +1 known missense c.326 p.E109V 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA5 HGNC ENSG00000081307 118 0 0 91 6 6.18557 NUP210 0 genome.wustl.edu 37 3 13367333 13367333 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 13367333 13367333 A G SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.4606 p.Y1536H 0.986 superfamily_Invasin/intimin_cell_adhesion pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 188 0 0 173 28 13.9303 CNTN6 0 genome.wustl.edu 37 3 1339624 1339624 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 1339624 1339624 T C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.710 p.I237T 0.728 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 165 0 0 133 7 5 DBR1 0 genome.wustl.edu 37 3 137880841 137880841 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 137880841 137880841 G A SNP DBR1 ENST00000260803 human ensembl 74_37 -1 known missense c.1525 p.P509S 0.000 NULL pfam_DBR1_C,pfam_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 302 1 0.330033 189 87 31.5217 GRIP2 0 genome.wustl.edu 37 3 14538015 14538015 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 14538015 14538015 G A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors GRIP2 HGNC ENSG00000144596 29 0 0 24 11 31.4286 MED12L 0 genome.wustl.edu 37 3 150883689 150883689 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 150883689 150883689 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.1414 p.D472N 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 226 0 0 184 11 5.64103 IGSF10 0 genome.wustl.edu 37 3 151161469 151161469 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 151161469 151161469 T C SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.5266 p.T1756A 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 116 0 0 74 33 30.8411 PTX3 0 genome.wustl.edu 37 3 157154774 157154774 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 157154774 157154774 G A SNP PTX3 ENST00000295927 human ensembl 74_37 +1 known missense c.52 p.E18K 0.175 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin - no_errors PTX3 HGNC ENSG00000163661 250 0 0 177 40 18.4332 EIF5A2 0 genome.wustl.edu 37 3 170611132 170611132 + RNA SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 170611132 170611132 A G SNP EIF5A2 ENST00000460117 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors EIF5A2 HGNC ENSG00000163577 95 0 0 61 30 32.967 GHSR 0 genome.wustl.edu 37 3 172165336 172165336 + Nonstop_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 172165336 172165336 A G SNP GHSR ENST00000427970 human ensembl 74_37 -1 known nonstop c.868 p.*290R 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 113 0 0 86 23 21.1009 TBL1XR1 0 genome.wustl.edu 37 3 176756141 176756141 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 176756141 176756141 A G SNP TBL1XR1 ENST00000430069 human ensembl 74_37 -1 known missense c.1007 p.L336S 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 19 0 0 5 3 37.5 ECE2 0 genome.wustl.edu 37 3 184005700 184005700 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 184005700 184005700 G A SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.1693 p.V565M 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 140 0 0 80 48 37.5 TRA2B 0 genome.wustl.edu 37 3 185641637 185641637 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 185641637 185641637 G A SNP TRA2B ENST00000453386 human ensembl 74_37 -1 known missense c.469 p.R157C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 140 0 0 108 27 20 KNG1 0 genome.wustl.edu 37 3 186456933 186456933 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 186456933 186456933 A G SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.976 p.T326A 0.998 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 88 0 0 57 14 19.7183 CPN2 0 genome.wustl.edu 37 3 194062974 194062974 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 194062974 194062974 T C SNP CPN2 ENST00000323830 human ensembl 74_37 -1 known missense c.458 p.Q153R 0.508 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 111 0 0 67 17 20.2381 FAM43A 0 genome.wustl.edu 37 3 194408798 194408798 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 194408798 194408798 G A SNP FAM43A ENST00000329759 human ensembl 74_37 +1 known missense c.1243 p.A415T 0.208 NULL smart_PTB/PI_dom - no_errors FAM43A HGNC ENSG00000185112 18 0 0 12 5 29.4118 NRROS 0 genome.wustl.edu 37 3 196387199 196387199 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 196387199 196387199 C T SNP NRROS ENST00000328557 human ensembl 74_37 +1 known missense c.685 p.R229W 0.111 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 103 0 0 59 36 37.8947 PAK2 0 genome.wustl.edu 37 3 196539089 196539089 + Splice_Site SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 196539089 196539089 G A SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known splice_site c.774-1 e8-1 1.000 - - - no_errors PAK2 HGNC ENSG00000180370 143 0 0 112 15 11.811 KIAA0226 0 genome.wustl.edu 37 3 197444966 197444966 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 197444966 197444966 G A SNP KIAA0226 ENST00000296343 human ensembl 74_37 -1 known missense c.101 p.T34M 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 90 0 0 99 7 6.60377 SGOL1 0 genome.wustl.edu 37 3 20216058 20216058 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 20216058 20216058 T G SNP SGOL1 ENST00000263753 human ensembl 74_37 -1 known missense c.965 p.Q322P 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 55 0 0 27 19 41.3043 GPD1L 0 genome.wustl.edu 37 3 32200470 32200470 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 32200470 32200470 G A SNP GPD1L ENST00000282541 human ensembl 74_37 +1 known missense c.721 p.A241T 1.000 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1L HGNC ENSG00000152642 137 1 0.724638 139 9 6.08108 PDCD6IP 0 genome.wustl.edu 37 3 33887074 33887074 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 33887074 33887074 C T SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known silent c.1650 p.G550 1.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 109 0 0 79 18 18.5567 TRANK1 0 genome.wustl.edu 37 3 36884133 36884133 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 36884133 36884133 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.5128 p.A1710T 1.000 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 45 0 0 22 4 15.3846 ITGA9 0 genome.wustl.edu 37 3 37574834 37574834 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 37574834 37574834 C A SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known missense c.1403 p.S468Y 1.000 pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 104 0 0 65 17 20.7317 VILL 0 genome.wustl.edu 37 3 38048186 38048186 + Silent SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 38048186 38048186 A C SNP VILL ENST00000283713 human ensembl 74_37 +1 known silent c.2452 p.R818 0.986 superfamily_Villin_headpiece,pfscan_Villin_headpiece pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 109 0 0 59 31 34.4444 SCN10A 0 genome.wustl.edu 37 3 38763831 38763831 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 38763831 38763831 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.3425 p.R1142H 1.000 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 165 0 0 119 24 16.7832 KLHL40 0 genome.wustl.edu 37 3 42727821 42727821 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 42727821 42727821 C T SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known silent c.711 p.R237 0.998 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 31 0 0 18 14 43.75 CYP8B1 0 genome.wustl.edu 37 3 42916264 42916264 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 42916264 42916264 G A SNP CYP8B1 ENST00000316161 human ensembl 74_37 -1 known missense c.1045 p.R349W 0.176 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 84 0 0 65 30 31.5789 CHL1 0 genome.wustl.edu 37 3 447269 447269 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 447269 447269 G A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.3550 p.G1184R 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 130 0 0 80 34 29.8246 LARS2 0 genome.wustl.edu 37 3 45527192 45527192 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 45527192 45527192 A G SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known missense c.1027 p.T343A 1.000 superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 346 0 0 217 120 35.6083 PRSS50 0 genome.wustl.edu 37 3 46754421 46754421 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 46754421 46754421 C T SNP PRSS50 ENST00000315170 human ensembl 74_37 -1 known silent c.891 p.A297 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS50 HGNC ENSG00000206549 282 0 0 192 100 34.2466 PTPN23 0 genome.wustl.edu 37 3 47448823 47448823 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 47448823 47448823 G A SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.889 p.A297T 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 220 0 0 136 64 32 DHX30 0 genome.wustl.edu 37 3 47888228 47888228 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 47888228 47888228 G A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.1666 p.V556I 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 68 0 0 49 20 28.9855 DHX30 0 genome.wustl.edu 37 3 47890951 47890951 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 47890951 47890951 G A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.3098 p.G1033D 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 91 0 0 74 27 26.7327 COL7A1 0 genome.wustl.edu 37 3 48605162 48605162 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 48605162 48605162 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.7964 p.A2655V 0.990 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 302 0 0 283 26 8.41424 TMEM89 0 genome.wustl.edu 37 3 48658932 48658932 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 48658932 48658932 C T SNP TMEM89 ENST00000330862 human ensembl 74_37 -1 known silent c.258 p.L86 0.087 NULL NULL - no_errors TMEM89 HGNC ENSG00000183396 42 0 0 51 11 17.7419 IP6K2 0 genome.wustl.edu 37 3 48732353 48732353 + Silent SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 48732353 48732353 G T SNP IP6K2 ENST00000433104 human ensembl 74_37 -1 known silent c.372 p.P124 1.000 NULL NULL - no_errors IP6K2 HGNC ENSG00000068745 12 0 0 7 2 22.2222 PRKAR2A 0 genome.wustl.edu 37 3 48789046 48789046 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 48789046 48789046 C T SNP PRKAR2A ENST00000265563 human ensembl 74_37 -1 known missense c.1187 p.S396N 1.000 superfamily_cNMP-bd-like,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 PRKAR2A HGNC ENSG00000114302 61 0 0 43 5 10.4167 USP19 0 genome.wustl.edu 37 3 49154769 49154769 + Missense_Mutation SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 49154769 49154769 A C SNP USP19 ENST00000434032 human ensembl 74_37 -1 novel missense c.632 p.L211R 0.080 superfamily_HSP20-like_chaperone pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 69 0 0 68 4 5.55556 LAMB2 0 genome.wustl.edu 37 3 49160403 49160403 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 49160403 49160403 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.4307 p.R1436H 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 51 0 0 35 7 16.6667 BSN 0 genome.wustl.edu 37 3 49693698 49693698 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 49693698 49693698 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.6709 p.P2237S 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 81 0 0 82 11 11.828 RBM6 0 genome.wustl.edu 37 3 50106123 50106123 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 50106123 50106123 C T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known nonsense c.2944 p.Q982* 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 50 0 0 54 12 18.1818 SEMA3B 0 genome.wustl.edu 37 3 50313251 50313251 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 50313251 50313251 C T SNP SEMA3B ENST00000316347 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors SEMA3B HGNC ENSG00000012171 53 0 0 29 19 39.5833 HYAL2 0 genome.wustl.edu 37 3 50357842 50357842 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 50357842 50357842 C T SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known missense c.79 p.A27T 0.015 pfam_Hyaluronidase,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 17 0 0 33 3 8.33333 DOCK3 0 genome.wustl.edu 37 3 51395259 51395259 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 51395259 51395259 T G SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.4754 p.L1585R 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 131 0 0 108 11 9.2437 GRM2 0 genome.wustl.edu 37 3 51752116 51752116 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 51752116 51752116 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known silent c.2607 p.T869 0.671 prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt_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_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 302 0 0 247 54 17.9402 PARP3 0 genome.wustl.edu 37 3 51979569 51979569 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 51979569 51979569 C T SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known missense c.941 p.T314M 0.323 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 105 0 0 109 9 7.62712 DNAH1 0 genome.wustl.edu 37 3 52391956 52391956 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 52391956 52391956 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.4023 p.S1341 0.421 pfam_Dynein_heavy_dom-2,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 66 0 0 63 7 10 PRKCD 0 genome.wustl.edu 37 3 53220294 53220294 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 53220294 53220294 G A SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known missense c.1198 p.V400M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,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,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 123 0 0 101 19 15.8333 DCP1A 0 genome.wustl.edu 37 3 53326194 53326194 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 53326194 53326194 T C SNP DCP1A ENST00000607628 human ensembl 74_37 -1 known missense c.1288 p.T430A 1.000 NULL pfam_DCP1 - no_errors DCP1A HGNC ENSG00000162290 269 1 0.37037 230 48 17.2662 CACNA1D 0 genome.wustl.edu 37 3 53531320 53531320 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 53531320 53531320 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.209 p.S70N 1.000 prints_LVDCC_a1dsu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 135 0 0 70 51 42.1488 LRTM1 0 genome.wustl.edu 37 3 54952605 54952605 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 54952605 54952605 C T SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.919 p.A307T 0.858 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 241 0 0 174 34 16.3462 FAM208A 0 genome.wustl.edu 37 3 56657240 56657240 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 56657240 56657240 A G SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.4655 p.V1552A 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 127 0 0 102 7 6.42202 FLNB 0 genome.wustl.edu 37 3 58155348 58155348 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 58155348 58155348 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.7449 p.N2483 0.004 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 187 0 0 115 51 30.7229 ATXN7 0 genome.wustl.edu 37 3 63973915 63973915 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 63973915 63973915 C T SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.1276 p.H426Y 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 336 1 0.296736 224 149 39.9464 MAGI1 0 genome.wustl.edu 37 3 65344808 65344808 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 65344808 65344808 G A SNP MAGI1 ENST00000330909 human ensembl 74_37 -1 known silent c.3738 p.I1246 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 352 1 0.283286 265 45 14.5161 BRPF1 0 genome.wustl.edu 37 3 9786077 9786077 + Silent SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 9786077 9786077 G C SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known silent c.2805 p.G935 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 52 0 0 29 6 17.1429 TET2 0 genome.wustl.edu 37 4 106156409 106156409 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 106156409 106156409 A G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.1310 p.Y437C 0.186 NULL NULL - no_errors TET2 HGNC ENSG00000168769 114 0 0 60 11 15.493 PAPSS1 0 genome.wustl.edu 37 4 108615044 108615044 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 108615044 108615044 A G SNP PAPSS1 ENST00000265174 human ensembl 74_37 -1 known silent c.294 p.N98 0.999 pfam_APS_kinase,superfamily_P-loop_NTPase,tigrfam_APS_kinase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC ENSG00000138801 117 0 0 74 11 12.9412 LEF1 0 genome.wustl.edu 37 4 109084737 109084737 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 109084737 109084737 G A SNP LEF1 ENST00000265165 human ensembl 74_37 -1 known missense c.401 p.P134L 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors LEF1 HGNC ENSG00000138795 236 0 0 123 28 18.543 LEF1 0 genome.wustl.edu 37 4 109086329 109086329 + RNA SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 109086329 109086329 T C SNP LEF1 ENST00000509428 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LEF1 HGNC ENSG00000138795 192 0 0 111 25 18.3824 PITX2 0 genome.wustl.edu 37 4 111553611 111553611 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 111553611 111553611 A G SNP PITX2 ENST00000354925 human ensembl 74_37 -1 known silent c.72 p.C24 1.000 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 PITX2 HGNC ENSG00000164093 159 1 0.625 99 13 11.6071 USP53 0 genome.wustl.edu 37 4 120177651 120177651 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 120177651 120177651 T C SNP USP53 ENST00000274030 human ensembl 74_37 +1 known missense c.542 p.V181A 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 175 0 0 111 20 15.2672 USP53 0 genome.wustl.edu 37 4 120193037 120193037 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 120193037 120193037 G A SNP USP53 ENST00000274030 human ensembl 74_37 +1 known silent c.2022 p.V674 0.001 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 305 0 0 155 40 20.5128 ADAD1 0 genome.wustl.edu 37 4 123301319 123301319 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 123301319 123301319 C T SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.95 p.T32M 0.001 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 111 0 0 56 11 16.4179 FAT4 0 genome.wustl.edu 37 4 126370100 126370100 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 126370100 126370100 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.7929 p.D2643 0.008 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 100 0 0 47 14 22.9508 GAB1 0 genome.wustl.edu 37 4 144387375 144387375 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 144387375 144387375 T C SNP GAB1 ENST00000262995 human ensembl 74_37 +1 known silent c.2013 p.R671 0.138 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 117 0 0 68 14 17.0732 CPEB2 0 genome.wustl.edu 37 4 15060834 15060834 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 15060834 15060834 A G SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known silent c.2604 p.L868 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 157 0 0 93 23 19.8276 DCHS2 0 genome.wustl.edu 37 4 155254486 155254486 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 155254486 155254486 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.1377 p.P459 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 166 1 0.598802 107 36 25.1748 LRAT 0 genome.wustl.edu 37 4 155665562 155665562 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 155665562 155665562 C T SNP LRAT ENST00000336356 human ensembl 74_37 +1 known silent c.84 p.G28 0.000 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 102 0 0 70 25 26.3158 RBM46 0 genome.wustl.edu 37 4 155720533 155720533 + Missense_Mutation SNP T T A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 155720533 155720533 T A SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.1219 p.W407R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 98 0 0 47 15 24.1935 GRIA2 0 genome.wustl.edu 37 4 158254500 158254500 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 158254500 158254500 C T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1150 p.R384W 0.987 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 52 0 0 22 5 18.5185 TRIM60 0 genome.wustl.edu 37 4 165961522 165961522 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 165961522 165961522 C T SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known missense c.298 p.H100Y 0.997 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 100 0 0 61 22 26.506 DDX60L 0 genome.wustl.edu 37 4 169393087 169393087 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 169393087 169393087 C T SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known silent c.75 p.G25 0.213 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 20 0 0 12 3 20 IRF2 0 genome.wustl.edu 37 4 185339800 185339800 + Missense_Mutation SNP C C G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 185339800 185339800 C G SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.250 p.A84P 1.000 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 87 0 0 59 5 7.8125 CCDC110 0 genome.wustl.edu 37 4 186379494 186379494 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 186379494 186379494 G A SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known silent c.2247 p.Y749 0.217 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 52 0 0 24 6 20 SORBS2 0 genome.wustl.edu 37 4 186583258 186583258 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 186583258 186583258 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.94 p.D32N 0.997 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 49 0 0 28 12 30 SLIT2 0 genome.wustl.edu 37 4 20620584 20620584 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 20620584 20620584 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.4542 p.D1514 0.994 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 98 0 0 54 8 12.9032 LGI2 0 genome.wustl.edu 37 4 25005545 25005545 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 25005545 25005545 A G SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.1166 p.L389P 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 248 1 0.401606 228 17 6.93878 SLC34A2 0 genome.wustl.edu 37 4 25664381 25664381 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 25664381 25664381 C T SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.167 p.T56M 0.849 NULL pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 221 2 0.896861 152 39 20.4188 FAM193A 0 genome.wustl.edu 37 4 2695386 2695386 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 2695386 2695386 G A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known silent c.2004 p.T668 0.023 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 301 0 0 184 51 21.7021 RFC1 0 genome.wustl.edu 37 4 39310257 39310257 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 39310257 39310257 G A SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known silent c.1884 p.H628 0.991 superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 303 0 0 174 43 19.8157 N4BP2 0 genome.wustl.edu 37 4 40115053 40115053 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 40115053 40115053 C A SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.1589 p.S530Y 1.000 superfamily_P-loop_NTPase pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 232 0 0 133 33 19.8795 SHISA3 0 genome.wustl.edu 37 4 42403231 42403231 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 42403231 42403231 G A SNP SHISA3 ENST00000319234 human ensembl 74_37 +1 known silent c.480 p.R160 0.995 NULL NULL - no_errors SHISA3 HGNC ENSG00000178343 250 1 0.398406 183 40 17.9372 TMEM128 0 genome.wustl.edu 37 4 4248030 4248030 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 4248030 4248030 T C SNP TMEM128 ENST00000382753 human ensembl 74_37 -1 known silent c.138 p.P46 0.999 NULL NULL - no_errors TMEM128 HGNC ENSG00000132406 188 0 0 124 21 14.4828 NSG1 0 genome.wustl.edu 37 4 4411321 4411321 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 4411321 4411321 G A SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known missense c.268 p.A90T 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 115 0 0 65 20 23.5294 SLAIN2 0 genome.wustl.edu 37 4 48385778 48385778 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 48385778 48385778 G A SNP SLAIN2 ENST00000264313 human ensembl 74_37 +1 known missense c.1337 p.R446H 0.996 NULL NULL - no_errors SLAIN2 HGNC ENSG00000109171 42 0 0 20 2 9.09091 SLC10A4 0 genome.wustl.edu 37 4 48490497 48490497 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 48490497 48490497 C T SNP SLC10A4 ENST00000273861 human ensembl 74_37 +1 known silent c.855 p.G285 0.999 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 358 0 0 225 47 17.2794 SGCB 0 genome.wustl.edu 37 4 52896001 52896001 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 52896001 52896001 C T SNP SGCB ENST00000381431 human ensembl 74_37 -1 known missense c.272 p.R91H 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCB HGNC ENSG00000163069 143 0 0 88 6 6.38298 TMEM165 0 genome.wustl.edu 37 4 56283253 56283253 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 56283253 56283253 G A SNP TMEM165 ENST00000381334 human ensembl 74_37 +1 known missense c.448 p.A150T 1.000 pfam_UPF0016 pfam_UPF0016 - no_errors TMEM165 HGNC ENSG00000134851 107 0 0 62 16 20.5128 POLR2B 0 genome.wustl.edu 37 4 57860640 57860640 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 57860640 57860640 C A SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.314 p.P105H 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 53 0 0 32 10 23.8095 POLR2B 0 genome.wustl.edu 37 4 57861549 57861549 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 57861549 57861549 G A SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.709 p.V237I 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 109 0 0 79 20 20.202 IGFBP7 0 genome.wustl.edu 37 4 57907023 57907023 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 57907023 57907023 G A SNP IGFBP7 ENST00000295666 human ensembl 74_37 -1 known silent c.552 p.I184 0.991 pfam_Ig_I-set,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors IGFBP7 HGNC ENSG00000163453 50 0 0 24 11 31.4286 LPHN3 0 genome.wustl.edu 37 4 62801758 62801758 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 62801758 62801758 G A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2414 p.R805Q 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 36 0 0 13 4 23.5294 MAN2B2 0 genome.wustl.edu 37 4 6588761 6588761 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 6588761 6588761 C T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.430 p.P144S 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 98 0 0 60 20 25 UGT2A3 0 genome.wustl.edu 37 4 69795767 69795767 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 69795767 69795767 G A SNP UGT2A3 ENST00000251566 human ensembl 74_37 -1 known nonsense c.1348 p.Q450* 0.559 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 224 0 0 143 23 13.8554 SHROOM3 0 genome.wustl.edu 37 4 77661573 77661573 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 77661573 77661573 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known silent c.2247 p.S749 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 68 0 0 37 9 19.5652 C4orf22 0 genome.wustl.edu 37 4 81884720 81884720 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 81884720 81884720 A G SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known missense c.707 p.Y236C 1.000 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 104 0 0 34 5 12.8205 PRKG2 0 genome.wustl.edu 37 4 82090847 82090847 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 82090847 82090847 C T SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.818 p.R273K 1.000 smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 183 0 0 88 14 13.7255 LIN54 0 genome.wustl.edu 37 4 83867618 83867618 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 83867618 83867618 A G SNP LIN54 ENST00000340417 human ensembl 74_37 -1 known missense c.961 p.S321P 1.000 NULL pfam_CRC - no_errors LIN54 HGNC ENSG00000189308 151 0 0 84 10 10.6383 TRMT44 0 genome.wustl.edu 37 4 8477523 8477523 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 8477523 8477523 G A SNP TRMT44 ENST00000389737 human ensembl 74_37 +1 known missense c.2069 p.R690H 0.995 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC ENSG00000155275 145 0 0 89 30 25.2101 CPZ 0 genome.wustl.edu 37 4 8603054 8603054 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 8603054 8603054 G A SNP CPZ ENST00000360986 human ensembl 74_37 +1 known missense c.326 p.C109Y 0.998 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 40 0 0 20 6 23.0769 ARHGAP24 0 genome.wustl.edu 37 4 86916256 86916256 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 86916256 86916256 C T SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known silent c.1449 p.R483 0.452 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 134 0 0 86 23 21.1009 KLHL8 0 genome.wustl.edu 37 4 88091651 88091651 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 88091651 88091651 G A SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.1325 p.T442I 0.161 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 182 0 0 130 16 10.9589 GRID2 0 genome.wustl.edu 37 4 94376883 94376883 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 94376883 94376883 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.1616 p.R539H 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRID2 HGNC ENSG00000152208 212 0 0 107 41 27.7027 BMPR1B 0 genome.wustl.edu 37 4 96052564 96052564 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 96052564 96052564 C T SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known missense c.1067 p.P356L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 146 0 0 75 15 16.6667 ST8SIA4 0 genome.wustl.edu 37 5 100147699 100147699 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 100147699 100147699 G A SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.932 p.A311V 0.969 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 73 0 0 43 9 17.3077 SLCO4C1 0 genome.wustl.edu 37 5 101631748 101631748 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 101631748 101631748 C T SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known silent c.219 p.E73 0.015 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 144 0 0 91 21 18.75 FAM173B 0 genome.wustl.edu 37 5 10239372 10239372 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 10239372 10239372 A G SNP FAM173B ENST00000511437 human ensembl 74_37 -1 known missense c.113 p.F38S 0.004 NULL NULL - no_errors FAM173B HGNC ENSG00000150756 184 0 0 101 28 21.7054 SEMA6A 0 genome.wustl.edu 37 5 115813758 115813758 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 115813758 115813758 A G SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.1520 p.V507A 1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 205 0 0 134 13 8.84354 FTMT 0 genome.wustl.edu 37 5 121188033 121188033 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 121188033 121188033 C T SNP FTMT ENST00000321339 human ensembl 74_37 +1 known silent c.375 p.H125 0.978 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 131 0 0 66 14 17.5 GRAMD3 0 genome.wustl.edu 37 5 125759363 125759363 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 125759363 125759363 G A SNP GRAMD3 ENST00000542322 human ensembl 74_37 +1 known missense c.46 p.A16T 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD3 HGNC ENSG00000155324 26 0 0 20 6 23.0769 ADAMTS19 0 genome.wustl.edu 37 5 128984535 128984535 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 128984535 128984535 A G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2030 p.Y677C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 180 0 0 94 17 15.3153 C5orf56 0 genome.wustl.edu 37 5 131796357 131796357 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 131796357 131796357 T C SNP C5orf56 ENST00000337752 human ensembl 74_37 +1 novel silent c.192 p.H64 0.001 NULL NULL - no_errors C5orf56 HGNC ENSG00000197536 266 1 0.374532 182 49 21.2121 FSTL4 0 genome.wustl.edu 37 5 132560966 132560966 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 132560966 132560966 G A SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known silent c.1188 p.S396 0.213 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 192 0 0 116 30 20.5479 PSD2 0 genome.wustl.edu 37 5 139193088 139193088 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 139193088 139193088 G A SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.566 p.R189H 0.556 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 120 0 0 70 24 25.5319 DNAH5 0 genome.wustl.edu 37 5 13928247 13928247 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 13928247 13928247 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.233 p.R78Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 75 0 0 63 10 13.6986 SLC35A4 0 genome.wustl.edu 37 5 139946788 139946788 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 139946788 139946788 G T SNP SLC35A4 ENST00000323146 human ensembl 74_37 +1 known missense c.34 p.G12C 1.000 pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC ENSG00000176087 199 0 0 141 29 17.0588 DND1 0 genome.wustl.edu 37 5 140052887 140052887 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140052887 140052887 G A SNP DND1 ENST00000542735 human ensembl 74_37 -1 known silent c.111 p.N37 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DND1 HGNC ENSG00000256453 175 0 0 99 24 19.5122 PCDHA1 0 genome.wustl.edu 37 5 140166202 140166202 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140166202 140166202 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.327 p.I109 0.444 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 171 0 0 124 33 21.0191 PCDHA2 0 genome.wustl.edu 37 5 140174554 140174554 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140174554 140174554 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.5 p.A2V 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 132 0 0 94 20 17.5439 PCDHA5 0 genome.wustl.edu 37 5 140202649 140202649 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140202649 140202649 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1289 p.G430D 0.990 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 PCDHA5 HGNC ENSG00000204965 191 0 0 136 33 19.5266 PCDHA7 0 genome.wustl.edu 37 5 140215225 140215225 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140215225 140215225 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.1257 p.S419 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 295 1 0.337838 165 62 27.3128 PCDHA7 0 genome.wustl.edu 37 5 140215333 140215333 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140215333 140215333 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.1365 p.F455 0.621 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 134 0 0 99 28 22.0472 PCDHAC2 0 genome.wustl.edu 37 5 140348144 140348144 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140348144 140348144 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.1793 p.A598V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 100 0 0 63 18 22.2222 PCDHB1 0 genome.wustl.edu 37 5 140431398 140431398 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140431398 140431398 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known nonsense c.343 p.Q115* 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 99 0 0 90 5 5.26316 PCDHB1 0 genome.wustl.edu 37 5 140431483 140431483 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140431483 140431483 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.428 p.P143L 0.315 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 86 0 0 50 10 16.6667 ENSG00000272154 0 genome.wustl.edu 37 5 140480141 140480141 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140480141 140480141 G A SNP ENSG00000272154 ENST00000607216 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005754.7 Clone_based_vega_gene ENSG00000272154 44 0 0 18 6 25 PCDHB5 0 genome.wustl.edu 37 5 140515561 140515561 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140515561 140515561 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.545 p.T182M 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 PCDHB5 HGNC ENSG00000113209 164 0 0 117 31 20.9459 PCDHB6 0 genome.wustl.edu 37 5 140531365 140531365 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140531365 140531365 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.1527 p.G509 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 232 0 0 135 26 16.1491 PCDHB8 0 genome.wustl.edu 37 5 140558115 140558115 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140558115 140558115 A G SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.500 p.N167S 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 429 0 0 363 25 6.4433 PCDHB8 0 genome.wustl.edu 37 5 140559035 140559035 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140559035 140559035 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1420 p.V474I 0.291 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 723 0 0 524 46 8.07018 PCDHB12 0 genome.wustl.edu 37 5 140588900 140588900 + Missense_Mutation SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140588900 140588900 G C SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.421 p.E141Q 0.895 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 205 0 0 125 25 16.6667 PCDHB12 0 genome.wustl.edu 37 5 140590328 140590328 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140590328 140590328 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1849 p.V617M 0.740 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 99 0 0 89 14 13.5922 PCDHB18 0 genome.wustl.edu 37 5 140615735 140615735 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140615735 140615735 G A SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 158 0 0 128 11 7.91367 PCDHGA1 0 genome.wustl.edu 37 5 140712592 140712592 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140712592 140712592 A G SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.2341 p.S781G 0.831 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 253 0 0 143 43 23.1183 PCDHGB1 0 genome.wustl.edu 37 5 140731932 140731932 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140731932 140731932 C T SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.2105 p.A702V 0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 310 0 0 178 60 25.2101 PCDHGA10 0 genome.wustl.edu 37 5 140794669 140794669 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140794669 140794669 A G SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.1927 p.K643E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 169 0 0 105 30 22.2222 PCDHGB8P 0 genome.wustl.edu 37 5 140807370 140807370 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140807370 140807370 G A SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCDHGB8P HGNC ENSG00000248449 24 0 0 12 4 25 PCDHGA12 0 genome.wustl.edu 37 5 140811073 140811073 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140811073 140811073 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.747 p.A249 0.003 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 160 0 0 85 24 22.0183 PCDHGA12 0 genome.wustl.edu 37 5 140812291 140812291 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140812291 140812291 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.1965 p.S655 0.007 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 118 0 0 98 21 17.6471 PRELID2 0 genome.wustl.edu 37 5 145199532 145199532 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 145199532 145199532 G A SNP PRELID2 ENST00000334744 human ensembl 74_37 -1 known silent c.183 p.N61 1.000 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors PRELID2 HGNC ENSG00000186314 198 1 0.502513 96 37 27.8195 DPYSL3 0 genome.wustl.edu 37 5 146788290 146788290 + Splice_Site SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 146788290 146788290 C T SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known splice_site c.690+1 e7+1 1.000 - - - no_errors DPYSL3 HGNC ENSG00000113657 147 0 0 74 22 22.9167 ANKH 0 genome.wustl.edu 37 5 14713763 14713763 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 14713763 14713763 C T SNP ANKH ENST00000284268 human ensembl 74_37 -1 known silent c.1155 p.A385 0.967 NULL pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 103 0 0 65 9 12.1622 FBXO38 0 genome.wustl.edu 37 5 147813209 147813209 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 147813209 147813209 A G SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known silent c.2766 p.L922 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 210 0 0 112 38 25.3333 ADRB2 0 genome.wustl.edu 37 5 148206896 148206896 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 148206896 148206896 C T SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known missense c.502 p.P168S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 265 0 0 159 54 25.3521 CSF1R 0 genome.wustl.edu 37 5 149433761 149433761 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 149433761 149433761 G A SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known silent c.2790 p.S930 0.048 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 43 0 0 24 7 22.5806 TCOF1 0 genome.wustl.edu 37 5 149771605 149771605 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 149771605 149771605 C A SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.3494 p.P1165H 0.002 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 144 0 0 77 5 6.09756 NDST1 0 genome.wustl.edu 37 5 149900697 149900697 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 149900697 149900697 G A SNP NDST1 ENST00000524161 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NDST1 HGNC ENSG00000070614 22 0 0 18 3 14.2857 TNIP1 0 genome.wustl.edu 37 5 150411961 150411961 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 150411961 150411961 G A SNP TNIP1 ENST00000521423 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors TNIP1 HGNC ENSG00000145901 33 0 0 26 5 16.129 FAT2 0 genome.wustl.edu 37 5 150931050 150931050 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 150931050 150931050 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.4274 p.G1425E 1.000 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 133 0 0 83 28 25.2252 FAT2 0 genome.wustl.edu 37 5 150946645 150946645 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 150946645 150946645 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.1848 p.S616 0.326 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 139 1 0.714286 71 29 29 FAM71B 0 genome.wustl.edu 37 5 156590335 156590335 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 156590335 156590335 G A SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.941 p.A314V 0.001 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 257 0 0 158 43 21.393 EBF1 0 genome.wustl.edu 37 5 158204430 158204430 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 158204430 158204430 T C SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1027 p.I343V 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 144 1 0.689655 89 22 19.8198 HMMR 0 genome.wustl.edu 37 5 162909718 162909718 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 162909718 162909718 G A SNP HMMR ENST00000393915 human ensembl 74_37 +1 known missense c.1456 p.A486T 0.114 NULL NULL - no_errors HMMR HGNC ENSG00000072571 115 0 0 59 18 23.3766 WWC1 0 genome.wustl.edu 37 5 167850695 167850695 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 167850695 167850695 C T SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known nonsense c.1432 p.Q478* 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 214 0 0 140 28 16.6667 LCP2 0 genome.wustl.edu 37 5 169697783 169697783 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 169697783 169697783 C T SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known missense c.463 p.A155T 0.094 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 101 0 0 57 19 25 EIF4E1B 0 genome.wustl.edu 37 5 176070674 176070674 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 176070674 176070674 C T SNP EIF4E1B ENST00000318682 human ensembl 74_37 +1 known missense c.235 p.R79W 1.000 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E1B HGNC ENSG00000175766 28 0 0 23 6 20.6897 NSD1 0 genome.wustl.edu 37 5 176673695 176673695 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 176673695 176673695 T C SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known silent c.4395 p.F1465 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,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 - no_errors NSD1 HGNC ENSG00000165671 85 0 0 54 5 8.47458 ADAMTS2 0 genome.wustl.edu 37 5 178555066 178555066 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 178555066 178555066 A G SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.2511 p.H837 0.940 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 146 0 0 112 8 6.66667 MGAT1 0 genome.wustl.edu 37 5 180219105 180219105 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 180219105 180219105 G A SNP MGAT1 ENST00000307826 human ensembl 74_37 -1 known silent c.867 p.D289 0.340 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors MGAT1 HGNC ENSG00000131446 69 0 0 37 11 22.9167 CDH6 0 genome.wustl.edu 37 5 31267788 31267788 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 31267788 31267788 G A SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.208 p.D70N 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 112 0 0 68 21 23.5955 PDZD2 0 genome.wustl.edu 37 5 32061224 32061224 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 32061224 32061224 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.2435 p.R812Q 1.000 superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 64 0 0 39 13 25 SLC45A2 0 genome.wustl.edu 37 5 33963963 33963963 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 33963963 33963963 G T SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known missense c.721 p.P241T 0.982 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 173 0 0 92 31 25.2033 IRX1 0 genome.wustl.edu 37 5 3599758 3599758 + Missense_Mutation SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 3599758 3599758 G C SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.696 p.K232N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 65 0 0 30 11 26.8293 PARP8 0 genome.wustl.edu 37 5 50090845 50090845 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 50090845 50090845 G A SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.1022 p.G341D 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 144 0 0 90 36 28.5714 ADAMTS16 0 genome.wustl.edu 37 5 5306831 5306831 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 5306831 5306831 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.3401 p.P1134L 1.000 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 25 0 0 16 7 30.4348 CDC20B 0 genome.wustl.edu 37 5 54423154 54423154 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 54423154 54423154 C T SNP CDC20B ENST00000296733 human ensembl 74_37 -1 known missense c.920 p.R307Q 0.982 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 CDC20B HGNC ENSG00000164287 219 0 0 124 25 16.7785 RAB3C 0 genome.wustl.edu 37 5 58120900 58120900 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 58120900 58120900 C T SNP RAB3C ENST00000282878 human ensembl 74_37 +1 known missense c.407 p.A136V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3C HGNC ENSG00000152932 144 0 0 73 18 19.7802 ERBB2IP 0 genome.wustl.edu 37 5 65319175 65319175 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 65319175 65319175 C A SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.655 p.L219M 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 225 0 0 121 17 12.3188 CCDC125 0 genome.wustl.edu 37 5 68590716 68590716 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 68590716 68590716 G A SNP CCDC125 ENST00000396496 human ensembl 74_37 -1 known silent c.828 p.L276 0.935 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 237 0 0 129 44 25.4335 GTF2H2C 0 genome.wustl.edu 37 5 68875669 68875669 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 68875669 68875669 T C SNP GTF2H2C ENST00000380729 human ensembl 74_37 +1 known silent c.735 p.S245 0.997 pfam_Ssl1-like,pirsf_TFIIH_SSL1/p44 pfam_Ssl1-like,pfam_TFIIH_C1-like_dom,smart_VWF_A,pirsf_TFIIH_SSL1/p44,pfscan_VWF_A,tigrfam_TFIIH_SSL1/p44 - no_errors GTF2H2C HGNC ENSG00000183474 542 0 0 324 76 19 CARTPT 0 genome.wustl.edu 37 5 71015123 71015123 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 71015123 71015123 G A SNP CARTPT ENST00000296777 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 pfam_CART pfam_CART,superfamily_CART - no_errors CARTPT HGNC ENSG00000164326 148 0 0 103 18 14.876 ZNF366 0 genome.wustl.edu 37 5 71756924 71756924 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 71756924 71756924 C T SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.400 p.V134M 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 355 1 0.280899 191 49 20.4167 EDIL3 0 genome.wustl.edu 37 5 83476311 83476311 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 83476311 83476311 A G SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known silent c.255 p.N85 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 51 0 0 30 4 11.7647 ZDHHC11 0 genome.wustl.edu 37 5 840720 840720 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 840720 840720 G A SNP ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known missense c.674 p.P225L 0.018 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 792 0 0 522 71 11.973 CETN3 0 genome.wustl.edu 37 5 89695208 89695208 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 89695208 89695208 T C SNP CETN3 ENST00000283122 human ensembl 74_37 -1 known missense c.427 p.I143V 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 141 0 0 70 10 12.5 MBLAC2 0 genome.wustl.edu 37 5 89757254 89757254 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 89757254 89757254 G A SNP MBLAC2 ENST00000316610 human ensembl 74_37 -1 known silent c.570 p.V190 0.066 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC2 HGNC ENSG00000176055 135 0 0 82 20 19.6078 SEMA5A 0 genome.wustl.edu 37 5 9154620 9154620 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 9154620 9154620 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.1461 p.C487 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold 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 SEMA5A HGNC ENSG00000112902 92 0 0 70 18 20.4545 SPATA9 0 genome.wustl.edu 37 5 94994442 94994442 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 94994442 94994442 G A SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known missense c.650 p.P217L 0.263 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 82 0 0 53 13 19.697 LNPEP 0 genome.wustl.edu 37 5 96328734 96328734 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 96328734 96328734 G A SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.1147 p.V383I 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 174 0 0 101 24 19.2 ASCC3 0 genome.wustl.edu 37 6 101053555 101053555 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 101053555 101053555 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.5066 p.R1689H 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 58 0 0 51 8 13.5593 WASF1 0 genome.wustl.edu 37 6 110423044 110423044 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 110423044 110423044 C T SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known silent c.1269 p.L423 0.999 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 140 0 0 97 43 30.7143 KIAA1919 0 genome.wustl.edu 37 6 111583579 111583579 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 111583579 111583579 T C SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known silent c.147 p.S49 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 489 2 0.407332 293 182 38.3158 ZUFSP 0 genome.wustl.edu 37 6 116966982 116966982 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 116966982 116966982 T C SNP ZUFSP ENST00000368576 human ensembl 74_37 -1 known missense c.1584 p.I528M 0.002 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 267 0 0 152 79 34.1991 FAM184A 0 genome.wustl.edu 37 6 119297156 119297156 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 119297156 119297156 G A SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.2509 p.R837W 0.995 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 109 0 0 82 10 10.8696 LAMA2 0 genome.wustl.edu 37 6 129663524 129663524 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 129663524 129663524 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known nonsense c.4348 p.R1450* 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 200 0 0 119 23 16.1972 TAAR6 0 genome.wustl.edu 37 6 132891518 132891518 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 132891518 132891518 G T SNP TAAR6 ENST00000275198 human ensembl 74_37 +1 known missense c.58 p.G20W 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR6 HGNC ENSG00000146383 134 0 0 100 19 15.9664 FUCA2 0 genome.wustl.edu 37 6 143825243 143825243 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 143825243 143825243 A G SNP FUCA2 ENST00000002165 human ensembl 74_37 -1 known missense c.559 p.F187L 1.000 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 151 1 0.657895 119 24 16.7832 GRM1 0 genome.wustl.edu 37 6 146720745 146720745 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 146720745 146720745 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2570 p.R857H 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 76 0 0 51 9 15 SYNE1 0 genome.wustl.edu 37 6 152777037 152777037 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 152777037 152777037 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.2711 p.I904T 0.012 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 111 0 0 56 31 35.6322 TIAM2 0 genome.wustl.edu 37 6 155450812 155450812 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 155450812 155450812 C T SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.455 p.P152L 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 120 0 0 68 25 26.8817 ARID1B 0 genome.wustl.edu 37 6 157522469 157522469 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 157522469 157522469 C T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known nonsense c.4861 p.Q1621* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 296 0 0 193 87 31.0714 SYNJ2 0 genome.wustl.edu 37 6 158483059 158483059 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 158483059 158483059 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.990 p.T330 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 506 0 0 333 169 33.6653 FNDC1 0 genome.wustl.edu 37 6 159653370 159653370 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 159653370 159653370 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.1826 p.R609H 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 40 0 0 32 4 11.1111 SLC22A2 0 genome.wustl.edu 37 6 160679392 160679392 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 160679392 160679392 G A SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known missense c.398 p.S133L 1.000 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 181 0 0 155 34 17.9894 AGPAT4 0 genome.wustl.edu 37 6 161574397 161574397 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 161574397 161574397 C T SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known silent c.645 p.V215 1.000 pfam_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 21 0 0 12 6 33.3333 HIST1H2AA 0 genome.wustl.edu 37 6 25726410 25726410 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 25726410 25726410 G A SNP HIST1H2AA ENST00000297012 human ensembl 74_37 -1 known silent c.346 p.L116 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AA HGNC ENSG00000164508 437 0 0 329 69 17.3367 BTN2A1 0 genome.wustl.edu 37 6 26459819 26459819 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 26459819 26459819 C T SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known missense c.193 p.R65W 0.999 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 105 0 0 112 8 6.66667 HIST1H4I 0 genome.wustl.edu 37 6 27107305 27107305 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 27107305 27107305 A G SNP HIST1H4I ENST00000354348 human ensembl 74_37 +1 known missense c.218 p.Y73C 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4I HGNC ENSG00000198339 135 0 0 115 17 12.8788 ZNF165 0 genome.wustl.edu 37 6 28057166 28057166 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 28057166 28057166 G T SNP ZNF165 ENST00000377325 human ensembl 74_37 +1 known missense c.1376 p.S459I 0.059 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF165 HGNC ENSG00000197279 106 0 0 58 29 33.3333 RNF39 0 genome.wustl.edu 37 6 30043318 30043318 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 30043318 30043318 C T SNP RNF39 ENST00000244360 human ensembl 74_37 -1 known silent c.249 p.E83 1.000 NULL 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 RNF39 HGNC ENSG00000204618 19 0 0 13 6 31.5789 NQO2 0 genome.wustl.edu 37 6 3012850 3012850 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 3012850 3012850 C T SNP NQO2 ENST00000338130 human ensembl 74_37 +1 known missense c.245 p.A82V 0.001 pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like - no_errors NQO2 HGNC ENSG00000124588 103 0 0 73 37 33.6364 DPCR1 0 genome.wustl.edu 37 6 30919763 30919763 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 30919763 30919763 G A SNP DPCR1 ENST00000304311 human ensembl 74_37 +1 known silent c.48 p.T16 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 142 0 0 94 20 17.5439 POU5F1 0 genome.wustl.edu 37 6 31132537 31132537 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 31132537 31132537 T C SNP POU5F1 ENST00000259915 human ensembl 74_37 -1 known silent c.924 p.G308 0.576 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1 HGNC ENSG00000204531 23 0 0 22 6 21.4286 MICA 0 genome.wustl.edu 37 6 31378554 31378554 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 31378554 31378554 A G SNP MICA ENST00000449934 human ensembl 74_37 +1 known missense c.305 p.H102R 0.000 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 MICA HGNC ENSG00000204520 18 0 0 17 2 10.5263 LTA 0 genome.wustl.edu 37 6 31541350 31541350 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 31541350 31541350 G A SNP LTA ENST00000418386 human ensembl 74_37 +1 known silent c.498 p.S166 0.056 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_beta,prints_TNF pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_beta,prints_TNF - no_errors LTA HGNC ENSG00000226979 413 2 0.481928 251 140 35.8056 TUBB2A 0 genome.wustl.edu 37 6 3154797 3154797 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 3154797 3154797 C T SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known missense c.638 p.R213H 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 173 0 0 135 31 18.6747 C6orf47 0 genome.wustl.edu 37 6 31627258 31627258 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 31627258 31627258 C T SNP C6orf47 ENST00000375911 human ensembl 74_37 -1 known missense c.467 p.G156D 1.000 NULL NULL - no_errors C6orf47 HGNC ENSG00000204439 181 0 0 150 35 18.9189 DDAH2 0 genome.wustl.edu 37 6 31696024 31696024 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 31696024 31696024 G A SNP DDAH2 ENST00000375787 human ensembl 74_37 -1 known missense c.517 p.R173C 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 94 0 0 52 18 25.7143 SKIV2L 0 genome.wustl.edu 37 6 31936718 31936718 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 31936718 31936718 T C SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known missense c.3251 p.M1084T 1.000 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 116 0 0 88 22 20 C4B 0 genome.wustl.edu 37 6 31997538 31997538 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 31997538 31997538 G A SNP C4B ENST00000435363 human ensembl 74_37 +1 known missense c.3872 p.R1291H 0.003 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4B HGNC ENSG00000224389 162 0 0 117 13 10 TNXB 0 genome.wustl.edu 37 6 32023661 32023661 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 32023661 32023661 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8434 p.R2812C 0.908 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 102 0 0 80 14 14.8936 RING1 0 genome.wustl.edu 37 6 33178996 33178996 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 33178996 33178996 G A SNP RING1 ENST00000374656 human ensembl 74_37 +1 known missense c.517 p.E173K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 360 0 0 279 46 14.1538 SYNGAP1 0 genome.wustl.edu 37 6 33411215 33411215 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 33411215 33411215 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.2886 p.H962 0.995 pfam_DUF3498 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 SYNGAP1 HGNC ENSG00000197283 366 1 0.27248 299 57 16.0112 SYNGAP1 0 genome.wustl.edu 37 6 33411218 33411218 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 33411218 33411218 T C SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.2889 p.H963 1.000 pfam_DUF3498 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 SYNGAP1 HGNC ENSG00000197283 372 0 0 299 57 16.0112 HMGA1 0 genome.wustl.edu 37 6 34208540 34208540 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 34208540 34208540 C T SNP HMGA1 ENST00000478214 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors HMGA1 HGNC ENSG00000137309 58 0 0 41 12 22.6415 DUSP22 0 genome.wustl.edu 37 6 348224 348224 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 348224 348224 G A SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.385 p.V129M 0.946 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,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 291 0 0 258 20 7.19424 UHRF1BP1 0 genome.wustl.edu 37 6 34825969 34825969 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 34825969 34825969 G A SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known silent c.1836 p.A612 0.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 169 1 0.588235 121 50 29.2398 CLPS 0 genome.wustl.edu 37 6 35763018 35763018 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 35763018 35763018 G A SNP CLPS ENST00000259938 human ensembl 74_37 -1 known missense c.244 p.R82C 0.989 pfam_Colipase_C,smart_Colipase,prints_Colipase pfam_Colipase_C,pfam_Colipase_N,smart_Colipase,prints_Colipase - no_errors CLPS HGNC ENSG00000137392 64 0 0 36 19 34.5455 PPIL1 0 genome.wustl.edu 37 6 36823635 36823635 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 36823635 36823635 C T SNP PPIL1 ENST00000373699 human ensembl 74_37 -1 known missense c.455 p.R152H 0.999 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL1 HGNC ENSG00000137168 185 0 0 111 48 30.1887 DNAH8 0 genome.wustl.edu 37 6 38702284 38702284 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 38702284 38702284 G A SNP DNAH8 ENST00000449981 human ensembl 74_37 +1 known silent c.645 p.G215 0.675 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 137 1 0.724638 102 19 15.7025 DNAH8 0 genome.wustl.edu 37 6 38941437 38941437 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 38941437 38941437 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.11875 p.G3959C 1.000 pfam_Dynein_heavy_dom 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 76 0 0 44 8 15.3846 DAAM2 0 genome.wustl.edu 37 6 39828752 39828752 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 39828752 39828752 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.217 p.P73S 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 43 0 0 18 5 21.7391 DAAM2 0 genome.wustl.edu 37 6 39856508 39856508 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 39856508 39856508 A T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.2114 p.Q705L 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 63 0 0 49 18 26.8657 TREML2 0 genome.wustl.edu 37 6 41162312 41162312 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 41162312 41162312 G A SNP TREML2 ENST00000483722 human ensembl 74_37 -1 known silent c.636 p.T212 0.003 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors TREML2 HGNC ENSG00000112195 61 0 0 46 15 24.5902 TREML3P 0 genome.wustl.edu 37 6 41184896 41184896 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 41184896 41184896 C T SNP TREML3P ENST00000564680 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TREML3P HGNC ENSG00000184106 190 0 0 134 32 19.2771 C6orf201 0 genome.wustl.edu 37 6 4130506 4130506 + RNA SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 4130506 4130506 A G SNP C6orf201 ENST00000496987 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C6orf201 HGNC ENSG00000185689 50 0 0 45 14 23.7288 KLHDC3 0 genome.wustl.edu 37 6 42986253 42986253 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 42986253 42986253 C A SNP KLHDC3 ENST00000326974 human ensembl 74_37 +1 known missense c.692 p.P231Q 0.928 pfam_Kelch_2,pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 231 0 0 188 33 14.9321 PTK7 0 genome.wustl.edu 37 6 43110015 43110015 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 43110015 43110015 G A SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known silent c.2025 p.T675 0.006 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-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_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 104 0 0 61 9 12.8571 CUL9 0 genome.wustl.edu 37 6 43152098 43152098 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 43152098 43152098 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.50 p.R17Q 0.885 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 34 0 0 24 11 31.4286 TDRD6 0 genome.wustl.edu 37 6 46657163 46657163 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 46657163 46657163 G A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.1298 p.R433H 0.072 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 142 0 0 91 45 33.0882 TDRD6 0 genome.wustl.edu 37 6 46657579 46657579 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 46657579 46657579 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known nonsense c.1714 p.R572* 0.997 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 364 0 0 230 82 26.2821 PKHD1 0 genome.wustl.edu 37 6 51890007 51890007 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 51890007 51890007 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.4601 p.S1534N 0.245 pfam_IPT,superfamily_Ig_E-set pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 117 0 0 89 11 11 GCM1 0 genome.wustl.edu 37 6 52993662 52993662 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 52993662 52993662 T C SNP GCM1 ENST00000259803 human ensembl 74_37 -1 known missense c.653 p.Y218C 0.447 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 180 0 0 120 26 17.8082 TINAG 0 genome.wustl.edu 37 6 54208091 54208091 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 54208091 54208091 C T SNP TINAG ENST00000259782 human ensembl 74_37 +1 known missense c.692 p.T231I 0.998 smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 113 0 0 90 20 18.1818 BMP5 0 genome.wustl.edu 37 6 55620357 55620357 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 55620357 55620357 C T SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known missense c.1339 p.V447I 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 95 0 0 53 19 26.3889 COL21A1 0 genome.wustl.edu 37 6 55939064 55939064 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 55939064 55939064 C T SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.1931 p.G644D 0.999 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 167 0 0 91 39 30 RREB1 0 genome.wustl.edu 37 6 7182150 7182150 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 7182150 7182150 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.6 p.T2 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 407 0 0 336 61 15.3652 COL12A1 0 genome.wustl.edu 37 6 75898209 75898209 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 75898209 75898209 G T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.866 p.S289Y 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 230 1 0.4329 118 54 31.3953 HTR1B 0 genome.wustl.edu 37 6 78172363 78172363 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 78172363 78172363 C T SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known missense c.758 p.R253Q 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 174 0 0 167 31 15.6566 TXNDC5 0 genome.wustl.edu 37 6 7889011 7889011 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 7889011 7889011 G A SNP TXNDC5 ENST00000379757 human ensembl 74_37 -1 known missense c.890 p.T297I 0.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 330 0 0 249 46 15.5932 DOPEY1 0 genome.wustl.edu 37 6 83839167 83839167 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 83839167 83839167 C T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.2281 p.P761S 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 125 0 0 76 15 16.4835 PM20D2 0 genome.wustl.edu 37 6 89871861 89871861 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 89871861 89871861 C T SNP PM20D2 ENST00000275072 human ensembl 74_37 +1 known missense c.1190 p.T397M 0.591 pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 250 0 0 122 72 37.1134 ZAN 0 genome.wustl.edu 37 7 100350276 100350276 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 100350276 100350276 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.2548 p.P850S 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 159 0 0 129 21 14 ACHE 0 genome.wustl.edu 37 7 100488914 100488914 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 100488914 100488914 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known silent c.1599 p.P533 0.019 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 106 0 0 101 6 5.60748 AP1S1 0 genome.wustl.edu 37 7 100799894 100799894 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 100799894 100799894 T G SNP AP1S1 ENST00000337619 human ensembl 74_37 +1 known missense c.23 p.F8C 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 25 0 0 11 8 42.1053 PLOD3 0 genome.wustl.edu 37 7 100853710 100853710 + Missense_Mutation SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 100853710 100853710 G C SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.1516 p.L506V 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 48 0 0 42 4 8.69565 CLDN15 0 genome.wustl.edu 37 7 100880766 100880766 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 100880766 100880766 T C SNP CLDN15 ENST00000308344 human ensembl 74_37 -1 known missense c.97 p.T33A 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin15 - no_errors CLDN15 HGNC ENSG00000106404 43 0 0 50 4 7.40741 FBXL13 0 genome.wustl.edu 37 7 102518012 102518012 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 102518012 102518012 G A SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known nonsense c.1537 p.R513* 0.998 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 69 0 0 38 32 45.7143 SYPL1 0 genome.wustl.edu 37 7 105739652 105739652 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 105739652 105739652 G A SNP SYPL1 ENST00000011473 human ensembl 74_37 -1 known missense c.200 p.A67V 0.000 pfam_Marvel,prints_Synaptophysin/porin pfam_Marvel,prints_Synaptophysin/porin - no_errors SYPL1 HGNC ENSG00000008282 154 0 0 108 24 18.1818 PIK3CG 0 genome.wustl.edu 37 7 106509611 106509611 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 106509611 106509611 C T SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known silent c.1605 p.T535 0.002 superfamily_ARM-type_fold pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 181 0 0 108 50 31.6456 COG5 0 genome.wustl.edu 37 7 106871061 106871061 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 106871061 106871061 T C SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.2260 p.R754G 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 242 0 0 212 22 9.40171 GPR146 0 genome.wustl.edu 37 7 1098028 1098028 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 1098028 1098028 C T SNP GPR146 ENST00000297468 human ensembl 74_37 +1 known missense c.877 p.P293S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR146 HGNC ENSG00000164849 124 0 0 115 15 11.5385 LRRN3 0 genome.wustl.edu 37 7 110763732 110763732 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 110763732 110763732 A G SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.904 p.S302G 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,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 LRRN3 HGNC ENSG00000173114 177 0 0 100 56 35.8974 LRRN3 0 genome.wustl.edu 37 7 110764048 110764048 + Missense_Mutation SNP T T A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 110764048 110764048 T A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1220 p.V407D 1.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,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 LRRN3 HGNC ENSG00000173114 155 0 0 87 39 30.9524 PTPRZ1 0 genome.wustl.edu 37 7 121653374 121653374 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 121653374 121653374 G A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.4274 p.G1425D 0.956 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 PTPRZ1 HGNC ENSG00000106278 101 0 0 48 30 38.4615 ZNF800 0 genome.wustl.edu 37 7 127013401 127013401 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 127013401 127013401 A G SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known silent c.1989 p.L663 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 91 0 0 56 36 39.1304 ZNF800 0 genome.wustl.edu 37 7 127014560 127014560 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 127014560 127014560 C T SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known missense c.830 p.R277H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 227 0 0 129 59 31.383 FSCN3 0 genome.wustl.edu 37 7 127236057 127236057 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 127236057 127236057 G A SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.841 p.D281N 0.991 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 62 0 0 38 26 40.625 FAM71F1 0 genome.wustl.edu 37 7 128356976 128356976 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 128356976 128356976 C A SNP FAM71F1 ENST00000315184 human ensembl 74_37 +1 known missense c.359 p.A120D 0.994 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 57 0 0 32 18 36 AHCYL2 0 genome.wustl.edu 37 7 129062714 129062714 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 129062714 129062714 C T SNP AHCYL2 ENST00000325006 human ensembl 74_37 +1 known nonsense c.1495 p.R499* 1.000 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 96 0 0 94 16 14.5455 CPA4 0 genome.wustl.edu 37 7 129946724 129946724 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 129946724 129946724 A G SNP CPA4 ENST00000222482 human ensembl 74_37 +1 known missense c.689 p.Y230C 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 66 0 0 65 5 7.14286 CPA1 0 genome.wustl.edu 37 7 130021652 130021652 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 130021652 130021652 G A SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.329 p.R110Q 0.000 superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 61 0 0 44 17 27.8689 CPA1 0 genome.wustl.edu 37 7 130025028 130025028 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 130025028 130025028 G A SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.829 p.G277S 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 101 0 0 85 19 18.2692 MKLN1 0 genome.wustl.edu 37 7 131172554 131172554 + RNA SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 131172554 131172554 C A SNP MKLN1 ENST00000498778 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MKLN1 HGNC ENSG00000128585 40 0 0 16 19 54.2857 PLXNA4 0 genome.wustl.edu 37 7 132174136 132174136 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 132174136 132174136 C A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1286 p.R429M 0.997 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 PLXNA4 HGNC ENSG00000221866 100 0 0 58 11 15.942 WDR91 0 genome.wustl.edu 37 7 134891882 134891882 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 134891882 134891882 A G SNP WDR91 ENST00000354475 human ensembl 74_37 -1 known missense c.584 p.L195P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 151 0 0 108 14 11.4754 STRA8 0 genome.wustl.edu 37 7 134925394 134925394 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 134925394 134925394 C T SNP STRA8 ENST00000275764 human ensembl 74_37 +1 known nonsense c.184 p.R62* 0.912 superfamily_bHLH_dom superfamily_bHLH_dom - no_errors STRA8 HGNC ENSG00000146857 168 0 0 143 29 16.8605 NUP205 0 genome.wustl.edu 37 7 135272360 135272360 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 135272360 135272360 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.1256 p.R419Q 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 90 0 0 66 9 12 ADCK2 0 genome.wustl.edu 37 7 140386947 140386947 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 140386947 140386947 G A SNP ADCK2 ENST00000072869 human ensembl 74_37 +1 known missense c.1463 p.R488Q 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK2 HGNC ENSG00000133597 38 0 0 30 2 6.25 KEL 0 genome.wustl.edu 37 7 142638384 142638384 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 142638384 142638384 T C SNP KEL ENST00000355265 human ensembl 74_37 -1 known silent c.2154 p.A718 0.014 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 123 0 0 92 43 31.8519 KEL 0 genome.wustl.edu 37 7 142643397 142643397 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 142643397 142643397 C T SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.1211 p.R404H 0.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 21 0 0 25 5 16.6667 CHPF2 0 genome.wustl.edu 37 7 150935717 150935717 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 150935717 150935717 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.2269 p.A757T 0.762 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 30 0 0 27 10 27.027 PRKAG2 0 genome.wustl.edu 37 7 151372719 151372719 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 151372719 151372719 G A SNP PRKAG2 ENST00000287878 human ensembl 74_37 -1 known silent c.471 p.S157 0.912 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG2 HGNC ENSG00000106617 153 0 0 124 29 18.9542 INTS1 0 genome.wustl.edu 37 7 1535894 1535894 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 1535894 1535894 A T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.1993 p.F665I 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 96 0 0 65 6 8.4507 PTPRN2 0 genome.wustl.edu 37 7 157959937 157959937 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 157959937 157959937 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.665 p.T222M 0.007 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 96 0 0 92 15 14.0187 AHR 0 genome.wustl.edu 37 7 17379837 17379837 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 17379837 17379837 G T SNP AHR ENST00000242057 human ensembl 74_37 +1 known missense c.2388 p.Q796H 0.005 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 - no_errors AHR HGNC ENSG00000106546 113 0 0 65 35 35 FERD3L 0 genome.wustl.edu 37 7 19184632 19184632 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 19184632 19184632 G A SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known silent c.354 p.N118 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 62 0 0 65 12 15.5844 EIF3B 0 genome.wustl.edu 37 7 2414230 2414230 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 2414230 2414230 G A SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known silent c.1878 p.A626 0.508 pfam_TIF_beta_prop-like,pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 217 1 0.458716 175 37 17.4528 CHST12 0 genome.wustl.edu 37 7 2473129 2473129 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 2473129 2473129 C T SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known silent c.855 p.P285 0.999 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 162 0 0 134 26 16.25 GNA12 0 genome.wustl.edu 37 7 2854018 2854018 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 2854018 2854018 C T SNP GNA12 ENST00000407904 human ensembl 74_37 -1 putative silent c.60 p.S20 0.000 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA12 HGNC ENSG00000146535 79 0 0 77 15 16.3043 CARD11 0 genome.wustl.edu 37 7 2962768 2962768 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 2962768 2962768 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.2140 p.L714 0.996 superfamily_PDZ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 85 0 0 62 23 27.0588 PLEKHA8 0 genome.wustl.edu 37 7 30113715 30113715 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 30113715 30113715 A G SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known silent c.1329 p.Q443 0.995 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 88 0 0 63 5 7.35294 NOD1 0 genome.wustl.edu 37 7 30491514 30491514 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 30491514 30491514 C T SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.1519 p.G507R 0.000 pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 105 0 0 89 19 17.5926 ANLN 0 genome.wustl.edu 37 7 36489380 36489380 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 36489380 36489380 G A SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.3185 p.R1062Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 122 0 0 58 37 38.9474 AOAH 0 genome.wustl.edu 37 7 36677512 36677512 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 36677512 36677512 G A SNP AOAH ENST00000258749 human ensembl 74_37 -1 known missense c.395 p.T132I 0.030 NULL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 70 0 0 41 11 21.1538 INHBA 0 genome.wustl.edu 37 7 41729462 41729462 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 41729462 41729462 C T SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.1067 p.S356N 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 116 0 0 84 59 41.2587 MRPS24 0 genome.wustl.edu 37 7 43906548 43906548 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 43906548 43906548 C T SNP MRPS24 ENST00000317534 human ensembl 74_37 -1 known missense c.254 p.R85Q 0.998 NULL NULL - no_errors MRPS24 HGNC ENSG00000062582 134 0 0 77 18 18.9474 AEBP1 0 genome.wustl.edu 37 7 44152488 44152488 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 44152488 44152488 A G SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.2549 p.K850R 0.997 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 205 0 0 155 32 17.1123 RADIL 0 genome.wustl.edu 37 7 4917262 4917262 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 4917262 4917262 G A SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.509 p.A170V 1.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 145 0 0 116 22 15.942 VWC2 0 genome.wustl.edu 37 7 49815437 49815437 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 49815437 49815437 G A SNP VWC2 ENST00000340652 human ensembl 74_37 +1 known missense c.406 p.A136T 0.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 8 0 0 1 2 66.6667 ZPBP 0 genome.wustl.edu 37 7 50022992 50022992 + Missense_Mutation SNP A A C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 50022992 50022992 A C SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known missense c.907 p.F303V 1.000 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 100 0 0 36 24 40 FIGNL1 0 genome.wustl.edu 37 7 50514362 50514362 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 50514362 50514362 A G SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known silent c.624 p.G208 0.443 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 250 0 0 141 86 37.8855 POM121L12 0 genome.wustl.edu 37 7 53104115 53104115 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 53104115 53104115 G A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.751 p.A251T 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 116 0 0 90 38 29.6875 SLC29A4 0 genome.wustl.edu 37 7 5338627 5338627 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 5338627 5338627 A G SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known silent c.891 p.P297 0.072 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 63 0 0 48 24 33.3333 ZNF716 0 genome.wustl.edu 37 7 57528978 57528978 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 57528978 57528978 T C SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.811 p.C271R 0.841 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 ZNF716 HGNC ENSG00000182111 64 0 0 31 14 31.1111 CYTH3 0 genome.wustl.edu 37 7 6205435 6205435 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 6205435 6205435 C T SNP CYTH3 ENST00000350796 human ensembl 74_37 -1 known missense c.830 p.R277H 0.704 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 78 0 0 59 12 16.9014 POM121 0 genome.wustl.edu 37 7 72412589 72412589 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 72412589 72412589 C T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.2057 p.T686M 0.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 131 0 0 83 33 28.4483 BAZ1B 0 genome.wustl.edu 37 7 72857062 72857062 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 72857062 72857062 G A SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.4087 p.P1363S 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 98 0 0 57 22 27.8481 PCLO 0 genome.wustl.edu 37 7 82764703 82764703 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 82764703 82764703 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.2163 p.K721 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 100 0 0 39 30 43.4783 ABCB4 0 genome.wustl.edu 37 7 87038559 87038559 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 87038559 87038559 A G SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.3074 p.L1025P 0.994 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 119 0 0 71 19 21.1111 PEX1 0 genome.wustl.edu 37 7 92129019 92129019 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 92129019 92129019 T C SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known missense c.2717 p.K906R 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 184 0 0 140 20 12.5 CDK6 0 genome.wustl.edu 37 7 92355017 92355017 + Missense_Mutation SNP T T A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 92355017 92355017 T A SNP CDK6 ENST00000265734 human ensembl 74_37 -1 known missense c.460 p.T154S 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 CDK6 HGNC ENSG00000105810 213 0 0 163 19 10.4396 SAMD9 0 genome.wustl.edu 37 7 92732375 92732375 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 92732375 92732375 T C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known silent c.3036 p.L1012 0.093 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 137 0 0 110 15 12 LMTK2 0 genome.wustl.edu 37 7 97822305 97822305 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 97822305 97822305 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.2528 p.T843M 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 176 0 0 123 47 27.6471 BAIAP2L1 0 genome.wustl.edu 37 7 97946560 97946560 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 97946560 97946560 C T SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known missense c.457 p.A153T 0.995 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 350 1 0.2849 268 53 16.5109 ARPC1A 0 genome.wustl.edu 37 7 98957328 98957328 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 98957328 98957328 C T SNP ARPC1A ENST00000262942 human ensembl 74_37 +1 known missense c.950 p.T317M 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 85 0 0 55 17 23.6111 CYP3A43 0 genome.wustl.edu 37 7 99461224 99461224 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 99461224 99461224 C T SNP CYP3A43 ENST00000222382 human ensembl 74_37 +1 known nonsense c.1321 p.R441* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 134 0 0 114 15 11.6279 MCM7 0 genome.wustl.edu 37 7 99693747 99693747 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 99693747 99693747 C T SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known silent c.1245 p.T415 0.032 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_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,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 52 0 0 37 15 28.8462 SPDYE3 0 genome.wustl.edu 37 7 99914757 99914757 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 99914757 99914757 G A SNP SPDYE3 ENST00000332397 human ensembl 74_37 +1 known missense c.1325 p.R442H 0.015 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 251 0 0 228 43 15.8672 GRHL2 0 genome.wustl.edu 37 8 102589722 102589722 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 102589722 102589722 G A SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known silent c.978 p.T326 0.948 pfam_CP2 pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 62 0 0 64 4 5.88235 RIMS2 0 genome.wustl.edu 37 8 105001565 105001565 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 105001565 105001565 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2960 p.R987H 0.981 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 235 0 0 137 38 21.7143 DCSTAMP 0 genome.wustl.edu 37 8 105361024 105361024 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 105361024 105361024 A T SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.244 p.I82F 0.000 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 127 0 0 109 28 20.438 LRP12 0 genome.wustl.edu 37 8 105509656 105509656 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 105509656 105509656 C A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1067 p.C356F 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 212 1 0.469484 127 31 19.6203 LRP12 0 genome.wustl.edu 37 8 105509809 105509809 + Missense_Mutation SNP T T A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 105509809 105509809 T A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.914 p.N305I 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 99 0 0 81 17 17.3469 ZFPM2 0 genome.wustl.edu 37 8 106815407 106815407 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 106815407 106815407 C T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.3097 p.P1033S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 49 0 0 47 8 14.5455 TRPS1 0 genome.wustl.edu 37 8 116599521 116599521 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 116599521 116599521 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2407 p.R803C 0.999 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 642 1 0.155521 528 107 16.8504 COL14A1 0 genome.wustl.edu 37 8 121354657 121354657 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 121354657 121354657 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.4860 p.A1620 0.391 NULL pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 97 0 0 92 20 17.8571 MTBP 0 genome.wustl.edu 37 8 121466147 121466147 + Splice_Site SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 121466147 121466147 T C SNP MTBP ENST00000305949 human ensembl 74_37 +1 known splice_site c.484+2 e5+2 1.000 - - - no_errors MTBP HGNC ENSG00000172167 99 0 0 44 9 16.9811 FAM91A1 0 genome.wustl.edu 37 8 124799557 124799557 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 124799557 124799557 G A SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.1135 p.A379T 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 112 0 0 81 20 19.802 MTSS1 0 genome.wustl.edu 37 8 125740157 125740157 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 125740157 125740157 C A SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.40 p.G14C 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 49 0 0 44 5 10.2041 ASAP1 0 genome.wustl.edu 37 8 131072914 131072914 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 131072914 131072914 C T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.3103 p.A1035T 0.002 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 319 1 0.3125 300 54 15.2542 ASAP1 0 genome.wustl.edu 37 8 131370319 131370319 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 131370319 131370319 A G SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.130 p.S44P 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 36 0 0 37 12 24.4898 KCNQ3 0 genome.wustl.edu 37 8 133144483 133144483 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 133144483 133144483 T C SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.1828 p.T610A 0.998 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 76 0 0 68 13 16.0494 FAM135B 0 genome.wustl.edu 37 8 139189644 139189644 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 139189644 139189644 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1049 p.A350V 1.000 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 36 0 0 23 4 14.8148 COL22A1 0 genome.wustl.edu 37 8 139712355 139712355 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 139712355 139712355 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.2592 p.P864 0.005 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 50 0 0 34 6 15 AGO2 0 genome.wustl.edu 37 8 141570576 141570576 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 141570576 141570576 C T SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known silent c.552 p.A184 0.002 pfam_DUF1785,superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 118 0 0 75 19 20.2128 PTP4A3 0 genome.wustl.edu 37 8 142441117 142441117 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 142441117 142441117 G A SNP PTP4A3 ENST00000329397 human ensembl 74_37 +1 known silent c.495 p.T165 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A3 HGNC ENSG00000184489 113 0 0 107 26 19.5489 JRK 0 genome.wustl.edu 37 8 143747298 143747298 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 143747298 143747298 C T SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.930 - - - no_errors JRK HGNC ENSG00000234616 21 0 0 27 7 20.5882 SLURP1 0 genome.wustl.edu 37 8 143823232 143823232 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 143823232 143823232 G A SNP SLURP1 ENST00000246515 human ensembl 74_37 -1 known missense c.167 p.T56M 0.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors SLURP1 HGNC ENSG00000126233 88 0 0 52 10 16.129 RHPN1 0 genome.wustl.edu 37 8 144457822 144457822 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 144457822 144457822 G A SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known missense c.160 p.A54T 0.991 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 39 0 0 27 6 18.1818 ZC3H3 0 genome.wustl.edu 37 8 144620861 144620861 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 144620861 144620861 C T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.676 p.V226I 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 50 0 0 48 14 22.5806 SCRIB 0 genome.wustl.edu 37 8 144874253 144874253 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 144874253 144874253 C A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.4565 p.R1522M 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 29 0 0 18 6 25 EPPK1 0 genome.wustl.edu 37 8 144944997 144944997 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 144944997 144944997 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.2425 p.A809T 0.001 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 64 0 0 50 11 18.0328 EPPK1 0 genome.wustl.edu 37 8 144945237 144945237 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 144945237 144945237 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.2185 p.V729I 0.933 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 145 1 0.684932 143 24 14.3713 PARP10 0 genome.wustl.edu 37 8 145057230 145057230 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 145057230 145057230 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.2426 p.A809V 0.005 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 104 1 0.952381 83 18 17.8218 CPSF1 0 genome.wustl.edu 37 8 145624413 145624413 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 145624413 145624413 C T SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.1483 p.E495K 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 27 0 0 24 5 17.2414 MYOM2 0 genome.wustl.edu 37 8 2044088 2044088 + Silent SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 2044088 2044088 C A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.2127 p.T709 0.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 258 0 0 184 41 18.2222 GFRA2 0 genome.wustl.edu 37 8 21608373 21608373 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 21608373 21608373 C T SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known missense c.521 p.C174Y 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 94 0 0 79 11 12.2222 XPO7 0 genome.wustl.edu 37 8 21839264 21839264 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 21839264 21839264 A G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.1007 p.Y336C 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 161 0 0 115 27 19.0141 BMP1 0 genome.wustl.edu 37 8 22051620 22051620 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 22051620 22051620 C T SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known silent c.1230 p.S410 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 166 0 0 126 36 22.2222 BMP1 0 genome.wustl.edu 37 8 22052262 22052262 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 22052262 22052262 A G SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known missense c.1469 p.Y490C 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 76 0 0 65 17 20.7317 SORBS3 0 genome.wustl.edu 37 8 22418897 22418897 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 22418897 22418897 G A SNP SORBS3 ENST00000523402 human ensembl 74_37 +1 putative missense c.528 p.M176I 0.002 pfscan_Sorb pfam_Sorb,smart_Sorb,pfscan_Sorb - no_errors SORBS3 HGNC ENSG00000120896 73 0 0 68 9 11.6883 BIN3 0 genome.wustl.edu 37 8 22488003 22488003 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 22488003 22488003 C T SNP BIN3 ENST00000276416 human ensembl 74_37 -1 known silent c.249 p.T83 0.431 pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC ENSG00000147439 262 0 0 219 40 15.444 RHOBTB2 0 genome.wustl.edu 37 8 22862133 22862133 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 22862133 22862133 C T SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known silent c.186 p.C62 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 40 0 0 26 7 21.2121 RHOBTB2 0 genome.wustl.edu 37 8 22865598 22865598 + Missense_Mutation SNP C C G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 22865598 22865598 C G SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1594 p.P532A 0.975 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 183 0 0 118 28 19.1781 LOXL2 0 genome.wustl.edu 37 8 23191025 23191025 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 23191025 23191025 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known silent c.855 p.P285 0.978 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 201 0 0 148 27 15.4286 SLC25A37 0 genome.wustl.edu 37 8 23429231 23429231 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 23429231 23429231 G A SNP SLC25A37 ENST00000519973 human ensembl 74_37 +1 known missense c.880 p.G294S 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC ENSG00000147454 49 0 0 36 5 12.1951 ADAM7 0 genome.wustl.edu 37 8 24321458 24321458 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 24321458 24321458 G A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known silent c.297 p.R99 0.000 pfam_Peptidase_M12B_N 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 124 0 0 90 19 17.4312 EBF2 0 genome.wustl.edu 37 8 25708244 25708244 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 25708244 25708244 C T SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.1562 p.S521N 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 108 0 0 81 20 19.802 TRIM35 0 genome.wustl.edu 37 8 27145379 27145379 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 27145379 27145379 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known silent c.1170 p.H390 0.745 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 TRIM35 HGNC ENSG00000104228 61 0 0 38 8 17.3913 SCARA3 0 genome.wustl.edu 37 8 27507225 27507225 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 27507225 27507225 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known missense c.14 p.S5L 0.983 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 40 0 0 55 10 15.3846 SCARA3 0 genome.wustl.edu 37 8 27507232 27507232 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 27507232 27507232 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known silent c.21 p.G7 0.309 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 55 0 0 58 12 17.1429 CSMD1 0 genome.wustl.edu 37 8 2796120 2796120 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 2796120 2796120 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.10685 p.C3562F 1.000 NULL 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 23 0 0 19 6 24 CSMD1 0 genome.wustl.edu 37 8 2857552 2857552 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 2857552 2857552 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8134 p.R2712W 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 223 0 0 191 45 19.0678 MAK16 0 genome.wustl.edu 37 8 33354189 33354189 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 33354189 33354189 T C SNP MAK16 ENST00000360128 human ensembl 74_37 +1 known missense c.569 p.L190P 1.000 pfam_Mak16,pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 54 0 0 52 12 18.75 UNC5D 0 genome.wustl.edu 37 8 35624428 35624428 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 35624428 35624428 G A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.2322 p.P774 0.009 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 110 0 0 88 25 22.1239 ASH2L 0 genome.wustl.edu 37 8 37986420 37986420 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 37986420 37986420 C A SNP ASH2L ENST00000343823 human ensembl 74_37 +1 known missense c.1478 p.P493H 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ENSG00000129691 624 1 0.16 469 109 18.8581 LSM1 0 genome.wustl.edu 37 8 38027335 38027335 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 38027335 38027335 G A SNP LSM1 ENST00000311351 human ensembl 74_37 -1 known silent c.216 p.V72 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM1 HGNC ENSG00000175324 271 0 0 245 15 5.76923 CHRNA6 0 genome.wustl.edu 37 8 42611455 42611455 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 42611455 42611455 G A SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known missense c.887 p.T296I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 116 0 0 109 26 19.2593 MCM4 0 genome.wustl.edu 37 8 48878843 48878843 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 48878843 48878843 C T SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.929 p.A310V 0.891 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 99 0 0 88 16 15.3846 ST18 0 genome.wustl.edu 37 8 53079492 53079492 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 53079492 53079492 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1124 p.G375D 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 199 0 0 141 30 17.5439 RP1 0 genome.wustl.edu 37 8 55533959 55533959 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 55533959 55533959 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.433 p.A145T 0.009 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 143 0 0 108 20 15.625 RP1 0 genome.wustl.edu 37 8 55534032 55534032 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 55534032 55534032 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.506 p.A169V 0.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 222 1 0.44843 179 29 13.9423 TGS1 0 genome.wustl.edu 37 8 56698411 56698411 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 56698411 56698411 A G SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known silent c.300 p.P100 0.578 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 172 0 0 105 21 16.6667 CHD7 0 genome.wustl.edu 37 8 61655388 61655388 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 61655388 61655388 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.1397 p.S466L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 38 0 0 32 5 13.5135 ANGPT2 0 genome.wustl.edu 37 8 6372237 6372237 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 6372237 6372237 G A SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known silent c.993 p.G331 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 351 0 0 236 48 16.9014 CYP7B1 0 genome.wustl.edu 37 8 65528501 65528501 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 65528501 65528501 T C SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known silent c.597 p.K199 0.040 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 - no_errors CYP7B1 HGNC ENSG00000172817 96 0 0 51 11 17.7419 ADHFE1 0 genome.wustl.edu 37 8 67361171 67361171 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 67361171 67361171 C T SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known nonsense c.700 p.R234* 0.883 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 377 0 0 274 60 17.9641 PREX2 0 genome.wustl.edu 37 8 68956736 68956736 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 68956736 68956736 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.854 p.S285N 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 134 0 0 96 10 9.43396 SULF1 0 genome.wustl.edu 37 8 70541824 70541824 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 70541824 70541824 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.2194 p.R732W 0.970 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 191 0 0 131 19 12.6667 XKR9 0 genome.wustl.edu 37 8 71646272 71646272 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 71646272 71646272 G A SNP XKR9 ENST00000408926 human ensembl 74_37 +1 known nonsense c.735 p.W245* 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 107 0 0 61 7 10.2941 CRISPLD1 0 genome.wustl.edu 37 8 75898440 75898440 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 75898440 75898440 G A SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.218 p.R73Q 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 147 1 0.675676 129 20 13.4228 ZFHX4 0 genome.wustl.edu 37 8 77766151 77766151 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 77766151 77766151 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.6994 p.K2332E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 212 0 0 179 36 16.7442 PSKH2 0 genome.wustl.edu 37 8 87076335 87076335 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 87076335 87076335 C A SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known missense c.711 p.K237N 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 PSKH2 HGNC ENSG00000147613 164 1 0.606061 101 11 9.82143 DECR1 0 genome.wustl.edu 37 8 91013752 91013752 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 91013752 91013752 T C SNP DECR1 ENST00000220764 human ensembl 74_37 +1 known missense c.32 p.L11P 0.001 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC ENSG00000104325 49 0 0 40 5 11.1111 DECR1 0 genome.wustl.edu 37 8 91031391 91031391 + Silent SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 91031391 91031391 A T SNP DECR1 ENST00000220764 human ensembl 74_37 +1 known silent c.408 p.G136 0.704 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC ENSG00000104325 74 0 0 45 7 13.4615 RUNX1T1 0 genome.wustl.edu 37 8 93029539 93029539 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 93029539 93029539 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known silent c.174 p.T58 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 148 0 0 122 18 12.8571 CDH17 0 genome.wustl.edu 37 8 95188800 95188800 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 95188800 95188800 G A SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known silent c.393 p.Y131 0.890 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 200 0 0 150 40 21.0526 KIAA1429 0 genome.wustl.edu 37 8 95531575 95531575 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 95531575 95531575 A G SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known silent c.2151 p.G717 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 119 0 0 110 7 5.98291 INTS8 0 genome.wustl.edu 37 8 95888348 95888348 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 95888348 95888348 C T SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.2735 p.A912V 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 118 0 0 77 13 14.4444 CCNE2 0 genome.wustl.edu 37 8 95906149 95906149 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 95906149 95906149 C T SNP CCNE2 ENST00000519889 human ensembl 74_37 -1 known missense c.163 p.G55S 0.260 NULL NULL - no_errors CCNE2 HGNC ENSG00000175305 259 0 0 213 31 12.7049 NDUFAF6 0 genome.wustl.edu 37 8 96044227 96044227 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 96044227 96044227 C T SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known missense c.202 p.R68W 1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 152 0 0 107 26 19.5489 MATN2 0 genome.wustl.edu 37 8 99030335 99030335 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 99030335 99030335 C T SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.1810 p.R604C 0.739 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom 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 230 0 0 212 28 11.6667 OSR2 0 genome.wustl.edu 37 8 99961765 99961765 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 99961765 99961765 G A SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known silent c.948 p.T316 0.672 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 229 0 0 161 37 18.6869 COL15A1 0 genome.wustl.edu 37 9 101706316 101706316 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 101706316 101706316 G A SNP COL15A1 ENST00000467052 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors COL15A1 HGNC ENSG00000204291 66 0 0 44 8 15.3846 INVS 0 genome.wustl.edu 37 9 103008902 103008902 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 103008902 103008902 C T SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.911 p.T304M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 68 0 0 39 10 20.4082 MURC 0 genome.wustl.edu 37 9 103340555 103340555 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 103340555 103340555 G A SNP MURC ENST00000307584 human ensembl 74_37 +1 known missense c.130 p.V44M 0.910 NULL NULL - no_errors MURC HGNC ENSG00000170681 131 0 0 64 28 30.4348 RNF20 0 genome.wustl.edu 37 9 104324640 104324640 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 104324640 104324640 G A SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known missense c.2864 p.R955H 1.000 smart_Znf_RING,pfscan_Znf_RING superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 155 0 0 87 21 19.4444 GRIN3A 0 genome.wustl.edu 37 9 104449155 104449155 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 104449155 104449155 T C SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.1027 p.T343A 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 78 0 0 50 19 27.5362 ABCA1 0 genome.wustl.edu 37 9 107645430 107645430 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 107645430 107645430 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.311 p.R104H 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 93 0 0 68 15 18.0723 CDC26 0 genome.wustl.edu 37 9 116029676 116029676 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 116029676 116029676 C A SNP CDC26 ENST00000374206 human ensembl 74_37 -1 known missense c.125 p.S42I 1.000 pfam_APC_suCDC26 pfam_APC_suCDC26 - no_errors CDC26 HGNC ENSG00000176386 156 0 0 130 24 15.5844 FOXD4 0 genome.wustl.edu 37 9 116989 116989 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 116989 116989 G A SNP FOXD4 ENST00000382500 human ensembl 74_37 -1 known silent c.1131 p.C377 0.818 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 113 0 0 68 19 21.8391 TLR4 0 genome.wustl.edu 37 9 120474910 120474910 + Silent SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 120474910 120474910 T C SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known silent c.504 p.P168 0.001 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 183 0 0 109 28 20.438 CBWD1 0 genome.wustl.edu 37 9 121993 121993 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 121993 121993 T C SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known missense c.1049 p.D350G 0.515 pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C 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 154 0 0 68 17 20 CDK5RAP2 0 genome.wustl.edu 37 9 123220813 123220813 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 123220813 123220813 C T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.2290 p.A764T 0.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 139 0 0 68 21 23.5955 C5 0 genome.wustl.edu 37 9 123723809 123723809 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 123723809 123723809 A G SNP C5 ENST00000223642 human ensembl 74_37 -1 known silent c.4539 p.N1513 0.000 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 71 0 0 57 14 19.7183 OR1L6 0 genome.wustl.edu 37 9 125512575 125512575 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 125512575 125512575 A T SNP OR1L6 ENST00000373684 human ensembl 74_37 +1 known missense c.557 p.C186F 0.608 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 OR1L6 HGNC ENSG00000171459 325 0 0 186 53 22.1757 ZBTB26 0 genome.wustl.edu 37 9 125681387 125681387 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 125681387 125681387 G A SNP ZBTB26 ENST00000373654 human ensembl 74_37 -1 known missense c.827 p.P276L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB26 HGNC ENSG00000171448 242 0 0 143 35 19.6629 SCAI 0 genome.wustl.edu 37 9 127733710 127733710 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 127733710 127733710 C T SNP SCAI ENST00000373549 human ensembl 74_37 -1 known missense c.1682 p.R561H 1.000 pfam_DUF3550,pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 72 0 0 35 6 14.6341 MVB12B 0 genome.wustl.edu 37 9 129243571 129243571 + RNA SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 129243571 129243571 C T SNP MVB12B ENST00000485886 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MVB12B HGNC ENSG00000196814 158 0 0 101 35 25.7353 TTC16 0 genome.wustl.edu 37 9 130486410 130486410 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 130486410 130486410 A G SNP TTC16 ENST00000373289 human ensembl 74_37 +1 known missense c.884 p.Y295C 0.996 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 50 0 0 35 8 18.6047 PTGES2 0 genome.wustl.edu 37 9 130884666 130884666 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 130884666 130884666 C T SNP PTGES2 ENST00000338961 human ensembl 74_37 -1 known missense c.980 p.G327D 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors PTGES2 HGNC ENSG00000148334 169 0 0 95 23 19.4915 GOLGA2 0 genome.wustl.edu 37 9 131022375 131022375 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 131022375 131022375 G A SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known silent c.1771 p.L591 1.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 140 0 0 94 21 18.2609 ZER1 0 genome.wustl.edu 37 9 131495728 131495728 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 131495728 131495728 C T SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known silent c.2220 p.R740 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 47 0 0 30 8 21.0526 CCBL1 0 genome.wustl.edu 37 9 131604977 131604977 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 131604977 131604977 C T SNP CCBL1 ENST00000436267 human ensembl 74_37 -1 known missense c.439 p.A147T 0.975 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL1 HGNC ENSG00000171097 99 0 0 53 18 25.3521 PPP2R4 0 genome.wustl.edu 37 9 131898802 131898802 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 131898802 131898802 G A SNP PPP2R4 ENST00000452489 human ensembl 74_37 +1 known missense c.718 p.G240S 1.000 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 497 1 0.200803 295 101 25.5051 PRRC2B 0 genome.wustl.edu 37 9 134350275 134350275 + Missense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 134350275 134350275 C A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.2759 p.P920H 0.046 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 11 0 0 8 5 38.4615 RAPGEF1 0 genome.wustl.edu 37 9 134455650 134455650 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 134455650 134455650 G A SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.3137 p.A1046V 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 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 53 0 0 40 12 23.0769 SETX 0 genome.wustl.edu 37 9 135176111 135176111 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 135176111 135176111 T C SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.5454 p.I1818M 0.001 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 185 0 0 123 29 19.0789 RALGDS 0 genome.wustl.edu 37 9 135978272 135978272 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 135978272 135978272 C T SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.2020 p.A674T 0.996 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,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 RALGDS HGNC ENSG00000160271 59 0 0 35 11 23.913 LCN9 0 genome.wustl.edu 37 9 138557130 138557130 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 138557130 138557130 A G SNP LCN9 ENST00000277526 human ensembl 74_37 +1 known missense c.347 p.Y116C 0.824 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Blactoglobulin pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin - no_errors LCN9 HGNC ENSG00000148386 13 0 0 5 2 28.5714 KCNT1 0 genome.wustl.edu 37 9 138667192 138667192 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 138667192 138667192 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.2280 p.I760 0.988 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 149 0 0 84 27 24.3243 C9orf69 0 genome.wustl.edu 37 9 139008560 139008560 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 139008560 139008560 T C SNP C9orf69 ENST00000557985 human ensembl 74_37 -1 known missense c.187 p.S63G 1.000 NULL NULL - no_errors C9orf69 HGNC ENSG00000238227 94 0 0 64 14 17.9487 LCN6 0 genome.wustl.edu 37 9 139639195 139639195 + Splice_Site SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 139639195 139639195 T C SNP LCN6 ENST00000341206 human ensembl 74_37 -1 known splice_site c.413-2 e5-2 0.739 - - - no_errors LCN6 HGNC ENSG00000267206 33 0 0 20 4 16.6667 KIAA1984 0 genome.wustl.edu 37 9 139694927 139694927 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 139694927 139694927 G A SNP KIAA1984 ENST00000338005 human ensembl 74_37 +1 known silent c.525 p.L175 0.958 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 31 0 0 24 7 22.5806 ABCA2 0 genome.wustl.edu 37 9 139905558 139905558 + Splice_Site SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 139905558 139905558 C A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known splice_site c.5924-1 e39-1 1.000 - - - no_errors ABCA2 HGNC ENSG00000107331 75 0 0 53 18 25.3521 PNPLA7 0 genome.wustl.edu 37 9 140358954 140358954 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 140358954 140358954 G A SNP PNPLA7 ENST00000487228 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PNPLA7 HGNC ENSG00000130653 116 0 0 69 14 16.8675 CACNA1B 0 genome.wustl.edu 37 9 140880954 140880954 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 140880954 140880954 T C SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.1862 p.I621T 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 47 0 0 35 16 31.3725 CACNA1B 0 genome.wustl.edu 37 9 140968005 140968005 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 140968005 140968005 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.4743 p.R1581 0.938 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 166 0 0 95 21 18.1034 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 117 0 0 87 13 13 BNC2 0 genome.wustl.edu 37 9 16436812 16436812 + Nonsense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 16436812 16436812 G T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known nonsense c.1380 p.Y460* 0.988 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 166 0 0 61 24 28.2353 CDKN2A 0 genome.wustl.edu 37 9 21994370 21994370 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 21994370 21994370 G A SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known silent c.84 p.G28 0.122 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 23 0 0 22 6 21.4286 KCNV2 0 genome.wustl.edu 37 9 2718573 2718573 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 2718573 2718573 G A SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known silent c.834 p.A278 0.460 prints_K_chnl,prints_K_chnl_volt-dep_Kv9 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 40 0 0 26 10 27.7778 ALDH1B1 0 genome.wustl.edu 37 9 38395863 38395863 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 38395863 38395863 T C SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known missense c.118 p.F40L 0.997 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 174 0 0 134 20 12.987 JAK2 0 genome.wustl.edu 37 9 5054649 5054649 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 5054649 5054649 G A SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.701 p.R234H 1.000 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 213 0 0 102 26 20.3125 GLDC 0 genome.wustl.edu 37 9 6553433 6553433 + Nonsense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 6553433 6553433 C A SNP GLDC ENST00000321612 human ensembl 74_37 -1 known nonsense c.2392 p.G798* 1.000 superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 118 0 0 67 23 25.5556 KDM4C 0 genome.wustl.edu 37 9 7015923 7015923 + Missense_Mutation SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 7015923 7015923 G C SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.2253 p.W751C 1.000 superfamily_Znf_FYVE_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 139 0 0 71 13 15.4762 TRPM3 0 genome.wustl.edu 37 9 73213556 73213556 + Nonsense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 73213556 73213556 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known nonsense c.2872 p.Q958* 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 190 0 0 115 33 22.2973 ALDH1A1 0 genome.wustl.edu 37 9 75543858 75543858 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 75543858 75543858 C T SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known missense c.392 p.R131H 0.997 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 198 0 0 144 34 19.1011 TRPM6 0 genome.wustl.edu 37 9 77418752 77418752 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 77418752 77418752 C T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known silent c.1689 p.L563 0.550 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 221 0 0 132 21 13.7255 RASEF 0 genome.wustl.edu 37 9 85677651 85677651 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 85677651 85677651 C T SNP RASEF ENST00000376447 human ensembl 74_37 -1 known silent c.132 p.P44 0.413 pfscan_EF_hand_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 9 0 0 7 6 46.1538 AGTPBP1 0 genome.wustl.edu 37 9 88193897 88193897 + Nonsense_Mutation SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 88193897 88193897 C A SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known nonsense c.3316 p.G1106* 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 262 0 0 128 28 17.9487 GOLM1 0 genome.wustl.edu 37 9 88694210 88694210 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 88694210 88694210 C T SNP GOLM1 ENST00000388711 human ensembl 74_37 -1 known missense c.26 p.R9H 1.000 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 53 0 0 27 11 28.9474 ZCCHC6 0 genome.wustl.edu 37 9 88937856 88937856 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 88937856 88937856 T C SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.2809 p.K937E 0.190 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 120 0 0 67 5 6.94444 FGD3 0 genome.wustl.edu 37 9 95738612 95738612 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 95738612 95738612 G A SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.74 p.G25D 0.012 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 36 0 0 17 6 26.087 PTPDC1 0 genome.wustl.edu 37 9 96846852 96846852 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 96846852 96846852 C T SNP PTPDC1 ENST00000288976 human ensembl 74_37 +1 putative missense c.40 p.R14C 0.191 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 112 0 0 66 21 24.1379 NUTM2G 0 genome.wustl.edu 37 9 99697697 99697697 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 99697697 99697697 G A SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known silent c.801 p.T267 0.035 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 91 0 0 73 20 21.5054 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 35660 35660 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af GL000209.1 35660 35660 C T SNP KIR2DL2 ENST00000344867 human ensembl 74_37 +1 known silent c.867 p.S289 NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 103 0 0 51 33 39.2857 BTK 0 genome.wustl.edu 37 X 100609042 100609042 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 100609042 100609042 G A SNP BTK ENST00000488970 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors BTK HGNC ENSG00000010671 124 0 0 74 13 14.9425 BHLHB9 0 genome.wustl.edu 37 X 102005017 102005017 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 102005017 102005017 G A SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known missense c.1094 p.G365D 0.992 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 140 0 0 65 14 17.7215 GLRA4 0 genome.wustl.edu 37 X 102979004 102979004 + Splice_Site SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 102979004 102979004 A G SNP GLRA4 ENST00000372617 human ensembl 74_37 -1 known splice_site c.494+2 e4+2 1.000 - - - no_errors GLRA4 HGNC ENSG00000188828 433 0 0 296 61 17.0868 ESX1 0 genome.wustl.edu 37 X 103495262 103495262 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 103495262 103495262 G A SNP ESX1 ENST00000372588 human ensembl 74_37 -1 known missense c.868 p.R290C 0.058 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU - no_errors ESX1 HGNC ENSG00000123576 134 0 0 87 10 10.3093 LHFPL1 0 genome.wustl.edu 37 X 111914251 111914251 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 111914251 111914251 G A SNP LHFPL1 ENST00000371968 human ensembl 74_37 -1 known missense c.368 p.A123V 0.973 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 98 0 0 51 17 25 AMOT 0 genome.wustl.edu 37 X 112058802 112058802 + Missense_Mutation SNP T T G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 112058802 112058802 T G SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.1176 p.Q392H 0.071 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 80 0 0 54 16 22.8571 SLC6A14 0 genome.wustl.edu 37 X 115582757 115582757 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 115582757 115582757 G A SNP SLC6A14 ENST00000371900 human ensembl 74_37 +1 known missense c.1081 p.A361T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 299 0 0 195 39 16.6667 WDR44 0 genome.wustl.edu 37 X 117529236 117529236 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 117529236 117529236 C T SNP WDR44 ENST00000254029 human ensembl 74_37 +1 known nonsense c.982 p.Q328* 1.000 NULL 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 WDR44 HGNC ENSG00000131725 87 0 0 42 14 25 ZBTB33 0 genome.wustl.edu 37 X 119387551 119387551 + Missense_Mutation SNP G G C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 119387551 119387551 G C SNP ZBTB33 ENST00000326624 human ensembl 74_37 +1 known missense c.281 p.R94T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 219 0 0 118 31 20.8054 TENM1 0 genome.wustl.edu 37 X 123785941 123785941 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 123785941 123785941 G T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.1402 p.L468M 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 127 0 0 62 15 19.4805 DCAF12L2 0 genome.wustl.edu 37 X 125298898 125298898 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 125298898 125298898 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1010 p.R337H 0.964 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 237 1 0.420168 126 31 19.7452 IGSF1 0 genome.wustl.edu 37 X 130419221 130419221 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 130419221 130419221 C T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.599 p.R200H 1.000 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 239 0 0 142 33 18.8571 GPC3 0 genome.wustl.edu 37 X 132887715 132887715 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 132887715 132887715 C T SNP GPC3 ENST00000394299 human ensembl 74_37 -1 known missense c.826 p.G276S 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC ENSG00000147257 325 0 0 187 46 19.7425 MAP7D3 0 genome.wustl.edu 37 X 135313852 135313852 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 135313852 135313852 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known missense c.1210 p.A404T 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 209 0 0 131 42 24.2775 SLITRK2 0 genome.wustl.edu 37 X 144904851 144904851 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 144904851 144904851 G A SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.908 p.R303Q 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 175 0 0 106 25 19.084 GPR50 0 genome.wustl.edu 37 X 150348463 150348463 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 150348463 150348463 C T SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known silent c.408 p.Y136 0.918 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 198 0 0 144 41 22.1622 CNGA2 0 genome.wustl.edu 37 X 150911109 150911109 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 150911109 150911109 G A SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.584 p.R195H 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 214 0 0 118 25 17.4825 ATP2B3 0 genome.wustl.edu 37 X 152845658 152845658 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 152845658 152845658 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.3565 p.G1189S 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 231 0 0 145 20 12.1212 SRPK3 0 genome.wustl.edu 37 X 153048550 153048550 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 153048550 153048550 C T SNP SRPK3 ENST00000370101 human ensembl 74_37 +1 known missense c.725 p.A242V 0.810 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SRPK3 HGNC ENSG00000184343 91 0 0 56 23 29.1139 IRAK1 0 genome.wustl.edu 37 X 153278550 153278550 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 153278550 153278550 G A SNP IRAK1 ENST00000369980 human ensembl 74_37 -1 known missense c.1874 p.T625M 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK1 HGNC ENSG00000184216 61 0 0 41 11 21.1538 FLNA 0 genome.wustl.edu 37 X 153577241 153577241 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 153577241 153577241 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.7920 p.S2640 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 107 0 0 53 18 25.3521 FUNDC2 0 genome.wustl.edu 37 X 154255310 154255310 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 154255310 154255310 C T SNP FUNDC2 ENST00000369498 human ensembl 74_37 +1 known nonsense c.97 p.R33* 1.000 NULL pfam_FUN14 - no_errors FUNDC2 HGNC ENSG00000165775 28 0 0 14 4 22.2222 VAMP7 0 genome.wustl.edu 37 X 155119136 155119136 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 155119136 155119136 A G SNP VAMP7 ENST00000262640 human ensembl 74_37 +1 known missense c.7 p.I3V 1.000 superfamily_Longin-like_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors VAMP7 HGNC ENSG00000124333 211 0 0 136 10 6.84932 CTPS2 0 genome.wustl.edu 37 X 16685651 16685651 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 16685651 16685651 C T SNP CTPS2 ENST00000359276 human ensembl 74_37 -1 known missense c.1282 p.A428T 0.000 pfam_GATASE,pfam_Peptidase_C26,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS2 HGNC ENSG00000047230 285 0 0 191 47 19.7479 EIF1AX 0 genome.wustl.edu 37 X 20153899 20153899 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 20153899 20153899 C T SNP EIF1AX ENST00000379607 human ensembl 74_37 -1 known missense c.161 p.G54D 1.000 pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A - no_errors EIF1AX HGNC ENSG00000173674 317 0 0 199 36 15.3191 POLA1 0 genome.wustl.edu 37 X 24732689 24732689 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 24732689 24732689 G A SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known missense c.365 p.R122H 0.000 tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 19 0 0 11 4 26.6667 DCAF8L1 0 genome.wustl.edu 37 X 27998141 27998141 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 27998141 27998141 A G SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known silent c.1311 p.N437 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 84 0 0 65 4 5.7971 DCAF8L1 0 genome.wustl.edu 37 X 27998625 27998625 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 27998625 27998625 C T SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known missense c.827 p.C276Y 0.996 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 145 0 0 78 13 14.2857 DCAF8L1 0 genome.wustl.edu 37 X 27998761 27998761 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 27998761 27998761 C T SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known missense c.691 p.V231I 0.987 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 DCAF8L1 HGNC ENSG00000226372 66 0 0 46 16 25.8065 PPP2R3B 0 genome.wustl.edu 37 X 299579 299579 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 299579 299579 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.1404 p.F468 0.996 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 138 1 0.719424 92 16 14.8148 ARSF 0 genome.wustl.edu 37 X 3021856 3021856 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 3021856 3021856 C T SNP ARSF ENST00000359361 human ensembl 74_37 +1 known nonsense c.1156 p.R386* 0.835 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 165 0 0 108 30 21.7391 MXRA5 0 genome.wustl.edu 37 X 3229209 3229209 + Silent SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 3229209 3229209 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.7035 p.P2345 0.101 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 282 0 0 167 39 18.932 DMD 0 genome.wustl.edu 37 X 33146282 33146282 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 33146282 33146282 T C SNP DMD ENST00000378677 human ensembl 74_37 -1 known missense c.1 p.M1V 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 26 0 0 19 6 24 PRKX 0 genome.wustl.edu 37 X 3592808 3592808 + Splice_Site SNP C C A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 3592808 3592808 C A SNP PRKX ENST00000262848 human ensembl 74_37 -1 known splice_site c.167-1 e2-1 1.000 - - - no_errors PRKX HGNC ENSG00000183943 159 0 0 93 34 26.7717 USP9X 0 genome.wustl.edu 37 X 41012336 41012336 + Splice_Site SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 41012336 41012336 T C SNP USP9X ENST00000324545 human ensembl 74_37 +1 known splice_site c.1897+2 e13+2 1.000 - - - no_errors USP9X HGNC ENSG00000124486 161 0 0 84 18 17.6471 SSX5 0 genome.wustl.edu 37 X 48054732 48054732 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 48054732 48054732 C T SNP SSX5 ENST00000311798 human ensembl 74_37 -1 known missense c.63 p.M21I 0.000 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 294 0 0 212 57 21.1896 CCNB3 0 genome.wustl.edu 37 X 50053728 50053728 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 50053728 50053728 A G SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known silent c.2559 p.E853 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 65 0 0 35 6 14.6341 HUWE1 0 genome.wustl.edu 37 X 53586422 53586422 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 53586422 53586422 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.7808 p.R2603Q 0.999 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 100 0 0 59 12 16.9014 HUWE1 0 genome.wustl.edu 37 X 53590731 53590731 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 53590731 53590731 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.7081 p.G2361R 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 65 0 0 29 11 27.5 GNL3L 0 genome.wustl.edu 37 X 54578085 54578085 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 54578085 54578085 C T SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known silent c.948 p.G316 0.998 pfam_GTP_binding_domain,prints_GTP_binding_domain pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 69 0 0 51 11 17.7419 GNL3L 0 genome.wustl.edu 37 X 54578110 54578110 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 54578110 54578110 G A SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known missense c.973 p.V325M 0.503 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 86 0 0 50 21 29.5775 TRO 0 genome.wustl.edu 37 X 54955519 54955519 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 54955519 54955519 A G SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.2362 p.S788G 0.331 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 131 0 0 101 25 19.8413 TRO 0 genome.wustl.edu 37 X 54955602 54955602 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 54955602 54955602 C T SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.2445 p.G815 0.241 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 95 0 0 70 15 17.6471 NLGN4X 0 genome.wustl.edu 37 X 5821511 5821511 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 5821511 5821511 A G SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.1268 p.V423A 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 28 0 0 21 5 19.2308 AR 0 genome.wustl.edu 37 X 66937333 66937333 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 66937333 66937333 A G SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.2187 p.L729 0.996 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Andrgn_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_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 63 0 0 43 16 27.1186 PJA1 0 genome.wustl.edu 37 X 68381384 68381384 + Missense_Mutation SNP A A T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 68381384 68381384 A T SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known missense c.1698 p.N566K 0.982 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 134 0 0 107 11 9.32203 FAM155B 0 genome.wustl.edu 37 X 68749653 68749653 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 68749653 68749653 C T SNP FAM155B ENST00000252338 human ensembl 74_37 +1 known missense c.1273 p.R425C 0.973 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 128 0 0 83 10 10.7527 IGBP1 0 genome.wustl.edu 37 X 69385717 69385717 + Silent SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 69385717 69385717 A G SNP IGBP1 ENST00000342206 human ensembl 74_37 +1 known silent c.906 p.E302 0.828 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 45 0 0 21 9 30 ARR3 0 genome.wustl.edu 37 X 69496058 69496058 + Missense_Mutation SNP A A G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 69496058 69496058 A G SNP ARR3 ENST00000307959 human ensembl 74_37 +1 known missense c.272 p.Q91R 0.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC ENSG00000120500 76 0 0 45 9 16.6667 DLG3 0 genome.wustl.edu 37 X 69712027 69712027 + Missense_Mutation SNP G G T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 69712027 69712027 G T SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known missense c.1645 p.D549Y 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 59 0 0 25 7 21.875 NLGN3 0 genome.wustl.edu 37 X 70367840 70367840 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 70367840 70367840 G A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.241 p.E81K 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 48 0 0 45 8 15.0943 PHKA1 0 genome.wustl.edu 37 X 71813009 71813009 + Missense_Mutation SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 71813009 71813009 G A SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.3239 p.A1080V 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 263 0 0 163 42 20.4878 ATRX 0 genome.wustl.edu 37 X 76937945 76937945 + Missense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 76937945 76937945 C T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.2803 p.E935K 0.001 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 362 0 0 202 36 15.1261 LPAR4 0 genome.wustl.edu 37 X 78010323 78010323 + RNA SNP G G A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 78010323 78010323 G A SNP LPAR4 ENST00000607964 human ensembl 74_37 +1 known rna NULL NULL 0.971 - - - no_errors LPAR4 HGNC ENSG00000147145 73 0 0 30 13 30.2326 FAM9A 0 genome.wustl.edu 37 X 8767015 8767015 + Missense_Mutation SNP T T C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 8767015 8767015 T C SNP FAM9A ENST00000381003 human ensembl 74_37 -1 known missense c.212 p.K71R 0.000 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 98 0 0 52 12 18.75 RPA4 0 genome.wustl.edu 37 X 96139888 96139888 + Silent SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 96139888 96139888 C T SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known silent c.579 p.N193 0.000 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 204 0 0 122 29 19.2053 SRPX2 0 genome.wustl.edu 37 X 99924335 99924335 + Nonsense_Mutation SNP C C T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 99924335 99924335 C T SNP SRPX2 ENST00000373004 human ensembl 74_37 +1 known nonsense c.1186 p.Q396* 0.997 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 48 0 0 30 9 23.0769 SASS6 0 genome.wustl.edu 37 1 100588802 100588802 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 100588802 100588802 A - DEL SASS6 ENST00000287482 human ensembl 74_37 -1 known frame_shift_del c.170 p.L57fs 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 57 0 0 26 6 18.75 ENSG00000226849 0 genome.wustl.edu 37 1 11132250 11132251 + RNA INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 11132250 11132251 - A INS ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 117 1 0.847458 89 12 11.8812 ENSG00000226849 0 genome.wustl.edu 37 1 11132251 11132251 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 11132251 11132251 A - DEL ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 118 0 0 90 11 10.8911 DENND2D 0 genome.wustl.edu 37 1 111730237 111730238 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 111730237 111730238 - T INS DENND2D ENST00000357640 human ensembl 74_37 -1 known frame_shift_ins c.1406_1405 p.T469fs 1.000:0.994 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 DENND2D HGNC ENSG00000162777 69 0 0 47 12 20.339 CASQ2 0 genome.wustl.edu 37 1 116243912 116243913 + In_Frame_Ins INS - - ATC TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 116243912 116243913 - ATC INS CASQ2 ENST00000261448 human ensembl 74_37 -1 known in_frame_ins c.1150_1149 p.383in_frame_insD 0.000:0.000 NULL pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ2 HGNC ENSG00000118729 66 0 0 48 10 17.2414 ANKRD34A 0 genome.wustl.edu 37 1 145473989 145473989 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 145473989 145473989 C - DEL ANKRD34A ENST00000323397 human ensembl 74_37 +1 known frame_shift_del c.661 p.D223fs 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 264 0 0 188 32 14.5455 BCL9 0 genome.wustl.edu 37 1 147092681 147092681 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 147092681 147092681 C - DEL BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_del c.2720 p.P909fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 221 0 0 139 20 12.5786 RPRD2 0 genome.wustl.edu 37 1 150337344 150337344 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 150337344 150337344 A - DEL RPRD2 ENST00000369068 human ensembl 74_37 +1 known frame_shift_del c.154 p.K53fs 1.000 superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 75 0 0 43 7 14 ZNF687 0 genome.wustl.edu 37 1 151259629 151259631 + In_Frame_Del DEL GAT GAT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 151259629 151259631 GAT - DEL ZNF687 ENST00000324048 human ensembl 74_37 +1 known in_frame_del c.862_864 p.D290in_frame_del 0.247:0.170:0.087 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 151 0 0 97 18 15.6522 LINGO4 0 genome.wustl.edu 37 1 151774033 151774033 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 151774033 151774033 G - DEL LINGO4 ENST00000368820 human ensembl 74_37 -1 known frame_shift_del c.1148 p.P383fs 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 84 0 0 64 10 13.5135 LCE1F 0 genome.wustl.edu 37 1 152748934 152748934 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 152748934 152748934 C - DEL LCE1F ENST00000334371 human ensembl 74_37 +1 known frame_shift_del c.87 p.P31fs 0.945 NULL NULL - no_errors LCE1F HGNC ENSG00000240386 173 0 0 144 27 15.7895 NUP210L 0 genome.wustl.edu 37 1 154067526 154067526 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 154067526 154067526 A - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.2072 p.L691fs 0.995 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 90 0 0 50 13 20.6349 UBE2Q1 0 genome.wustl.edu 37 1 154530751 154530752 + Frame_Shift_Ins INS - - G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 154530751 154530752 - G INS UBE2Q1 ENST00000292211 human ensembl 74_37 -1 known frame_shift_ins c.279_278 p.R94fs 0.000:0.001 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 34 0 0 31 2 6.06061 TRIM46 0 genome.wustl.edu 37 1 155148062 155148062 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 155148062 155148062 C - DEL TRIM46 ENST00000334634 human ensembl 74_37 +1 known frame_shift_del c.264 p.R90fs 1.000 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 168 0 0 129 13 9.15493 TMEM79 0 genome.wustl.edu 37 1 156255783 156255783 + RNA DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 156255783 156255783 G - DEL TMEM79 ENST00000495881 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TMEM79 HGNC ENSG00000163472 317 0 0 218 32 12.8 ARHGEF11 0 genome.wustl.edu 37 1 156905647 156905647 + RNA DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 156905647 156905647 C - DEL ARHGEF11 ENST00000487682 human ensembl 74_37 -1 known rna NULL NULL 0.170 - - - no_errors ARHGEF11 HGNC ENSG00000132694 10 0 0 10 5 33.3333 GORAB 0 genome.wustl.edu 37 1 170511699 170511699 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 170511699 170511699 A - DEL GORAB ENST00000367763 human ensembl 74_37 +1 known frame_shift_del c.562 p.A190fs 1.000 pfam_Transcript_act pfam_Transcript_act - no_errors GORAB HGNC ENSG00000120370 336 0 0 201 31 13.3621 CACNA1E 0 genome.wustl.edu 37 1 181680101 181680102 + Frame_Shift_Ins INS - - AG TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 181680101 181680102 - AG INS CACNA1E ENST00000367573 human ensembl 74_37 +1 known frame_shift_ins c.1067_1068 p.E360fs 1.000:1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 139 0 0 100 21 17.3554 ENSG00000230260 0 genome.wustl.edu 37 1 197411573 197411573 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 197411573 197411573 A - DEL ENSG00000230260 ENST00000422250 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-75C23.1 Clone_based_vega_gene ENSG00000230260 27 0 0 21 4 16 TMEM81 0 genome.wustl.edu 37 1 205053328 205053329 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 205053328 205053329 - C INS TMEM81 ENST00000367167 human ensembl 74_37 -1 known frame_shift_ins c.121_120 p.K40fs 0.532:0.826 NULL pfscan_Ig-like_dom - no_errors TMEM81 HGNC ENSG00000174529 99 0 0 86 25 22.5225 EIF2D 0 genome.wustl.edu 37 1 206773636 206773637 + Frame_Shift_Ins INS - - TTATGTCC TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 206773636 206773637 - TTATGTCC INS EIF2D ENST00000271764 human ensembl 74_37 -1 known frame_shift_ins c.929_928 p.K310fs 1.000:1.000 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 133 0 0 105 11 9.48276 CR2 0 genome.wustl.edu 37 1 207641844 207641844 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 207641844 207641844 T - DEL CR2 ENST00000485707 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors CR2 HGNC ENSG00000117322 89 0 0 49 13 20.9677 MIA3 0 genome.wustl.edu 37 1 222802778 222802779 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 222802778 222802779 - A INS MIA3 ENST00000344441 human ensembl 74_37 +1 known frame_shift_ins c.2216_2217 p.R741fs 0.961:0.021 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 136 0 0 76 21 21.6495 LOC100130331 0 genome.wustl.edu 37 1 238090207 238090207 + RNA DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 238090207 238090207 C - DEL LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 29 0 0 15 6 28.5714 CHRM3 0 genome.wustl.edu 37 1 240072444 240072445 + Frame_Shift_Del DEL AA AA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 240072444 240072445 AA - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693_1694 p.K567fs 1.000:0.988 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 120 0 0 72 22 23.4043 IL22RA1 0 genome.wustl.edu 37 1 24447935 24447935 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 24447935 24447935 G - DEL IL22RA1 ENST00000270800 human ensembl 74_37 -1 novel frame_shift_del c.1085 p.P362fs 0.019 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 305 0 0 172 46 21.1009 GRHL3 0 genome.wustl.edu 37 1 24664148 24664149 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 24664148 24664149 - C INS GRHL3 ENST00000350501 human ensembl 74_37 +1 known frame_shift_ins c.709_710 p.K239fs 0.999:1.000 pfam_CP2 pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 81 0 0 56 10 15.1515 CATSPER4 0 genome.wustl.edu 37 1 26529010 26529010 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 26529010 26529010 A - DEL CATSPER4 ENST00000456354 human ensembl 74_37 +1 known frame_shift_del c.1396 p.K467fs 0.001 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 25 0 0 12 2 14.2857 ARID1A 0 genome.wustl.edu 37 1 27057708 27057709 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 27057708 27057709 - A INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.1416_1417 p.Q472fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 614 0 0 393 95 19.4672 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 77 0 0 48 13 21.3115 MARCKSL1 0 genome.wustl.edu 37 1 32800540 32800540 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 32800540 32800540 G - DEL MARCKSL1 ENST00000329421 human ensembl 74_37 -1 known frame_shift_del c.246 p.K83fs 1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKSL1 HGNC ENSG00000175130 172 0 0 105 14 11.7647 GJB5 0 genome.wustl.edu 37 1 35223698 35223699 + In_Frame_Ins INS - - TCC TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 35223698 35223699 - TCC INS GJB5 ENST00000338513 human ensembl 74_37 +1 known in_frame_ins c.767_768 p.259in_frame_insP 0.002:0.004 prints_Connexin311 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311 - no_errors GJB5 HGNC ENSG00000189280 135 0 0 71 20 21.978 ZMYM4 0 genome.wustl.edu 37 1 35836080 35836080 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 35836080 35836080 A - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1033 p.I347fs 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 186 0 0 108 16 12.9032 MAP7D1 0 genome.wustl.edu 37 1 36636626 36636626 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 36636626 36636626 C - DEL MAP7D1 ENST00000373151 human ensembl 74_37 +1 known frame_shift_del c.101 p.P36fs 0.090 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 226 0 0 135 17 11.1842 RNF220 0 genome.wustl.edu 37 1 45097943 45097943 + RNA DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 45097943 45097943 G - DEL RNF220 ENST00000475378 human ensembl 74_37 +1 known rna NULL NULL 0.273 - - - no_errors RNF220 HGNC ENSG00000187147 53 0 0 29 7 19.4444 ZCCHC11 0 genome.wustl.edu 37 1 52991653 52991653 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 52991653 52991653 T - DEL ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_del c.300 p.K100fs 0.628 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 300 1 0.332226 210 46 17.9688 USP24 0 genome.wustl.edu 37 1 55560928 55560929 + Frame_Shift_Del DEL AG AG - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 55560928 55560929 AG - DEL USP24 ENST00000407756 human ensembl 74_37 -1 known frame_shift_del c.5723_5722 p.L1908fs 1.000:0.999 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 49 0 0 18 5 21.7391 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 71 0 0 52 16 23.5294 MIER1 0 genome.wustl.edu 37 1 67425495 67425495 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 67425495 67425495 T - DEL MIER1 ENST00000493357 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIER1 HGNC ENSG00000198160 31 0 0 26 2 7.14286 GNG12 0 genome.wustl.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 68171151 68171151 T - DEL GNG12 ENST00000370982 human ensembl 74_37 -1 known frame_shift_del c.202 p.T68fs 1.000 smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 178 0 0 123 17 12.1429 PTGER3 0 genome.wustl.edu 37 1 71331414 71331414 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 71331414 71331414 G - DEL PTGER3 ENST00000497146 human ensembl 74_37 -1 known frame_shift_del c.1207 p.H403fs 0.000 NULL 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 210 0 0 118 32 21.3333 USP33 0 genome.wustl.edu 37 1 78205025 78205026 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 78205025 78205026 - A INS USP33 ENST00000357428 human ensembl 74_37 -1 known frame_shift_ins c.369_368 p.L123fs 1.000:1.000 pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 310 0 0 203 44 17.8138 BCL10 0 genome.wustl.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 85736511 85736511 T - DEL BCL10 ENST00000370580 human ensembl 74_37 -1 known frame_shift_del c.136 p.I46fs 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 198 1 0.502513 125 29 18.8312 ODF2L 0 genome.wustl.edu 37 1 86826142 86826142 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 86826142 86826142 T - DEL ODF2L ENST00000317336 human ensembl 74_37 -1 known frame_shift_del c.1221 p.K407fs 0.038 NULL NULL - no_errors ODF2L HGNC ENSG00000122417 98 0 0 32 13 28.8889 CDC7 0 genome.wustl.edu 37 1 91967357 91967357 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 91967357 91967357 A - DEL CDC7 ENST00000234626 human ensembl 74_37 +1 known frame_shift_del c.84 p.N31fs 0.083 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 CDC7 HGNC ENSG00000097046 247 0 0 159 27 14.5161 CLSTN1 0 genome.wustl.edu 37 1 9809959 9809959 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 1 9809959 9809959 T - DEL CLSTN1 ENST00000377298 human ensembl 74_37 -1 known frame_shift_del c.662 p.N221fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 73 0 0 53 16 23.1884 NOLC1 0 genome.wustl.edu 37 10 103919299 103919299 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 103919299 103919299 A - DEL NOLC1 ENST00000405356 human ensembl 74_37 +1 known frame_shift_del c.863 p.K290fs 0.998 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 110 0 0 72 27 27.2727 CACUL1 0 genome.wustl.edu 37 10 120514110 120514110 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 120514110 120514110 C - DEL CACUL1 ENST00000369151 human ensembl 74_37 -1 known frame_shift_del c.165 p.Q56fs 0.711 NULL pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC ENSG00000151893 38 0 0 12 6 33.3333 NMT2 0 genome.wustl.edu 37 10 15183500 15183500 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 15183500 15183500 T - DEL NMT2 ENST00000378165 human ensembl 74_37 -1 known frame_shift_del c.167 p.K56fs 1.000 pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 105 0 0 61 11 15.2778 101928757 0 genome.wustl.edu 37 10 17865318 17865318 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 17865318 17865318 A - DEL 101928757 ENST00000457317 human ensembl 74_37 +1 known frame_shift_del c.307 p.N104fs 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 390 0 0 327 25 7.10227 ANKRD26 0 genome.wustl.edu 37 10 27322259 27322259 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 27322259 27322259 T - DEL ANKRD26 ENST00000436985 human ensembl 74_37 -1 known frame_shift_del c.3750 p.K1250fs 0.005 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 137 0 0 104 12 10.3448 DIP2C 0 genome.wustl.edu 37 10 412273 412274 + Frame_Shift_Ins INS - - CA TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 412273 412274 - CA INS DIP2C ENST00000280886 human ensembl 74_37 -1 known frame_shift_ins c.2210_2209 p.A737fs 0.996:0.993 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 66 0 0 50 9 15.2542 ZFAND4 0 genome.wustl.edu 37 10 46121425 46121425 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 46121425 46121425 G - DEL ZFAND4 ENST00000344646 human ensembl 74_37 -1 known frame_shift_del c.1846 p.Q616fs 0.965 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 151 0 0 111 42 27.451 NET1 0 genome.wustl.edu 37 10 5495005 5495005 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 5495005 5495005 T - DEL NET1 ENST00000465087 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NET1 HGNC ENSG00000173848 40 0 0 11 5 31.25 FAM208B 0 genome.wustl.edu 37 10 5782141 5782142 + Frame_Shift_Del DEL GA GA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 5782141 5782142 GA - DEL FAM208B ENST00000328090 human ensembl 74_37 +1 known frame_shift_del c.2008_2009 p.E672fs 0.466:0.514 pfam_DUF3715 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 316 0 0 246 72 22.6415 RTKN2 0 genome.wustl.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 63958149 63958149 T - DEL RTKN2 ENST00000373789 human ensembl 74_37 -1 known frame_shift_del c.1348 p.I450fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 169 1 0.588235 109 16 12.8 HERC4 0 genome.wustl.edu 37 10 69716603 69716604 + RNA DEL AA AA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 69716603 69716604 AA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 73 0 0 34 21 38.1818 H2AFY2 0 genome.wustl.edu 37 10 71851665 71851665 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 71851665 71851665 G - DEL H2AFY2 ENST00000373255 human ensembl 74_37 +1 known frame_shift_del c.432 p.K147fs 1.000 pirsf_Core_histone_macro-H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 101 0 0 75 11 12.7907 ZSWIM8-AS1 0 genome.wustl.edu 37 10 75556794 75556794 + RNA DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 75556794 75556794 G - DEL ZSWIM8-AS1 ENST00000456638 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZSWIM8-AS1 HGNC ENSG00000272589 89 0 0 50 16 24.2424 ADK 0 genome.wustl.edu 37 10 76153932 76153932 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 76153932 76153932 T - DEL ADK ENST00000286621 human ensembl 74_37 +1 known frame_shift_del c.307 p.F104fs 0.997 pfam_PfkB_dom,prints_Adenokinase pfam_PfkB_dom,prints_Adenokinase - no_errors ADK HGNC ENSG00000156110 315 0 0 204 15 6.84932 ENSG00000228748 0 genome.wustl.edu 37 10 79552313 79552313 + RNA DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 79552313 79552313 C - DEL ENSG00000228748 ENST00000434097 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors RP13-39P12.3 Clone_based_vega_gene ENSG00000228748 100 0 0 84 14 14.2857 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 165 0 0 139 23 14.1975 STAMBPL1 0 genome.wustl.edu 37 10 90682145 90682146 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 10 90682145 90682146 - A INS STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_ins c.1206_1207 p.G406fs 1.000:1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 161 0 0 108 28 20.5882 NCAM1 0 genome.wustl.edu 37 11 113146186 113146187 + RNA DEL AC AC - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 113146186 113146187 AC - DEL NCAM1 ENST00000397957 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors NCAM1 HGNC ENSG00000149294 20 0 0 4 4 50 CSNK2A3 0 genome.wustl.edu 37 11 11373969 11373969 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 11373969 11373969 A - DEL CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel frame_shift_del c.698 p.F233fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 246 0 0 228 20 8.06452 SORL1 0 genome.wustl.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 121475905 121475905 A - DEL SORL1 ENST00000260197 human ensembl 74_37 +1 known frame_shift_del c.4735 p.M1581fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 272 1 0.3663 216 39 15.2941 ROBO4 0 genome.wustl.edu 37 11 124757029 124757029 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 124757029 124757029 G - DEL ROBO4 ENST00000306534 human ensembl 74_37 -1 known frame_shift_del c.2279 p.P760fs 0.978 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 109 0 0 114 14 10.9375 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 558 2 0.357143 467 62 11.7202 ARHGAP32 0 genome.wustl.edu 37 11 128851757 128851757 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 128851757 128851757 T - DEL ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known frame_shift_del c.1559 p.N520fs 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 119 0 0 74 39 34.5133 SOX6 0 genome.wustl.edu 37 11 16339955 16339955 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 16339955 16339955 A - DEL SOX6 ENST00000533658 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SOX6 HGNC ENSG00000110693 107 0 0 103 14 11.9658 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 151 0 0 93 18 16.2162 B4GALNT4 0 genome.wustl.edu 37 11 375700 375700 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 375700 375700 G - DEL B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known frame_shift_del c.912 p.R307fs 0.021 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 88 0 0 61 6 8.95522 AMBRA1 0 genome.wustl.edu 37 11 46568609 46568609 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 46568609 46568609 A - DEL AMBRA1 ENST00000524783 human ensembl 74_37 -1 known rna NULL NULL 0.881 - - - no_errors AMBRA1 HGNC ENSG00000110497 66 0 0 55 8 12.6984 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 248 0 0 151 57 27.4038 KBTBD4 0 genome.wustl.edu 37 11 47594882 47594883 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 47594882 47594883 - C INS KBTBD4 ENST00000430070 human ensembl 74_37 -1 known frame_shift_ins c.1205_1204 p.E402fs 1.000:1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 209 1 0.47619 193 24 11.0599 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 76 0 0 31 17 35.4167 OR1S1 0 genome.wustl.edu 37 11 57982425 57982425 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 57982425 57982425 C - DEL OR1S1 ENST00000309433 human ensembl 74_37 +1 known frame_shift_del c.209 p.M72fs 0.959 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 OR1S1 HGNC ENSG00000172774 407 0 0 310 35 10.1449 FADS1 0 genome.wustl.edu 37 11 61578343 61578343 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 61578343 61578343 G - DEL FADS1 ENST00000350997 human ensembl 74_37 -1 known frame_shift_del c.795 p.A266fs 0.070 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,prints_Cyt_B5-like_heme/steroid-bd - no_errors FADS1 HGNC ENSG00000149485 98 0 0 77 21 21.4286 SLC22A9 0 genome.wustl.edu 37 11 63149671 63149672 + Frame_Shift_Del DEL AA AA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 63149671 63149672 AA - DEL SLC22A9 ENST00000279178 human ensembl 74_37 +1 known frame_shift_del c.995_996 p.K335fs 0.005:0.008 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 279 0 0 154 61 28.3721 MALAT1 0 genome.wustl.edu 37 11 65266552 65266552 + RNA DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 65266552 65266552 G - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 176 0 0 169 16 8.64865 SNX32 0 genome.wustl.edu 37 11 65617442 65617444 + In_Frame_Del DEL GAG GAG - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 65617442 65617444 GAG - DEL SNX32 ENST00000308342 human ensembl 74_37 +1 known in_frame_del c.193_195 p.E66in_frame_del 1.000:1.000:0.999 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 90 0 0 71 13 15.4762 PPP1CA 0 genome.wustl.edu 37 11 67165933 67165933 + RNA DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 67165933 67165933 C - DEL PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.080 - - - no_errors PPP1CA HGNC ENSG00000172531 27 0 0 20 8 28.5714 CORO1B 0 genome.wustl.edu 37 11 67209168 67209169 + Frame_Shift_Del DEL GG GG - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 67209168 67209169 GG - DEL CORO1B ENST00000545016 human ensembl 74_37 -1 known frame_shift_del c.490_489 p.H164fs 0.000:0.000 NULL pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 22 0 0 27 6 18.1818 POLD3 0 genome.wustl.edu 37 11 74336609 74336609 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 74336609 74336609 A - DEL POLD3 ENST00000263681 human ensembl 74_37 +1 known frame_shift_del c.890 p.R300fs 0.998 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 61 0 0 67 13 16.25 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 45 0 0 27 7 20.5882 DLG2 0 genome.wustl.edu 37 11 84028016 84028016 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 84028016 84028016 C - DEL DLG2 ENST00000280241 human ensembl 74_37 -1 known frame_shift_del c.173 p.G58fs 0.956 pfam_MAGUK_PEST_N,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 300 0 0 263 39 12.9139 SYTL2 0 genome.wustl.edu 37 11 85436878 85436878 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 85436878 85436878 T - DEL SYTL2 ENST00000359152 human ensembl 74_37 -1 known frame_shift_del c.2194 p.T732fs 0.002 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 272 0 0 197 37 15.812 SCUBE2 0 genome.wustl.edu 37 11 9048996 9048996 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 11 9048996 9048996 G - DEL SCUBE2 ENST00000457346 human ensembl 74_37 -1 known frame_shift_del c.2616 p.K873fs 0.978 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 93 0 0 69 8 10.3896 ANKS1B 0 genome.wustl.edu 37 12 100166682 100166682 + RNA DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 100166682 100166682 C - DEL ANKS1B ENST00000552472 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors ANKS1B HGNC ENSG00000185046 106 0 0 69 16 18.8235 UTP20 0 genome.wustl.edu 37 12 101680157 101680157 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 101680157 101680157 T - DEL UTP20 ENST00000261637 human ensembl 74_37 +1 known frame_shift_del c.385 p.L131fs 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 572 0 0 423 72 14.5455 KLRK1 0 genome.wustl.edu 37 12 10532376 10532376 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 10532376 10532376 A - DEL KLRK1 ENST00000240618 human ensembl 74_37 -1 known frame_shift_del c.164 p.F55fs 0.002 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 60 0 0 33 3 8.33333 ALKBH2 0 genome.wustl.edu 37 12 109526014 109526014 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 109526014 109526014 T - DEL ALKBH2 ENST00000343075 human ensembl 74_37 -1 known frame_shift_del c.783 p.K261fs 0.751 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH2 HGNC ENSG00000189046 209 0 0 95 47 33.0986 PPP1CC 0 genome.wustl.edu 37 12 111169781 111169781 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 111169781 111169781 A - DEL PPP1CC ENST00000546933 human ensembl 74_37 -1 putative frame_shift_del c.8 p.L3fs 0.003 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CC HGNC ENSG00000186298 52 0 0 38 4 9.52381 PRKAB1 0 genome.wustl.edu 37 12 120106124 120106124 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 120106124 120106124 G - DEL PRKAB1 ENST00000229328 human ensembl 74_37 +1 known frame_shift_del c.75 p.G27fs 0.643 NULL pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 49 0 0 29 8 21.6216 GPR19 0 genome.wustl.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 12814274 12814274 T - DEL GPR19 ENST00000332427 human ensembl 74_37 -1 known frame_shift_del c.1109 p.N370fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 303 0 0 226 43 15.9851 ULK1 0 genome.wustl.edu 37 12 132402066 132402066 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 132402066 132402066 C - DEL ULK1 ENST00000321867 human ensembl 74_37 +1 known frame_shift_del c.2293 p.Q767fs 0.683 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 31 0 0 22 4 15.3846 FOXM1 0 genome.wustl.edu 37 12 2968088 2968088 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 2968088 2968088 G - DEL FOXM1 ENST00000342628 human ensembl 74_37 -1 known frame_shift_del c.2122 p.E709fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 173 0 0 91 39 30 FAM60A 0 genome.wustl.edu 37 12 31448178 31448178 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 31448178 31448178 T - DEL FAM60A ENST00000337682 human ensembl 74_37 -1 known frame_shift_del c.218 p.N73fs 1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 71 0 0 36 27 42.8571 ALG10B 0 genome.wustl.edu 37 12 38714473 38714473 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 38714473 38714473 T - DEL ALG10B ENST00000308742 human ensembl 74_37 +1 known frame_shift_del c.880 p.S296fs 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 372 0 0 269 30 10.0334 SENP1 0 genome.wustl.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 48458896 48458896 T - DEL SENP1 ENST00000004980 human ensembl 74_37 -1 known frame_shift_del c.1227 p.G410fs 0.206 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 51 0 0 35 17 32.6923 KMT2D 0 genome.wustl.edu 37 12 49443667 49443667 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 49443667 49443667 C - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.3704 p.G1235fs 0.962 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 168 0 0 126 32 20.2532 CBX5 0 genome.wustl.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 54645832 54645832 T - DEL CBX5 ENST00000209875 human ensembl 74_37 -1 known frame_shift_del c.317 p.K106fs 1.000 superfamily_Chromodomain-like pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX5 HGNC ENSG00000094916 429 1 0.232558 317 47 12.9121 OR10A7 0 genome.wustl.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 55615114 55615116 CTT - DEL OR10A7 ENST00000326258 human ensembl 74_37 +1 known in_frame_del c.306_308 p.F106in_frame_del 0.334:0.368:0.372 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 OR10A7 HGNC ENSG00000179919 499 1 0.2 370 96 20.6009 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 179 0 0 132 35 20.9581 GLI1 0 genome.wustl.edu 37 12 57860075 57860075 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 57860075 57860075 G - DEL GLI1 ENST00000228682 human ensembl 74_37 +1 known frame_shift_del c.815 p.G274fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 340 0 0 274 77 21.9373 GNS 0 genome.wustl.edu 37 12 65141602 65141603 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 65141602 65141603 - C INS GNS ENST00000258145 human ensembl 74_37 -1 known frame_shift_ins c.349_348 p.N116fs 1.000:0.898 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 295 0 0 241 29 10.7407 GRIP1 0 genome.wustl.edu 37 12 66788074 66788074 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 66788074 66788074 C - DEL GRIP1 ENST00000359742 human ensembl 74_37 -1 known frame_shift_del c.2043 p.G684fs 0.965 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 159 0 0 133 20 13.0719 YEATS4 0 genome.wustl.edu 37 12 69783974 69783974 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 69783974 69783974 A - DEL YEATS4 ENST00000247843 human ensembl 74_37 +1 known frame_shift_del c.562 p.T190fs 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS4 HGNC ENSG00000127337 58 0 0 32 11 25.5814 UBE2N 0 genome.wustl.edu 37 12 93804686 93804686 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 12 93804686 93804686 A - DEL UBE2N ENST00000550657 human ensembl 74_37 -1 novel frame_shift_del c.420 p.H141fs 0.048 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2N HGNC ENSG00000177889 98 0 0 63 15 19.2308 COL4A2 0 genome.wustl.edu 37 13 111114439 111114439 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 111114439 111114439 T - DEL COL4A2 ENST00000478681 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL4A2 HGNC ENSG00000134871 42 0 0 28 11 28.2051 GAS6 0 genome.wustl.edu 37 13 114523858 114523858 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 114523858 114523858 G - DEL GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_del c.2145 p.V716fs 0.008 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 83 0 0 43 12 21.8182 SACS 0 genome.wustl.edu 37 13 23912864 23912864 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 23912864 23912864 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.5151 p.K1717fs 0.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 101 0 0 49 9 15.5172 RNF6 0 genome.wustl.edu 37 13 26788241 26788241 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 26788241 26788241 A - DEL RNF6 ENST00000346166 human ensembl 74_37 -1 known frame_shift_del c.1778 p.L593fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 279 1 0.357143 173 30 14.7783 CDX2 0 genome.wustl.edu 37 13 28537277 28537278 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 28537277 28537278 - C INS CDX2 ENST00000381020 human ensembl 74_37 -1 known frame_shift_ins c.917_916 p.V306fs 0.999:0.992 NULL pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC ENSG00000165556 109 0 0 66 13 16.4557 SLC46A3 0 genome.wustl.edu 37 13 29278265 29278265 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 29278265 29278265 A - DEL SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC46A3 HGNC ENSG00000139508 64 0 0 42 8 16 BRCA2 0 genome.wustl.edu 37 13 32913836 32913837 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 32913836 32913837 - A INS BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_ins c.5344_5345 p.N1784fs 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 76 0 0 53 10 15.873 PDS5B 0 genome.wustl.edu 37 13 33344568 33344568 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 33344568 33344568 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3934 p.G1314fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 95 0 0 51 9 15 RB1 0 genome.wustl.edu 37 13 49030368 49030368 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 49030368 49030368 A - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.1843 p.G617fs 1.000 NULL pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 76 0 0 57 14 19.7183 RBM26 0 genome.wustl.edu 37 13 79918807 79918807 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 13 79918807 79918807 T - DEL RBM26 ENST00000438724 human ensembl 74_37 -1 known frame_shift_del c.2109 p.K703fs 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 102 0 0 41 13 24.0741 YY1 0 genome.wustl.edu 37 14 100728644 100728644 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 100728644 100728644 A - DEL YY1 ENST00000262238 human ensembl 74_37 +1 known frame_shift_del c.683 p.D231fs 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 108 0 0 59 8 11.9403 LOC101929718 0 genome.wustl.edu 37 14 21464349 21464349 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 21464349 21464349 T - DEL LOC101929718 ENST00000557335 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-84C10.4 Clone_based_vega_gene ENSG00000258471 603 0 0 385 94 19.6242 HOMEZ 0 genome.wustl.edu 37 14 23745847 23745848 + Frame_Shift_Del DEL CT CT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 23745847 23745848 CT - DEL HOMEZ ENST00000431326 human ensembl 74_37 -1 known frame_shift_del c.596_595 p.H200fs 0.989:0.911 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 239 0 0 154 34 18.0851 ENSG00000270433 0 genome.wustl.edu 37 14 23764353 23764355 + RNA DEL AAA AAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 23764353 23764355 AAA - DEL ENSG00000270433 ENST00000604456 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002:0.007 - - - no_errors RP11-124D2.7 Clone_based_vega_gene ENSG00000270433 19 0 0 12 4 25 BAZ1A 0 genome.wustl.edu 37 14 35331423 35331423 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 35331423 35331423 T - DEL BAZ1A ENST00000360310 human ensembl 74_37 -1 known frame_shift_del c.219 p.A74fs 1.000 pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146 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 304 1 0.327869 204 39 16.0494 SEC23A 0 genome.wustl.edu 37 14 39508238 39508238 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 39508238 39508238 C - DEL SEC23A ENST00000307712 human ensembl 74_37 -1 known frame_shift_del c.2205 p.Q736fs 0.917 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,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 158 0 0 83 13 13.5417 C14orf28 0 genome.wustl.edu 37 14 45370057 45370058 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 45370057 45370058 - A INS C14orf28 ENST00000325192 human ensembl 74_37 +1 known frame_shift_ins c.419_420 p.N142fs 1.000:0.823 NULL NULL - no_errors C14orf28 HGNC ENSG00000179476 95 0 0 48 9 15.7895 PTGER2 0 genome.wustl.edu 37 14 52782002 52782002 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 52782002 52782002 G - DEL PTGER2 ENST00000245457 human ensembl 74_37 +1 known frame_shift_del c.736 p.A247fs 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 34 0 0 41 3 6.81818 GCH1 0 genome.wustl.edu 37 14 55310530 55310530 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 55310530 55310530 A - DEL GCH1 ENST00000543643 human ensembl 74_37 -1 novel frame_shift_del c.684 p.F228fs 0.972 NULL pfam_GTP_CycHdrlase_I_dom,tigrfam_GTP_CycHdrlase_I - no_errors GCH1 HGNC ENSG00000131979 198 0 0 122 21 14.6853 KTN1 0 genome.wustl.edu 37 14 56137475 56137475 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 56137475 56137475 A - DEL KTN1 ENST00000395309 human ensembl 74_37 +1 known frame_shift_del c.3296 p.K1101fs 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 149 0 0 95 14 12.844 OTX2 0 genome.wustl.edu 37 14 57271049 57271049 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 57271049 57271049 G - DEL OTX2 ENST00000339475 human ensembl 74_37 -1 known frame_shift_del c.130 p.R44fs 0.947 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 123 0 0 59 10 14.4928 KCNH5 0 genome.wustl.edu 37 14 63174303 63174303 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 63174303 63174303 G - DEL KCNH5 ENST00000322893 human ensembl 74_37 -1 known frame_shift_del c.2890 p.Q964fs 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 359 0 0 240 45 15.7895 ZFYVE26 0 genome.wustl.edu 37 14 68215185 68215185 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 68215185 68215185 G - DEL ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known frame_shift_del c.7588 p.R2530fs 0.116 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 94 0 0 61 10 14.0845 LTBP2 0 genome.wustl.edu 37 14 74967607 74967607 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 74967607 74967607 G - DEL LTBP2 ENST00000261978 human ensembl 74_37 -1 known frame_shift_del c.5446 p.H1816fs 0.817 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 93 0 0 64 20 23.8095 LTBP2 0 genome.wustl.edu 37 14 75017918 75017918 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 75017918 75017918 G - DEL LTBP2 ENST00000261978 human ensembl 74_37 -1 known frame_shift_del c.1535 p.P512fs 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 49 0 0 38 8 17.3913 UNC79 0 genome.wustl.edu 37 14 94088050 94088050 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 14 94088050 94088050 A - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.4537 p.K1515fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 141 0 0 83 22 20.9524 MAGEL2 0 genome.wustl.edu 37 15 23890894 23890894 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 23890894 23890894 G - DEL MAGEL2 ENST00000532292 human ensembl 74_37 -1 known frame_shift_del c.187 p.Q63fs 0.990 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 21 0 0 14 3 17.6471 ATP10A 0 genome.wustl.edu 37 15 25924712 25924712 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 25924712 25924712 G - DEL ATP10A ENST00000356865 human ensembl 74_37 -1 known frame_shift_del c.4276 p.L1426fs 0.001 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 146 0 0 86 12 12.2449 LOC101929232 0 genome.wustl.edu 37 15 29083887 29083887 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 29083887 29083887 A - DEL LOC101929232 ENST00000563144 human ensembl 74_37 +1 putative rna NULL NULL 0.999 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 86 0 0 52 16 23.5294 RYR3 0 genome.wustl.edu 37 15 34145819 34145819 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 34145819 34145819 A - DEL RYR3 ENST00000389232 human ensembl 74_37 +1 known frame_shift_del c.13735 p.N4580fs 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 86 0 0 77 12 13.4831 THBS1 0 genome.wustl.edu 37 15 39874929 39874929 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 39874929 39874929 G - DEL THBS1 ENST00000260356 human ensembl 74_37 +1 known frame_shift_del c.603 p.G203fs 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_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 THBS1 HGNC ENSG00000137801 90 0 0 68 6 8.10811 DISP2 0 genome.wustl.edu 37 15 40660037 40660038 + Frame_Shift_Ins INS - - G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 40660037 40660038 - G INS DISP2 ENST00000267889 human ensembl 74_37 +1 known frame_shift_ins c.1724_1725 p.L578fs 0.288:0.002 pfscan_SSD pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 65 0 0 32 2 5.88235 CASC5 0 genome.wustl.edu 37 15 40912976 40912977 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 40912976 40912977 - A INS CASC5 ENST00000346991 human ensembl 74_37 +1 known frame_shift_ins c.592_593 p.S200fs 0.731:0.820 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 141 0 0 84 13 13.4021 VPS18 0 genome.wustl.edu 37 15 41191837 41191837 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 41191837 41191837 C - DEL VPS18 ENST00000220509 human ensembl 74_37 +1 known frame_shift_del c.821 p.K276fs 1.000 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 211 0 0 134 20 12.987 TTBK2 0 genome.wustl.edu 37 15 43044817 43044817 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 43044817 43044817 T - DEL TTBK2 ENST00000267890 human ensembl 74_37 -1 known frame_shift_del c.2627 p.N876fs 0.081 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 TTBK2 HGNC ENSG00000128881 199 0 0 133 16 10.7383 TP53BP1 0 genome.wustl.edu 37 15 43748297 43748297 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 43748297 43748297 G - DEL TP53BP1 ENST00000382044 human ensembl 74_37 -1 known frame_shift_del c.2509 p.Q837fs 0.880 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 286 0 0 191 43 18.3761 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987963 + RNA DEL AAAA AAAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 51987960 51987963 AAAA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012:0.011:0.004 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 29 0 0 20 5 20 UNC13C 0 genome.wustl.edu 37 15 54527275 54527276 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 54527275 54527276 - A INS UNC13C ENST00000260323 human ensembl 74_37 +1 known frame_shift_ins c.3119_3120 p.T1043fs 1.000:1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 117 0 0 74 7 8.64198 TCF12 0 genome.wustl.edu 37 15 57489984 57489984 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 57489984 57489984 A - DEL TCF12 ENST00000438423 human ensembl 74_37 +1 known frame_shift_del c.540 p.V183fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 153 0 0 100 20 16.6667 NARG2 0 genome.wustl.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 60745782 60745782 A - DEL NARG2 ENST00000561114 human ensembl 74_37 -1 putative frame_shift_del c.1145 p.F382fs 0.000 NULL NULL - no_errors NARG2 HGNC ENSG00000128915 88 0 0 28 15 34.8837 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 395 0 0 221 57 20.5036 TIPIN 0 genome.wustl.edu 37 15 66672095 66672095 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 66672095 66672095 T - DEL TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors TIPIN HGNC ENSG00000075131 89 0 0 60 14 18.9189 C15orf39 0 genome.wustl.edu 37 15 75499804 75499804 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 75499804 75499804 C - DEL C15orf39 ENST00000360639 human ensembl 74_37 +1 known frame_shift_del c.1415 p.P474fs 0.848 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 130 0 0 96 6 5.88235 IL16 0 genome.wustl.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 81592162 81592164 CCT - DEL IL16 ENST00000302987 human ensembl 74_37 +1 known in_frame_del c.2495_2497 p.S836in_frame_del 0.001:0.004:0.009 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 100 0 0 69 4 5.47945 AKAP13 0 genome.wustl.edu 37 15 86287017 86287017 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 86287017 86287017 A - DEL AKAP13 ENST00000361243 human ensembl 74_37 +1 known frame_shift_del c.8365 p.K2791fs 0.995 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 96 0 0 71 7 8.97436 BLM 0 genome.wustl.edu 37 15 91304139 91304139 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 91304139 91304139 A - DEL BLM ENST00000355112 human ensembl 74_37 +1 known frame_shift_del c.1536 p.N515fs 0.003 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 149 1 0.666667 85 24 22.0183 C15orf32 0 genome.wustl.edu 37 15 93015505 93015505 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 93015505 93015505 C - DEL C15orf32 ENST00000333334 human ensembl 74_37 +1 known frame_shift_del c.127 p.P44fs 0.002 NULL NULL - no_errors C15orf32 HGNC ENSG00000183643 243 0 0 161 24 12.973 CHD2 0 genome.wustl.edu 37 15 93480819 93480819 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 15 93480819 93480819 A - DEL CHD2 ENST00000420239 human ensembl 74_37 +1 known frame_shift_del c.515 p.V175fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 55 0 0 29 15 34.0909 TVP23A 0 genome.wustl.edu 37 16 10867203 10867204 + Frame_Shift_Del DEL AA AA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 10867203 10867204 AA - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420_419 p.F140fs 1.000:1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 122 0 0 79 27 25.4717 KNOP1 0 genome.wustl.edu 37 16 19725706 19725706 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 19725706 19725706 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.652 p.I218fs 0.397 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 209 1 0.47619 160 57 26.2673 TNRC6A 0 genome.wustl.edu 37 16 24762058 24762060 + In_Frame_Del DEL AAG AAG - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 24762058 24762060 AAG - DEL TNRC6A ENST00000395799 human ensembl 74_37 +1 known in_frame_del c.65_67 p.E25in_frame_del 1.000:1.000:1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 151 0 0 114 30 20.8333 INO80E 0 genome.wustl.edu 37 16 30007665 30007665 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 30007665 30007665 A - DEL INO80E ENST00000563197 human ensembl 74_37 +1 known frame_shift_del c.34 p.K14fs 1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 16 0 0 9 4 30.7692 INO80E 0 genome.wustl.edu 37 16 30016653 30016653 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 8 0 0 8 4 33.3333 SLX4 0 genome.wustl.edu 37 16 3652290 3652290 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 3652290 3652290 G - DEL SLX4 ENST00000294008 human ensembl 74_37 -1 known frame_shift_del c.779 p.P260fs 0.015 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 255 0 0 210 18 7.89474 CREBBP 0 genome.wustl.edu 37 16 3777898 3777898 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 3777898 3777898 G - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.7150 p.H2384fs 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 229 0 0 167 46 21.5962 DKFZP434H168 0 genome.wustl.edu 37 16 56226639 56226642 + RNA DEL CACA CACA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CACA CACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 56226639 56226642 CACA - DEL DKFZP434H168 ENST00000567381 human ensembl 74_37 -1 known rna NULL NULL 0.271:0.327:0.946:0.970 - - - no_errors CTD-2050B12.2 Clone_based_vega_gene ENSG00000261439 11 0 0 12 6 33.3333 OGFOD1 0 genome.wustl.edu 37 16 56485630 56485630 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 56485630 56485630 A - DEL OGFOD1 ENST00000566157 human ensembl 74_37 +1 known frame_shift_del c.106 p.K37fs 1.000 NULL pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 94 0 0 80 28 25.9259 WWP2 0 genome.wustl.edu 37 16 69959257 69959257 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 69959257 69959257 T - DEL WWP2 ENST00000568185 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WWP2 HGNC ENSG00000198373 497 1 0.200803 438 91 17.2023 CFDP1 0 genome.wustl.edu 37 16 75327732 75327732 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 75327732 75327732 A - DEL CFDP1 ENST00000570103 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 10 0 0 12 3 20 BANP 0 genome.wustl.edu 37 16 88014616 88014616 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 88014616 88014616 T - DEL BANP ENST00000474563 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors BANP HGNC ENSG00000172530 47 0 0 40 14 25.9259 TCF25 0 genome.wustl.edu 37 16 89951020 89951020 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 16 89951020 89951020 A - DEL TCF25 ENST00000263346 human ensembl 74_37 +1 known frame_shift_del c.385 p.K131fs 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 52 0 0 35 9 20.4545 NT5M 0 genome.wustl.edu 37 17 17250190 17250190 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 17250190 17250190 C - DEL NT5M ENST00000389022 human ensembl 74_37 +1 known frame_shift_del c.616 p.R208fs 1.000 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 80 0 0 58 10 14.7059 MYO15A 0 genome.wustl.edu 37 17 18023293 18023293 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 18023293 18023293 C - DEL MYO15A ENST00000205890 human ensembl 74_37 +1 known frame_shift_del c.1179 p.E396fs 0.850 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 125 0 0 86 11 11.3402 CLUH 0 genome.wustl.edu 37 17 2601713 2601713 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 2601713 2601713 C - DEL CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_del c.1324 p.D442fs 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 94 0 0 56 10 15.1515 CRYBA1 0 genome.wustl.edu 37 17 27577216 27577218 + In_Frame_Del DEL AGG AGG - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 27577216 27577218 AGG - DEL CRYBA1 ENST00000225387 human ensembl 74_37 +1 known in_frame_del c.113_115 p.E39in_frame_del 1.000:1.000:1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA1 HGNC ENSG00000108255 124 0 0 84 14 14.2857 NSRP1 0 genome.wustl.edu 37 17 28505167 28505167 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 28505167 28505167 A - DEL NSRP1 ENST00000247026 human ensembl 74_37 +1 known frame_shift_del c.250 p.K86fs 1.000 pfam_DUF2040 pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 139 0 0 68 18 20.9302 SLFN12 0 genome.wustl.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 33749493 33749493 A - DEL SLFN12 ENST00000304905 human ensembl 74_37 -1 known frame_shift_del c.555 p.F185fs 0.080 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 185 0 0 124 25 16.7785 HOXB3 0 genome.wustl.edu 37 17 46629737 46629737 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 46629737 46629737 G - DEL HOXB3 ENST00000311626 human ensembl 74_37 -1 known frame_shift_del c.100 p.Q34fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 77 0 0 50 12 19.3548 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 135 0 0 91 14 13.3333 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 4875738 4875738 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.2666 p.P889fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 44 0 0 32 7 17.9487 SCPEP1 0 genome.wustl.edu 37 17 55078244 55078246 + In_Frame_Del DEL GGA GGA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 55078244 55078246 GGA - DEL SCPEP1 ENST00000262288 human ensembl 74_37 +1 known in_frame_del c.1023_1025 p.E343in_frame_del 1.000:0.998:0.928 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC ENSG00000121064 128 0 0 81 17 17.3469 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 305 0 0 194 16 7.61905 TEX14 0 genome.wustl.edu 37 17 56642289 56642289 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 56642289 56642289 T - DEL TEX14 ENST00000240361 human ensembl 74_37 -1 known frame_shift_del c.4143 p.E1382fs 0.956 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 183 0 0 116 18 13.4328 TBX4 0 genome.wustl.edu 37 17 59560345 59560345 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 59560345 59560345 C - DEL TBX4 ENST00000393853 human ensembl 74_37 +1 known frame_shift_del c.1109 p.P372fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 79 0 0 49 4 7.54717 MIR633 0 genome.wustl.edu 37 17 61021673 61021673 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 61021673 61021673 A - DEL MIR633 ENST00000384821 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR633 HGNC ENSG00000207552 23 0 0 6 6 50 DDX5 0 genome.wustl.edu 37 17 62496298 62496298 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 62496298 62496298 T - DEL DDX5 ENST00000225792 human ensembl 74_37 -1 known frame_shift_del c.1588 p.T530fs 1.000 pfam_P68HR pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 480 0 0 261 67 20.4268 SLC16A6 0 genome.wustl.edu 37 17 66270149 66270150 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 66270149 66270150 - C INS SLC16A6 ENST00000327268 human ensembl 74_37 -1 known frame_shift_ins c.295_294 p.L98fs 0.030:0.006 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 114 0 0 54 5 8.47458 ABCA5 0 genome.wustl.edu 37 17 67260957 67260957 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 67260957 67260957 A - DEL ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_del c.3237 p.F1079fs 0.503 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 69 0 0 37 6 13.9535 ITGB4 0 genome.wustl.edu 37 17 73738521 73738521 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 73738521 73738521 C - DEL ITGB4 ENST00000200181 human ensembl 74_37 +1 known frame_shift_del c.2733 p.H912fs 1.000 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 41 0 0 22 6 21.4286 GAA 0 genome.wustl.edu 37 17 78091429 78091429 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 78091429 78091429 C - DEL GAA ENST00000302262 human ensembl 74_37 +1 known frame_shift_del c.2362 p.P789fs 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 88 0 0 60 8 11.7647 ARL16 0 genome.wustl.edu 37 17 79650094 79650094 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 79650094 79650094 C - DEL ARL16 ENST00000397498 human ensembl 74_37 -1 known frame_shift_del c.255 p.C86fs 0.326 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 - no_errors ARL16 HGNC ENSG00000214087 319 0 0 226 33 12.7413 P4HB 0 genome.wustl.edu 37 17 79803764 79803764 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 79803764 79803764 T - DEL P4HB ENST00000331483 human ensembl 74_37 -1 known frame_shift_del c.1160 p.N387fs 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 50 0 0 44 7 13.7255 FASN 0 genome.wustl.edu 37 17 80049540 80049540 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 17 80049540 80049540 G - DEL FASN ENST00000306749 human ensembl 74_37 -1 known frame_shift_del c.1050 p.H350fs 0.854 pfam_Ketoacyl_synth_C,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 12 0 0 7 2 22.2222 POTEC 0 genome.wustl.edu 37 18 14542696 14542697 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 14542696 14542697 - C INS POTEC ENST00000358970 human ensembl 74_37 -1 known frame_shift_ins c.450_449 p.K151fs 0.000:0.002 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 281 0 0 202 41 16.8724 OSBPL1A 0 genome.wustl.edu 37 18 21745097 21745097 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 21745097 21745097 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2682 p.K894fs 0.958 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 327 0 0 280 41 12.7726 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 113 0 0 70 15 17.6471 DLGAP1 0 genome.wustl.edu 37 18 3879415 3879415 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 3879415 3879415 G - DEL DLGAP1 ENST00000315677 human ensembl 74_37 -1 known frame_shift_del c.654 p.S219fs 0.794 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 311 0 0 224 51 18.5455 SYT4 0 genome.wustl.edu 37 18 40857246 40857246 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 40857246 40857246 T - DEL SYT4 ENST00000255224 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 115 0 0 71 18 20.2247 MBD2 0 genome.wustl.edu 37 18 51750459 51750459 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 51750459 51750459 G - DEL MBD2 ENST00000256429 human ensembl 74_37 -1 known frame_shift_del c.471 p.G158fs 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 35 0 0 40 4 9.09091 WDR7 0 genome.wustl.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 54358513 54358513 G - DEL WDR7 ENST00000254442 human ensembl 74_37 +1 known frame_shift_del c.784 p.D264fs 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 245 0 0 174 12 6.45161 LMAN1 0 genome.wustl.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 18 57013285 57013285 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_del c.823-2 e8-2 1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 212 1 0.469484 134 29 17.7914 ICAM1 0 genome.wustl.edu 37 19 10381850 10381850 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 10381850 10381850 C - DEL ICAM1 ENST00000264832 human ensembl 74_37 +1 known frame_shift_del c.15 p.R7fs 0.001 pfam_ICAM_N pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 35 0 0 40 7 14.8936 FDX1L 0 genome.wustl.edu 37 19 10426107 10426107 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 10426107 10426107 C - DEL FDX1L ENST00000393708 human ensembl 74_37 -1 known frame_shift_del c.262 p.D88fs 1.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin - no_errors FDX1L HGNC ENSG00000267673 60 0 0 42 10 19.2308 ICAM3 0 genome.wustl.edu 37 19 10446011 10446011 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 10446011 10446011 G - DEL ICAM3 ENST00000160262 human ensembl 74_37 -1 known frame_shift_del c.668 p.P223fs 0.000 NULL pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 62 0 0 35 6 14.6341 ELAVL3 0 genome.wustl.edu 37 19 11577605 11577605 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 11577605 11577605 C - DEL ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_del c.47 p.G16fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 47 0 0 20 5 20 ZNF69 0 genome.wustl.edu 37 19 12016725 12016726 + Frame_Shift_Del DEL CT CT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 12016725 12016726 CT - DEL ZNF69 ENST00000429654 human ensembl 74_37 +1 known frame_shift_del c.1513_1514 p.Y506fs 0.894:0.628 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 ZNF69 HGNC ENSG00000198429 101 0 0 59 21 26.25 PKN1 0 genome.wustl.edu 37 19 14562740 14562741 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 14562740 14562741 - C INS PKN1 ENST00000342216 human ensembl 74_37 +1 known frame_shift_ins c.1088_1089 p.F366fs 0.996:0.060 superfamily_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 36 0 0 41 4 8.88889 NOTCH3 0 genome.wustl.edu 37 19 15302821 15302821 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 15302821 15302821 C - DEL NOTCH3 ENST00000263388 human ensembl 74_37 -1 known frame_shift_del c.629 p.G210fs 1.000 pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 96 0 0 58 7 10.7692 SUGP2 0 genome.wustl.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 19136394 19136394 T - DEL SUGP2 ENST00000337018 human ensembl 74_37 -1 known frame_shift_del c.763 p.I255fs 0.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 278 1 0.358423 195 32 14.0969 ZNF30 0 genome.wustl.edu 37 19 35435665 35435665 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 35435665 35435665 A - DEL ZNF30 ENST00000303586 human ensembl 74_37 +1 known frame_shift_del c.1798 p.K601fs 0.005 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF30 HGNC ENSG00000168661 46 0 0 20 8 28.5714 ENSG00000269553 0 genome.wustl.edu 37 19 35822750 35822750 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 35822750 35822750 A - DEL ENSG00000269553 ENST00000597110 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors U62631.5 Clone_based_vega_gene ENSG00000269553 23 0 0 10 9 47.3684 ARHGAP33 0 genome.wustl.edu 37 19 36271669 36271669 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 36271669 36271669 C - DEL ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known frame_shift_del c.780 p.P262fs 0.073 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 252 0 0 156 30 16.129 FAM98C 0 genome.wustl.edu 37 19 38899416 38899416 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 38899416 38899416 G - DEL FAM98C ENST00000252530 human ensembl 74_37 +1 known frame_shift_del c.944 p.G317fs 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 219 1 0.454545 127 17 11.8056 SARS2 0 genome.wustl.edu 37 19 39408593 39408593 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 39408593 39408593 G - DEL SARS2 ENST00000600042 human ensembl 74_37 -1 known frame_shift_del c.1024 p.R342fs 0.671 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 29 0 0 16 3 15.7895 DYRK1B 0 genome.wustl.edu 37 19 40316612 40316612 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 40316612 40316612 G - DEL DYRK1B ENST00000323039 human ensembl 74_37 -1 known frame_shift_del c.1633 p.Q545fs 0.436 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 DYRK1B HGNC ENSG00000105204 122 0 0 82 5 5.74713 CIC 0 genome.wustl.edu 37 19 42797376 42797376 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 42797376 42797376 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.3738 p.P1248fs 0.989 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 20 0 0 10 3 23.0769 MEGF8 0 genome.wustl.edu 37 19 42847703 42847703 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 42847703 42847703 G - DEL MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_del c.1588 p.Y532fs 1.000 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 90 0 0 43 6 12.2449 ZNF233 0 genome.wustl.edu 37 19 44778628 44778629 + Frame_Shift_Del DEL AT AT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 44778628 44778629 AT - DEL ZNF233 ENST00000391958 human ensembl 74_37 +1 known frame_shift_del c.1815_1816 p.Y606fs 0.000:0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 206 0 0 124 28 18.4211 FBXO46 0 genome.wustl.edu 37 19 46215483 46215483 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 46215483 46215483 G - DEL FBXO46 ENST00000317683 human ensembl 74_37 -1 known frame_shift_del c.1271 p.P424fs 0.987 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 31 0 0 16 4 20 ARHGAP35 0 genome.wustl.edu 37 19 47422590 47422590 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 47422590 47422590 A - DEL ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known frame_shift_del c.658 p.K221fs 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 119 0 0 85 12 12.3711 BCL2L12 0 genome.wustl.edu 37 19 50173596 50173596 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 50173596 50173596 C - DEL BCL2L12 ENST00000246785 human ensembl 74_37 +1 known frame_shift_del c.805 p.P270fs 0.809 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 17 0 0 10 3 23.0769 MYBPC2 0 genome.wustl.edu 37 19 50957531 50957532 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 50957531 50957532 - C INS MYBPC2 ENST00000357701 human ensembl 74_37 +1 known frame_shift_ins c.1919_1920 p.E643fs 1.000:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 61 0 0 43 15 25.8621 SHANK1 0 genome.wustl.edu 37 19 51192559 51192559 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 51192559 51192559 G - DEL SHANK1 ENST00000391813 human ensembl 74_37 -1 known frame_shift_del c.103 p.H35fs 0.020 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK1 HGNC ENSG00000161681 115 0 0 69 14 16.8675 LILRB1 0 genome.wustl.edu 37 19 55143507 55143509 + In_Frame_Del DEL AGA AGA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 55143507 55143509 AGA - DEL LILRB1 ENST00000324602 human ensembl 74_37 +1 known in_frame_del c.480_482 p.E161in_frame_del 0.006:0.004:0.002 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 199 0 0 137 23 14.375 ZIM3 0 genome.wustl.edu 37 19 57647457 57647457 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 57647457 57647457 T - DEL ZIM3 ENST00000269834 human ensembl 74_37 -1 known frame_shift_del c.248 p.N83fs 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM3 HGNC ENSG00000141946 272 0 0 163 20 10.929 VN1R1 0 genome.wustl.edu 37 19 57967320 57967320 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 57967320 57967320 G - DEL VN1R1 ENST00000321039 human ensembl 74_37 -1 known frame_shift_del c.535 p.H179fs 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 120 0 0 86 11 11.3402 CD70 0 genome.wustl.edu 37 19 6586380 6586380 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 19 6586380 6586380 C - DEL CD70 ENST00000245903 human ensembl 74_37 -1 known frame_shift_del c.233 p.G78fs 0.022 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors CD70 HGNC ENSG00000125726 69 0 0 41 5 10.8696 PTPN4 0 genome.wustl.edu 37 2 120677773 120677773 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 120677773 120677773 T - DEL PTPN4 ENST00000263708 human ensembl 74_37 +1 known frame_shift_del c.957 p.F321fs 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 290 0 0 179 29 13.9423 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 79 0 0 46 23 33.3333 CCDC74B 0 genome.wustl.edu 37 2 130897852 130897852 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 130897852 130897852 G - DEL CCDC74B ENST00000392984 human ensembl 74_37 -1 known frame_shift_del c.1082 p.P361fs 0.000 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 271 1 0.367647 206 45 17.9283 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 263 0 0 94 55 36.9128 EPC2 0 genome.wustl.edu 37 2 149447829 149447829 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 149447829 149447829 A - DEL EPC2 ENST00000258484 human ensembl 74_37 +1 known frame_shift_del c.200 p.E70fs 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 114 0 0 73 23 23.9583 RIF1 0 genome.wustl.edu 37 2 152320541 152320541 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 152320541 152320541 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.4507 p.K1505fs 0.001 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 175 1 0.568182 93 13 12.2642 SNORA70F 0 genome.wustl.edu 37 2 165544246 165544246 + RNA DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 165544246 165544246 C - DEL SNORA70F ENST00000384142 human ensembl 74_37 -1 known rna NULL NULL 0.314 - - - no_errors SNORA70F HGNC ENSG00000206869 22 0 0 12 2 14.2857 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 97 0 0 53 17 24.2857 NOSTRIN 0 genome.wustl.edu 37 2 169699563 169699563 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 169699563 169699563 A - DEL NOSTRIN ENST00000444448 human ensembl 74_37 +1 known frame_shift_del c.566 p.N191fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 109 0 0 61 13 17.5676 PPIG 0 genome.wustl.edu 37 2 170493804 170493804 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 170493804 170493804 A - DEL PPIG ENST00000260970 human ensembl 74_37 +1 known frame_shift_del c.2036 p.K681fs 0.885 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 89 0 0 51 11 17.7419 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 20 0 0 19 5 20.8333 CIR1 0 genome.wustl.edu 37 2 175213713 175213713 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 131 0 0 104 18 14.7541 TTN 0 genome.wustl.edu 37 2 179485716 179485716 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 179485716 179485716 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.37917 p.K12639fs 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 87 0 0 47 8 14.5455 TMEFF2 0 genome.wustl.edu 37 2 193049182 193049183 + Frame_Shift_Del DEL CA CA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 193049182 193049183 CA - DEL TMEFF2 ENST00000272771 human ensembl 74_37 -1 known frame_shift_del c.310_309 p.C103fs 1.000:1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 89 0 0 49 5 9.25926 DNAH7 0 genome.wustl.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 196788374 196788374 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.3770 p.N1257fs 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 124 1 0.8 76 16 17.3913 DNAH7 0 genome.wustl.edu 37 2 196866535 196866535 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 196866535 196866535 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.1037 p.K346fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 105 0 0 60 13 17.8082 CD28 0 genome.wustl.edu 37 2 204591543 204591543 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 204591543 204591543 A - DEL CD28 ENST00000324106 human ensembl 74_37 +1 known frame_shift_del c.240 p.T82fs 0.053 pfam_Ig_V-set,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28 - no_errors CD28 HGNC ENSG00000178562 179 0 0 95 21 18.1034 PARD3B 0 genome.wustl.edu 37 2 205990401 205990401 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 205990401 205990401 G - DEL PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_del c.1374 p.E460fs 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 229 0 0 136 28 17.0732 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 65 0 0 50 6 10.7143 KANSL1L 0 genome.wustl.edu 37 2 210887680 210887680 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 210887680 210887680 T - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.2957 p.N986fs 0.980 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 88 0 0 48 15 23.8095 TNS1 0 genome.wustl.edu 37 2 218683042 218683043 + Frame_Shift_Ins INS - - G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 218683042 218683043 - G INS TNS1 ENST00000171887 human ensembl 74_37 -1 known frame_shift_ins c.3701_3700 p.Q1234fs 0.324:1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 41 0 0 29 5 14.7059 MAPRE3 0 genome.wustl.edu 37 2 27248479 27248479 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 27248479 27248479 A - DEL MAPRE3 ENST00000233121 human ensembl 74_37 +1 known frame_shift_del c.498 p.N168fs 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 160 0 0 96 16 14.2857 C2orf71 0 genome.wustl.edu 37 2 29294162 29294162 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 29294162 29294162 G - DEL C2orf71 ENST00000331664 human ensembl 74_37 -1 known frame_shift_del c.2966 p.P989fs 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 117 0 0 93 14 13.0841 RMDN2 0 genome.wustl.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 38178783 38178783 T - DEL RMDN2 ENST00000234195 human ensembl 74_37 +1 known frame_shift_del c.425 p.F144fs 0.000 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 177 0 0 87 15 14.7059 CDKL4 0 genome.wustl.edu 37 2 39456572 39456572 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 39456572 39456572 T - DEL CDKL4 ENST00000378803 human ensembl 74_37 -1 known frame_shift_del c.102 p.K34fs 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 CDKL4 HGNC ENSG00000205111 179 0 0 111 32 22.3776 SLC8A1 0 genome.wustl.edu 37 2 40656343 40656343 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 40656343 40656343 T - DEL SLC8A1 ENST00000332839 human ensembl 74_37 -1 known frame_shift_del c.1078 p.S360fs 1.000 pfscan_DnaJ_domain,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 283 1 0.352113 166 38 18.6275 RHOQ 0 genome.wustl.edu 37 2 46808174 46808174 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 46808174 46808174 A - DEL RHOQ ENST00000238738 human ensembl 74_37 +1 known frame_shift_del c.570 p.R193fs 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOQ HGNC ENSG00000119729 166 0 0 118 17 12.5926 GPR75 0 genome.wustl.edu 37 2 54081175 54081175 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 54081175 54081175 G - DEL GPR75 ENST00000394705 human ensembl 74_37 -1 known frame_shift_del c.719 p.P240fs 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR75 HGNC ENSG00000119737 128 0 0 90 15 14.2857 CCDC88A 0 genome.wustl.edu 37 2 55561645 55561646 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 55561645 55561646 - T INS CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_ins c.2312_2311 p.T771fs 1.000:1.000 superfamily_Prefoldin pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 188 0 0 82 14 14.5833 CCDC88A 0 genome.wustl.edu 37 2 55561755 55561755 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 55561755 55561755 T - DEL CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_del c.2202 p.E735fs 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 217 0 0 111 14 11.2 C2orf42 0 genome.wustl.edu 37 2 70392682 70392682 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 2 70392682 70392682 T - DEL C2orf42 ENST00000264434 human ensembl 74_37 -1 known frame_shift_del c.1230 p.K410fs 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 143 0 0 93 15 13.8889 DSTN 0 genome.wustl.edu 37 20 17581680 17581680 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 17581680 17581680 T - DEL DSTN ENST00000246069 human ensembl 74_37 +1 known frame_shift_del c.301 p.L103fs 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 140 1 0.70922 100 18 15.2542 BPIFB4 0 genome.wustl.edu 37 20 31671214 31671214 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 31671214 31671214 C - DEL BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_del c.211 p.P73fs 0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 221 1 0.45045 131 28 17.6101 SNX21 0 genome.wustl.edu 37 20 44469907 44469908 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 44469907 44469908 - C INS SNX21 ENST00000491381 human ensembl 74_37 +1 known frame_shift_ins c.1077_1078 p.S361fs 0.996:1.000 NULL pfam_Phox,pfam_TPR_1,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX21 HGNC ENSG00000124104 285 1 0.34965 197 34 14.7186 SPATA25 0 genome.wustl.edu 37 20 44515248 44515248 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 44515248 44515248 C - DEL SPATA25 ENST00000372519 human ensembl 74_37 -1 known frame_shift_del c.592 p.A198fs 0.068 NULL NULL - no_errors SPATA25 HGNC ENSG00000149634 199 0 0 129 20 13.4228 SULF2 0 genome.wustl.edu 37 20 46290538 46290538 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 46290538 46290538 G - DEL SULF2 ENST00000359930 human ensembl 74_37 -1 known frame_shift_del c.2473 p.R825fs 1.000 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 262 0 0 186 21 10.1449 STAU1 0 genome.wustl.edu 37 20 47739699 47739699 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 47739699 47739699 T - DEL STAU1 ENST00000371856 human ensembl 74_37 -1 known frame_shift_del c.896 p.K299fs 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 88 0 0 56 17 23.2877 DDX27 0 genome.wustl.edu 37 20 47860465 47860465 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 47860465 47860465 A - DEL DDX27 ENST00000471144 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DDX27 HGNC ENSG00000124228 28 0 0 13 8 38.0952 FAM65C 0 genome.wustl.edu 37 20 49203727 49203727 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 49203727 49203727 A - DEL FAM65C ENST00000462842 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors FAM65C HGNC ENSG00000042062 47 0 0 28 8 22.2222 ADNP 0 genome.wustl.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 49508204 49508204 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.3047 p.K1016fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 214 1 0.465116 149 33 18.1319 ADNP 0 genome.wustl.edu 37 20 49509399 49509400 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 49509399 49509400 - T INS ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_ins c.1852_1851 p.D617fs 1.000:0.985 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 470 0 0 293 83 22.0745 CASS4 0 genome.wustl.edu 37 20 55012423 55012423 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 55012423 55012423 C - DEL CASS4 ENST00000360314 human ensembl 74_37 +1 known frame_shift_del c.240 p.P82fs 0.000 superfamily_SH3_domain pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 92 0 0 60 11 15.493 ZNF831 0 genome.wustl.edu 37 20 57769140 57769140 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 57769140 57769140 G - DEL ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_del c.3066 p.D1025fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 66 0 0 28 15 34.8837 CDH26 0 genome.wustl.edu 37 20 58587784 58587784 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 58587784 58587784 A - DEL CDH26 ENST00000348616 human ensembl 74_37 +1 known frame_shift_del c.2498 p.*833fs 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 77 0 0 50 13 20.6349 BMP2 0 genome.wustl.edu 37 20 6759174 6759174 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 20 6759174 6759174 C - DEL BMP2 ENST00000378827 human ensembl 74_37 +1 known frame_shift_del c.629 p.A212fs 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 78 0 0 52 7 11.8644 TPTE 0 genome.wustl.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 10944697 10944697 A - DEL TPTE ENST00000361285 human ensembl 74_37 -1 known frame_shift_del c.537 p.F179fs 0.335 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 312 1 0.319489 197 22 10.0457 PAXBP1 0 genome.wustl.edu 37 21 34131467 34131467 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 34131467 34131467 C - DEL PAXBP1 ENST00000331923 human ensembl 74_37 -1 known frame_shift_del c.1307 p.G436fs 1.000 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 454 0 0 233 34 12.7341 TTC3 0 genome.wustl.edu 37 21 38524243 38524243 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 21 38524243 38524243 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327 p.E779fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 94 0 0 61 16 20.7792 CCT8L2 0 genome.wustl.edu 37 22 17073164 17073165 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 17073164 17073165 - T INS CCT8L2 ENST00000359963 human ensembl 74_37 -1 known frame_shift_ins c.277_276 p.A92fs 0.107:0.106 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 83 0 0 39 7 15.2174 ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17140438 17140438 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 17140438 17140438 T - DEL ANKRD62P1-PARP4P3 ENST00000456726 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 100 0 0 58 12 17.1429 MICAL3 0 genome.wustl.edu 37 22 18367052 18367052 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 18367052 18367052 G - DEL MICAL3 ENST00000207726 human ensembl 74_37 -1 known frame_shift_del c.2314 p.R772fs 0.998 NULL 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 46 0 0 36 9 20 SPECC1L 0 genome.wustl.edu 37 22 24726351 24726351 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 24726351 24726351 A - DEL SPECC1L ENST00000314328 human ensembl 74_37 +1 known frame_shift_del c.2348 p.N785fs 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 313 0 0 187 30 13.8249 OSBP2 0 genome.wustl.edu 37 22 31289119 31289120 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 31289119 31289120 - C INS OSBP2 ENST00000332585 human ensembl 74_37 +1 known frame_shift_ins c.1880_1881 p.S630fs 1.000:1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 75 0 0 48 6 11.1111 LIMK2 0 genome.wustl.edu 37 22 31672777 31672777 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 31672777 31672777 C - DEL LIMK2 ENST00000340552 human ensembl 74_37 +1 putative frame_shift_del c.1712 p.575fs 0.996 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_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 23 0 0 12 5 29.4118 BPIFC 0 genome.wustl.edu 37 22 32831829 32831829 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 32831829 32831829 G - DEL BPIFC ENST00000300399 human ensembl 74_37 -1 known frame_shift_del c.786 p.F263fs 0.148 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 154 0 0 77 8 9.41176 SYN3 0 genome.wustl.edu 37 22 32924871 32924872 + Frame_Shift_Ins INS - - G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 32924871 32924872 - G INS SYN3 ENST00000332840 human ensembl 74_37 -1 known frame_shift_ins c.1220_1219 p.L407fs 1.000:1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 89 0 0 40 9 18.3673 FAM109B 0 genome.wustl.edu 37 22 42473377 42473377 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 42473377 42473377 G - DEL FAM109B ENST00000321753 human ensembl 74_37 +1 known frame_shift_del c.80 p.G29fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 206 1 0.483092 105 24 18.6047 TSPO 0 genome.wustl.edu 37 22 43557100 43557101 + Frame_Shift_Del DEL AG AG - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 22 43557100 43557101 AG - DEL TSPO ENST00000329563 human ensembl 74_37 +1 known frame_shift_del c.225_226 p.K77fs 0.040:0.980 pfam_TspO_MBR,pirsf_TspO_MBR pfam_TspO_MBR,pirsf_TspO_MBR - no_errors TSPO HGNC ENSG00000100300 120 0 0 64 9 12.3288 PVRL3 0 genome.wustl.edu 37 3 110852822 110852822 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 110852822 110852822 A - DEL PVRL3 ENST00000485303 human ensembl 74_37 +1 known frame_shift_del c.1410 p.E473fs 0.999 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 79 0 0 41 17 29.3103 EAF2 0 genome.wustl.edu 37 3 121573634 121573634 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 121573634 121573634 A - DEL EAF2 ENST00000273668 human ensembl 74_37 +1 known frame_shift_del c.302 p.K102fs 1.000 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 118 0 0 86 10 10.4167 ABTB1 0 genome.wustl.edu 37 3 127396115 127396115 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 127396115 127396115 C - DEL ABTB1 ENST00000232744 human ensembl 74_37 +1 known frame_shift_del c.748 p.E252fs 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 21 0 0 16 4 20 DNAJC13 0 genome.wustl.edu 37 3 132224254 132224254 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 132224254 132224254 A - DEL DNAJC13 ENST00000260818 human ensembl 74_37 +1 known frame_shift_del c.4993 p.G1667fs 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 43 0 0 39 6 13.3333 ACKR4 0 genome.wustl.edu 37 3 132319752 132319752 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 132319752 132319752 C - DEL ACKR4 ENST00000249887 human ensembl 74_37 +1 known frame_shift_del c.511 p.Q172fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCRL1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR4 HGNC ENSG00000129048 86 0 0 66 16 19.5122 SLC35G2 0 genome.wustl.edu 37 3 136573873 136573873 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 136573873 136573873 C - DEL SLC35G2 ENST00000393079 human ensembl 74_37 +1 known frame_shift_del c.571 p.S192fs 1.000 pfam_DMT pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 236 0 0 160 32 16.6667 DZIP1L 0 genome.wustl.edu 37 3 137811279 137811279 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 137811279 137811279 T - DEL DZIP1L ENST00000327532 human ensembl 74_37 -1 known frame_shift_del c.816 p.K272fs 0.005 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 248 0 0 172 25 12.6904 DBR1 0 genome.wustl.edu 37 3 137880738 137880739 + In_Frame_Ins INS - - CAT TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 137880738 137880739 - CAT INS DBR1 ENST00000260803 human ensembl 74_37 -1 known in_frame_ins c.1628_1627 p.543in_frame_insD 0.000:0.038 NULL pfam_DBR1_C,pfam_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 257 0 0 174 35 16.7464 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184164 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 142184164 142184164 A - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 22 0 0 17 16 48.4848 NR2C2 0 genome.wustl.edu 37 3 15084406 15084406 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 15084406 15084406 T - DEL NR2C2 ENST00000323373 human ensembl 74_37 +1 known frame_shift_del c.1739 p.F582fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 75 0 0 43 8 15.6863 B3GNT5 0 genome.wustl.edu 37 3 182987655 182987655 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 182987655 182987655 T - DEL B3GNT5 ENST00000326505 human ensembl 74_37 +1 known frame_shift_del c.69 p.L25fs 0.998 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 194 0 0 138 28 16.8675 ABCC5 0 genome.wustl.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 183665257 183665257 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.3269 p.L1090fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 51 0 0 54 14 20.5882 FETUB 0 genome.wustl.edu 37 3 186362544 186362545 + Frame_Shift_Del DEL AA AA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 186362544 186362545 AA - DEL FETUB ENST00000265029 human ensembl 74_37 +1 known frame_shift_del c.429_430 p.K146fs 0.854:0.006 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 298 0 0 162 73 31.0638 PAK2 0 genome.wustl.edu 37 3 196537509 196537509 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 196537509 196537509 A - DEL PAK2 ENST00000327134 human ensembl 74_37 +1 known frame_shift_del c.758 p.I255fs 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_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK2 HGNC ENSG00000180370 125 0 0 75 11 12.7907 PIGZ 0 genome.wustl.edu 37 3 196674360 196674360 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 196674360 196674360 G - DEL PIGZ ENST00000412723 human ensembl 74_37 -1 known frame_shift_del c.1408 p.R470fs 0.997 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 93 0 0 88 15 14.5631 FYTTD1 0 genome.wustl.edu 37 3 197505337 197505338 + Splice_Site INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 197505337 197505338 - A INS FYTTD1 ENST00000241502 human ensembl 74_37 +1 known splice_site_ins c.858+2_858+1 e8+2 1.000:0.999 - - - no_errors FYTTD1 HGNC ENSG00000122068 105 0 0 90 5 5.26316 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838276 + RNA DEL AAA AAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 197838274 197838276 AAA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 36 0 0 35 5 12.5 SGOL1 0 genome.wustl.edu 37 3 20215937 20215939 + In_Frame_Del DEL GTT GTT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 20215937 20215939 GTT - DEL SGOL1 ENST00000263753 human ensembl 74_37 -1 known in_frame_del c.1086_1084 p.N362in_frame_del 0.000:0.000:0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 174 0 0 135 16 10.596 HMGB1P5 0 genome.wustl.edu 37 3 22423968 22423968 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 22423968 22423968 T - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 75 0 0 44 20 31.25 CLASP2 0 genome.wustl.edu 37 3 33686903 33686903 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 33686903 33686903 A - DEL CLASP2 ENST00000476433 human ensembl 74_37 -1 known rna NULL NULL 0.963 - - - no_errors CLASP2 HGNC ENSG00000163539 45 0 0 40 17 29.8246 ENTPD3-AS1 0 genome.wustl.edu 37 3 40433741 40433741 + RNA DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 40433741 40433741 C - DEL ENTPD3-AS1 ENST00000425156 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD3-AS1 HGNC ENSG00000223797 23 0 0 23 5 17.8571 SETD2 0 genome.wustl.edu 37 3 47084146 47084146 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 47084146 47084146 G - DEL SETD2 ENST00000409792 human ensembl 74_37 -1 known frame_shift_del c.7143 p.S2382fs 0.013 superfamily_WW_dom pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 243 0 0 192 30 13.5135 KIF9 0 genome.wustl.edu 37 3 47316957 47316957 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 47316957 47316957 T - DEL KIF9 ENST00000265529 human ensembl 74_37 -1 known frame_shift_del c.117 p.D40fs 0.993 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 152 0 0 108 29 21.1679 PTPN23 0 genome.wustl.edu 37 3 47452588 47452588 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 47452588 47452588 C - DEL PTPN23 ENST00000265562 human ensembl 74_37 +1 known frame_shift_del c.3300 p.P1102fs 0.048 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 39 0 0 27 7 20.5882 P4HTM 0 genome.wustl.edu 37 3 49043192 49043193 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 49043192 49043193 - C INS P4HTM ENST00000343546 human ensembl 74_37 +1 known frame_shift_ins c.1239_1240 p.L415fs 0.017:0.124 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 161 0 0 128 12 8.57143 C3orf62 0 genome.wustl.edu 37 3 49314258 49314258 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 49314258 49314258 T - DEL C3orf62 ENST00000343010 human ensembl 74_37 -1 known frame_shift_del c.48 p.K16fs 1.000 NULL NULL - no_errors C3orf62 HGNC ENSG00000188315 122 0 0 78 29 27.1028 RNF123 0 genome.wustl.edu 37 3 49738978 49738980 + In_Frame_Del DEL GGA GGA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 49738978 49738980 GGA - DEL RNF123 ENST00000327697 human ensembl 74_37 +1 known in_frame_del c.1332_1334 p.E446in_frame_del 1.000:1.000:1.000 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 190 0 0 150 15 9.09091 RBM6 0 genome.wustl.edu 37 3 50005144 50005145 + Frame_Shift_Ins INS - - G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 50005144 50005145 - G INS RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_ins c.286_287 p.D99fs 1.000:1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 197 0 0 161 45 21.8447 MAPKAPK3 0 genome.wustl.edu 37 3 50655080 50655080 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 50655080 50655080 G - DEL MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known frame_shift_del c.84 p.R31fs 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 139 0 0 120 18 13.0435 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 104 0 0 104 12 10.3448 TWF2 0 genome.wustl.edu 37 3 52263948 52263948 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 52263948 52263948 G - DEL TWF2 ENST00000305533 human ensembl 74_37 -1 known frame_shift_del c.748 p.E251fs 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF2 HGNC ENSG00000247596 65 0 0 63 8 11.2676 PBRM1 0 genome.wustl.edu 37 3 52588798 52588798 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 52588798 52588798 C - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.4551 p.P1518fs 1.000 NULL pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 66 0 0 68 11 13.9241 FAM208A 0 genome.wustl.edu 37 3 56681079 56681079 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 56681079 56681079 A - DEL FAM208A ENST00000355628 human ensembl 74_37 -1 known frame_shift_del c.1686 p.F562fs 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 114 0 0 66 32 32.6531 FAM86DP 0 genome.wustl.edu 37 3 75480039 75480040 + RNA INS - - CA TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 75480039 75480040 - CA INS FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors FAM86DP HGNC ENSG00000244026 70 0 0 63 11 14.8649 SETD5 0 genome.wustl.edu 37 3 9517294 9517295 + Frame_Shift_Ins INS - - C TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 3 9517294 9517295 - C INS SETD5 ENST00000402198 human ensembl 74_37 +1 known frame_shift_ins c.3848_3849 p.S1286fs 1.000:0.997 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 157 0 0 126 32 20.2532 INTS12 0 genome.wustl.edu 37 4 106621122 106621122 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 325 0 0 210 37 14.9798 RRH 0 genome.wustl.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 110756541 110756541 T - DEL RRH ENST00000317735 human ensembl 74_37 +1 known frame_shift_del c.317 p.F108fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 159 0 0 110 21 16.0305 ANK2 0 genome.wustl.edu 37 4 114275575 114275575 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 114275575 114275575 A - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.5801 p.K1935fs 0.920 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 135 0 0 97 20 17.094 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 77 0 0 30 16 34.7826 TRAM1L1 0 genome.wustl.edu 37 4 118005517 118005517 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 118005517 118005517 T - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.1033 p.R345fs 1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 440 1 0.226757 264 56 17.5 KIAA1109 0 genome.wustl.edu 37 4 123165029 123165029 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 123165029 123165029 A - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.4763 p.K1590fs 0.999 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 122 0 0 61 15 19.7368 CTBP1 0 genome.wustl.edu 37 4 1235170 1235170 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 1235170 1235170 T - DEL CTBP1 ENST00000515690 human ensembl 74_37 -1 known rna NULL NULL 0.231 - - - no_errors CTBP1 HGNC ENSG00000159692 180 0 0 120 19 13.6691 SCLT1 0 genome.wustl.edu 37 4 129864162 129864163 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 129864162 129864163 - T INS SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_ins c.1621_1620 p.A540fs 1.000:1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 192 0 0 111 20 15.2672 UVSSA 0 genome.wustl.edu 37 4 1343514 1343514 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 1343514 1343514 C - DEL UVSSA ENST00000389851 human ensembl 74_37 +1 known frame_shift_del c.301 p.R103fs 1.000 superfamily_ENTH_VHS pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 70 0 0 36 9 20 PCDH18 0 genome.wustl.edu 37 4 138453024 138453025 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 138453024 138453025 - T INS PCDH18 ENST00000344876 human ensembl 74_37 -1 known frame_shift_ins c.219_218 p.N73fs 0.657:0.667 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 281 0 0 181 32 15.0235 SLC7A11 0 genome.wustl.edu 37 4 139153538 139153539 + Splice_Site INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 139153538 139153539 - A INS SLC7A11 ENST00000280612 human ensembl 74_37 -1 known splice_site_ins c.405-3_405-2 e3-2 1.000:0.006 - - - no_errors SLC7A11 HGNC ENSG00000151012 48 0 0 37 6 13.9535 SORBS2 0 genome.wustl.edu 37 4 186515044 186515044 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 186515044 186515044 C - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.3130 p.E1044fs 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 150 0 0 79 13 14.1304 FAT1 0 genome.wustl.edu 37 4 187519161 187519162 + Frame_Shift_Del DEL AA AA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 187519161 187519162 AA - DEL FAT1 ENST00000441802 human ensembl 74_37 -1 known frame_shift_del c.12222_12221 p.F4074fs 0.061:0.998 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 116 0 0 71 12 14.4578 CHRNA9 0 genome.wustl.edu 37 4 40337892 40337892 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 40337892 40337892 T - DEL CHRNA9 ENST00000310169 human ensembl 74_37 +1 known frame_shift_del c.113 p.F39fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 155 0 0 87 23 20.9091 PHOX2B 0 genome.wustl.edu 37 4 41748245 41748245 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 41748245 41748245 T - DEL PHOX2B ENST00000226382 human ensembl 74_37 -1 known frame_shift_del c.524 p.K175fs 0.225 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors PHOX2B HGNC ENSG00000109132 132 0 0 79 12 13.1868 LYAR 0 genome.wustl.edu 37 4 4270269 4270270 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 4270269 4270270 - T INS LYAR ENST00000343470 human ensembl 74_37 -1 known frame_shift_ins c.993_992 p.L332fs 1.000:1.000 NULL pfam_Znf_C2H2_LYAR - no_errors LYAR HGNC ENSG00000145220 249 0 0 129 22 14.5695 GUF1 0 genome.wustl.edu 37 4 44680574 44680574 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 44680574 44680574 A - DEL GUF1 ENST00000506793 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUF1 HGNC ENSG00000151806 11 0 0 13 2 13.3333 ATP10D 0 genome.wustl.edu 37 4 47559941 47559942 + Frame_Shift_Del DEL AG AG - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 47559941 47559942 AG - DEL ATP10D ENST00000273859 human ensembl 74_37 +1 known frame_shift_del c.2085_2086 p.K697fs 0.000:0.068 superfamily_HAD-like_dom 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 ATP10D HGNC ENSG00000145246 126 0 0 70 22 23.913 FIP1L1 0 genome.wustl.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 54319248 54319249 AG - DEL FIP1L1 ENST00000337488 human ensembl 74_37 +1 known frame_shift_del c.1447_1448 p.E486fs 0.975:0.991 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 139 0 0 91 12 11.6505 REST 0 genome.wustl.edu 37 4 57777446 57777446 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 57777446 57777446 C - DEL REST ENST00000309042 human ensembl 74_37 +1 known frame_shift_del c.642 p.I216fs 0.434 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 98 0 0 76 14 15.5556 MOB1B 0 genome.wustl.edu 37 4 71844995 71844995 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 71844995 71844995 T - DEL MOB1B ENST00000309395 human ensembl 74_37 +1 known frame_shift_del c.560 p.F189fs 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB1B HGNC ENSG00000173542 203 0 0 117 21 15.2174 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 110 1 0.900901 77 17 18.0851 TSPAN5 0 genome.wustl.edu 37 4 99403314 99403314 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 4 99403314 99403314 G - DEL TSPAN5 ENST00000305798 human ensembl 74_37 -1 known frame_shift_del c.292 p.L98fs 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 134 0 0 82 12 12.766 PPIP5K2 0 genome.wustl.edu 37 5 102537309 102537309 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 102537309 102537309 A - DEL PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known frame_shift_del c.3706 p.N1238fs 0.999 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 32 0 0 21 4 16 EPB41L4A 0 genome.wustl.edu 37 5 111576418 111576418 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 111576418 111576418 A - DEL EPB41L4A ENST00000261486 human ensembl 74_37 -1 known frame_shift_del c.885 p.F295fs 0.998 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 53 0 0 23 9 28.125 YTHDC2 0 genome.wustl.edu 37 5 112889545 112889545 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 112889545 112889545 A - DEL YTHDC2 ENST00000161863 human ensembl 74_37 +1 known frame_shift_del c.2046 p.I684fs 0.993 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 84 0 0 43 10 18.8679 CLPTM1L 0 genome.wustl.edu 37 5 1325892 1325892 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 1325892 1325892 A - DEL CLPTM1L ENST00000320895 human ensembl 74_37 -1 known frame_shift_del c.1120 p.W374fs 0.986 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 184 0 0 126 23 15.4362 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 52 0 0 30 5 14.2857 FCHSD1 0 genome.wustl.edu 37 5 141020095 141020095 + RNA DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 141020095 141020095 C - DEL FCHSD1 ENST00000523856 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCHSD1 HGNC ENSG00000197948 33 0 0 19 5 20.8333 PCDH12 0 genome.wustl.edu 37 5 141336748 141336748 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 141336748 141336748 G - DEL PCDH12 ENST00000231484 human ensembl 74_37 -1 known frame_shift_del c.669 p.K224fs 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 144 0 0 92 16 14.8148 HMMR 0 genome.wustl.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 162917426 162917426 A - DEL HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_del c.1993 p.K667fs 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 112 0 0 52 12 18.75 MYO10 0 genome.wustl.edu 37 5 16694606 16694606 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 16694606 16694606 C - DEL MYO10 ENST00000513610 human ensembl 74_37 -1 known frame_shift_del c.3674 p.G1225fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 175 1 0.568182 135 19 12.3377 SLC34A1 0 genome.wustl.edu 37 5 176824715 176824715 + RNA DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 176824715 176824715 C - DEL SLC34A1 ENST00000513614 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC34A1 HGNC ENSG00000131183 87 0 0 51 15 22.7273 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 131 0 0 75 20 21.0526 MOCS2 0 genome.wustl.edu 37 5 52402940 52402940 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 52402940 52402940 G - DEL MOCS2 ENST00000396954 human ensembl 74_37 -1 known frame_shift_del c.65 p.P22fs 1.000 NULL pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE - no_errors MOCS2 HGNC ENSG00000164172 117 0 0 93 11 10.5769 NDUFS4 0 genome.wustl.edu 37 5 52954446 52954446 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 52954446 52954446 A - DEL NDUFS4 ENST00000296684 human ensembl 74_37 +1 known frame_shift_del c.416 p.N141fs 1.000 pfam_NADH_UbQ_FeS_4_mit pfam_NADH_UbQ_FeS_4_mit - no_errors NDUFS4 HGNC ENSG00000164258 143 0 0 86 6 6.52174 GPX8 0 genome.wustl.edu 37 5 54460113 54460113 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 54460113 54460113 T - DEL GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC ENSG00000164294 29 0 0 18 2 10 TRAPPC13 0 genome.wustl.edu 37 5 64946674 64946675 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 64946674 64946675 - A INS TRAPPC13 ENST00000545191 human ensembl 74_37 +1 known frame_shift_ins c.466_467 p.M158fs 1.000:1.000 pfam_DUF974 pfam_DUF974 - no_errors TRAPPC13 HGNC ENSG00000113597 63 0 0 40 9 18.3673 FASTKD3 0 genome.wustl.edu 37 5 7867769 7867769 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 7867769 7867769 T - DEL FASTKD3 ENST00000264669 human ensembl 74_37 -1 known frame_shift_del c.428 p.K143fs 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 86 0 0 48 11 18.6441 MTRR 0 genome.wustl.edu 37 5 7875406 7875406 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 7875406 7875406 G - DEL MTRR ENST00000264668 human ensembl 74_37 +1 known frame_shift_del c.400 p.K136fs 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 400 1 0.249377 263 51 16.242 ZFYVE16 0 genome.wustl.edu 37 5 79773189 79773189 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 5 79773189 79773189 T - DEL ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known frame_shift_del c.4613 p.*1540fs 1.000 NULL pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 75 0 0 39 10 20.4082 CCNC 0 genome.wustl.edu 37 6 100006296 100006298 + In_Frame_Del DEL AAA AAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 100006296 100006298 AAA - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative in_frame_del c.423_421 p.F141in_frame_del 0.007:0.028:0.058 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 62 0 0 36 14 28 ASCC3 0 genome.wustl.edu 37 6 101127558 101127558 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 101127558 101127558 T - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.2222 p.N741fs 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 133 0 0 76 16 17.3913 TFAP2A 0 genome.wustl.edu 37 6 10402804 10402804 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 10402804 10402804 T - DEL TFAP2A ENST00000379604 human ensembl 74_37 -1 known frame_shift_del c.804 p.K268fs 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 103 0 0 46 17 26.9841 PREP 0 genome.wustl.edu 37 6 105726144 105726144 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 105726144 105726144 G - DEL PREP ENST00000369110 human ensembl 74_37 -1 known frame_shift_del c.2008 p.L670fs 1.000 pfam_Peptidase_S9 pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 118 0 0 104 8 7.14286 ATG5 0 genome.wustl.edu 37 6 106634539 106634539 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 106634539 106634539 T - DEL ATG5 ENST00000343245 human ensembl 74_37 -1 known frame_shift_del c.704 p.K235fs 1.000 pfam_Atg5 pfam_Atg5 - no_errors ATG5 HGNC ENSG00000057663 105 0 0 80 15 15.7895 ENSG00000271730 0 genome.wustl.edu 37 6 109319967 109319969 + RNA DEL GAA GAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 109319967 109319969 GAA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 80 0 0 27 28 50.9091 ENSG00000271730 0 genome.wustl.edu 37 6 109319967 109319970 + RNA DEL GAAA GAAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 GAAA GAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 109319967 109319970 GAAA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 78 0 0 50 6 10.7143 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 108 1 0.917431 59 17 22.3684 TRDN 0 genome.wustl.edu 37 6 123759209 123759209 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 123759209 123759209 T - DEL TRDN ENST00000398178 human ensembl 74_37 -1 known frame_shift_del c.1050 p.E351fs 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 11 0 0 7 3 30 ENSG00000229036 0 genome.wustl.edu 37 6 143806162 143806163 + RNA INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 143806162 143806163 - T INS ENSG00000229036 ENST00000591892 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors RP1-20N2.6 Clone_based_vega_gene ENSG00000229036 34 0 0 18 8 30.7692 SHPRH 0 genome.wustl.edu 37 6 146275964 146275964 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 146275964 146275964 T - DEL SHPRH ENST00000367503 human ensembl 74_37 -1 known frame_shift_del c.495 p.E166fs 0.391 NULL pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 151 0 0 101 6 5.60748 CCDC170 0 genome.wustl.edu 37 6 151936775 151936775 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 151936775 151936775 A - DEL CCDC170 ENST00000367290 human ensembl 74_37 +1 known frame_shift_del c.1929 p.K645fs 0.026 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 282 0 0 213 24 10.1266 FGFR1OP 0 genome.wustl.edu 37 6 167413537 167413537 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 167413537 167413537 T - DEL FGFR1OP ENST00000476078 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FGFR1OP HGNC ENSG00000213066 113 0 0 83 13 13.5417 RBM24 0 genome.wustl.edu 37 6 17292449 17292451 + RNA DEL AAA AAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 17292449 17292451 AAA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719:0.391 - - - no_errors RBM24 HGNC ENSG00000112183 75 0 0 27 2 6.89655 HLA-F 0 genome.wustl.edu 37 6 29694045 29694045 + RNA DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 29694045 29694045 G - DEL HLA-F ENST00000484704 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors HLA-F HGNC ENSG00000204642 69 0 0 53 12 18.4615 DHX16 0 genome.wustl.edu 37 6 30621048 30621048 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 30621048 30621048 T - DEL DHX16 ENST00000376442 human ensembl 74_37 -1 known frame_shift_del c.3097 p.I1033fs 0.987 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 187 0 0 127 17 11.8056 MDC1 0 genome.wustl.edu 37 6 30681463 30681463 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 30681463 30681463 T - DEL MDC1 ENST00000376406 human ensembl 74_37 -1 known frame_shift_del c.549 p.K183fs 0.166 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 99 0 0 59 6 9.23077 C6orf25 0 genome.wustl.edu 37 6 31692529 31692529 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 31692529 31692529 C - DEL C6orf25 ENST00000375809 human ensembl 74_37 +1 known frame_shift_del c.548 p.P185fs 0.995 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 117 0 0 76 30 28.3019 PRRT1 0 genome.wustl.edu 37 6 32119591 32119591 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 32119591 32119591 T - DEL PRRT1 ENST00000211413 human ensembl 74_37 -1 known frame_shift_del c.14 p.K5fs 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 82 0 0 63 7 10 TAF11 0 genome.wustl.edu 37 6 34846381 34846381 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 34846381 34846381 T - DEL TAF11 ENST00000361288 human ensembl 74_37 -1 known frame_shift_del c.622 p.I208fs 1.000 NULL pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors TAF11 HGNC ENSG00000064995 178 0 0 159 29 15.4255 PRPF4B 0 genome.wustl.edu 37 6 4052975 4052975 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 4052975 4052975 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.2334 p.K780fs 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 PRPF4B HGNC ENSG00000112739 64 0 0 38 15 28.3019 CDYL 0 genome.wustl.edu 37 6 4716061 4716061 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 4716061 4716061 A - DEL CDYL ENST00000328908 human ensembl 74_37 +1 known frame_shift_del c.49 p.N18fs 0.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 95 0 0 83 5 5.68182 MYO6 0 genome.wustl.edu 37 6 76599858 76599858 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 76599858 76599858 A - DEL MYO6 ENST00000369981 human ensembl 74_37 +1 known frame_shift_del c.2743 p.K917fs 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 128 0 0 125 19 13.1944 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 72 0 0 27 6 18.1818 IBTK 0 genome.wustl.edu 37 6 82891642 82891643 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 82891642 82891643 - T INS IBTK ENST00000306270 human ensembl 74_37 -1 known frame_shift_ins c.3679_3678 p.V1226fs 0.980:1.000 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 71 0 0 52 8 13.3333 MAP3K7 0 genome.wustl.edu 37 6 91246134 91246134 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 6 91246134 91246134 A - DEL MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.268 - - - no_errors MAP3K7 HGNC ENSG00000135341 66 0 0 52 8 13.3333 SLC12A9 0 genome.wustl.edu 37 7 100452322 100452323 + Frame_Shift_Del DEL CT CT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 100452322 100452323 CT - DEL SLC12A9 ENST00000354161 human ensembl 74_37 +1 known frame_shift_del c.262_263 p.S89fs 1.000:1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 154 0 0 132 18 12 KMT2E 0 genome.wustl.edu 37 7 104746985 104746985 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 104746985 104746985 A - DEL KMT2E ENST00000257745 human ensembl 74_37 +1 known frame_shift_del c.2613 p.K873fs 0.999 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 105 0 0 87 14 13.8614 PIK3CG 0 genome.wustl.edu 37 7 106519994 106519994 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 106519994 106519994 A - DEL PIK3CG ENST00000359195 human ensembl 74_37 +1 known frame_shift_del c.2422 p.K809fs 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 140 0 0 113 17 13.0769 WASL 0 genome.wustl.edu 37 7 123332485 123332485 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 123332485 123332485 T - DEL WASL ENST00000223023 human ensembl 74_37 -1 known frame_shift_del c.1263 p.V422fs 1.000 pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom 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 WASL HGNC ENSG00000106299 160 0 0 104 44 29.7297 ZC3HAV1 0 genome.wustl.edu 37 7 138758692 138758694 + In_Frame_Del DEL AGA AGA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 138758692 138758694 AGA - DEL ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known in_frame_del c.1782_1780 p.S594in_frame_del 0.000:0.020:0.019 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 100 0 0 89 10 10.101 NOBOX 0 genome.wustl.edu 37 7 144098496 144098496 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 50 0 0 65 6 8.4507 GIMAP8 0 genome.wustl.edu 37 7 150174435 150174435 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 150174435 150174435 A - DEL GIMAP8 ENST00000307271 human ensembl 74_37 +1 known frame_shift_del c.1565 p.D525fs 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 111 0 0 71 32 31.068 KMT2C 0 genome.wustl.edu 37 7 151845959 151845959 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 151845959 151845959 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.13224 p.K4408fs 0.998 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 90 0 0 59 35 37.234 DPP6 0 genome.wustl.edu 37 7 154237703 154237703 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 154237703 154237703 A - DEL DPP6 ENST00000377770 human ensembl 74_37 +1 known frame_shift_del c.544 p.I184fs 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 13 0 0 4 2 33.3333 SP8 0 genome.wustl.edu 37 7 20824665 20824665 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 20824665 20824665 C - DEL SP8 ENST00000418710 human ensembl 74_37 -1 known frame_shift_del c.771 p.L258fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 22 0 0 31 4 11.4286 DNAH11 0 genome.wustl.edu 37 7 21639564 21639564 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 21639564 21639564 T - DEL DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_del c.2827 p.Q945fs 0.826 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 DNAH11 HGNC ENSG00000105877 59 0 0 36 11 23.4043 NOD1 0 genome.wustl.edu 37 7 30491486 30491486 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 30491486 30491486 A - DEL NOD1 ENST00000222823 human ensembl 74_37 -1 known frame_shift_del c.1547 p.F516fs 0.990 pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 125 1 0.793651 82 39 32.2314 DPY19L2P1 0 genome.wustl.edu 37 7 35131318 35131318 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 35131318 35131318 T - DEL DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 8 0 0 4 4 50 CCT6P1 0 genome.wustl.edu 37 7 65220825 65220825 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 65220825 65220825 T - DEL CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors CCT6P1 HGNC ENSG00000228409 75 0 0 64 10 13.5135 GTF2I 0 genome.wustl.edu 37 7 74114939 74114939 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 74114939 74114939 T - DEL GTF2I ENST00000324896 human ensembl 74_37 +1 known frame_shift_del c.561 p.L189fs 1.000 superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 326 0 0 247 88 26.2687 MAGI2 0 genome.wustl.edu 37 7 77764525 77764526 + Splice_Site INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 77764525 77764526 - A INS MAGI2 ENST00000354212 human ensembl 74_37 -1 known splice_site_ins c.2846-3_2846-2 e17-2 1.000:0.036 - - - no_errors MAGI2 HGNC ENSG00000187391 99 0 0 91 11 10.7843 PCLO 0 genome.wustl.edu 37 7 82390038 82390038 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 82390038 82390038 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.15205 p.T5069fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 64 0 0 36 10 21.7391 PCLO 0 genome.wustl.edu 37 7 82582944 82582944 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 82582944 82582944 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.7325 p.K2442fs 0.984 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 45 0 0 23 5 17.8571 CYP51A1 0 genome.wustl.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 91752494 91752494 T - DEL CYP51A1 ENST00000003100 human ensembl 74_37 -1 known frame_shift_del c.1026 p.K342fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I 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 287 0 0 230 37 13.8577 SAMD9L 0 genome.wustl.edu 37 7 92761061 92761061 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 7 92761061 92761061 T - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.4224 p.K1408fs 0.665 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 425 0 0 300 107 26.2899 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 231 0 0 208 34 14.0496 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 61 0 0 36 8 18.1818 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 120 1 0.826446 69 16 18.8235 TRPS1 0 genome.wustl.edu 37 8 116599323 116599323 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 116599323 116599323 C - DEL TRPS1 ENST00000395715 human ensembl 74_37 -1 known frame_shift_del c.2605 p.A869fs 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 102 0 0 91 15 14.1509 COL14A1 0 genome.wustl.edu 37 8 121160125 121160126 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 121160125 121160126 - T INS COL14A1 ENST00000297848 human ensembl 74_37 +1 known frame_shift_ins c.44_45 p.L17fs 0.996:0.996 NULL pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 60 0 0 62 7 10.1449 ATAD2 0 genome.wustl.edu 37 8 124384893 124384893 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 124384893 124384893 T - DEL ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_del c.354 p.E119fs 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 266 0 0 156 38 19.5876 MYC 0 genome.wustl.edu 37 8 128753073 128753073 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 128753073 128753073 A - DEL MYC ENST00000377970 human ensembl 74_37 +1 known frame_shift_del c.1234 p.A414fs 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 279 0 0 240 23 8.74525 LY6H 0 genome.wustl.edu 37 8 144239712 144239712 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 144239712 144239712 C - DEL LY6H ENST00000342752 human ensembl 74_37 -1 known frame_shift_del c.441 p.L148fs 0.992 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6H HGNC ENSG00000176956 92 0 0 68 13 16.0494 MAPK15 0 genome.wustl.edu 37 8 144804319 144804319 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 144804319 144804319 G - DEL MAPK15 ENST00000338033 human ensembl 74_37 +1 known frame_shift_del c.1533 p.G513fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK15 HGNC ENSG00000181085 205 0 0 159 19 10.6742 VPS28 0 genome.wustl.edu 37 8 145652340 145652341 + RNA INS - - G TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 145652340 145652341 - G INS VPS28 ENST00000526734 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors VPS28 HGNC ENSG00000160948 45 0 0 45 3 6.25 NAT1 0 genome.wustl.edu 37 8 18079720 18079720 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 18079720 18079720 T - DEL NAT1 ENST00000545197 human ensembl 74_37 +1 known frame_shift_del c.350 p.F118fs 0.053 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT1 HGNC ENSG00000171428 261 0 0 208 32 13.3333 SLC39A14 0 genome.wustl.edu 37 8 22273344 22273344 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 22273344 22273344 G - DEL SLC39A14 ENST00000359741 human ensembl 74_37 +1 known frame_shift_del c.813 p.V273fs 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 130 0 0 111 14 11.2 SORBS3 0 genome.wustl.edu 37 8 22426753 22426753 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 22426753 22426753 G - DEL SORBS3 ENST00000240123 human ensembl 74_37 +1 known frame_shift_del c.1398 p.D468fs 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 61 0 0 57 9 13.6364 CHMP7 0 genome.wustl.edu 37 8 23106785 23106785 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 23106785 23106785 G - DEL CHMP7 ENST00000313219 human ensembl 74_37 +1 known frame_shift_del c.362 p.V123fs 1.000 NULL pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 100 0 0 103 9 8.03571 ADAM28 0 genome.wustl.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 24167472 24167473 - A INS ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_ins c.216_217 p.N74fs 1.000:1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 103 0 0 72 10 12.1951 KCTD9 0 genome.wustl.edu 37 8 25287444 25287445 + Frame_Shift_Del DEL CT CT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 25287444 25287445 CT - DEL KCTD9 ENST00000221200 human ensembl 74_37 -1 known frame_shift_del c.1099_1098 p.G367fs 1.000:0.999 pfam_5peptide_repeat pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 276 0 0 173 32 15.6098 TEX15 0 genome.wustl.edu 37 8 30703516 30703516 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 30703516 30703516 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.3018 p.A1007fs 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 444 0 0 239 41 14.6429 RAB11FIP1 0 genome.wustl.edu 37 8 37756850 37756850 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 37756850 37756850 C - DEL RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known frame_shift_del c.110 p.G37fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 55 0 0 55 11 16.6667 CHRNB3 0 genome.wustl.edu 37 8 42587571 42587571 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 42587571 42587571 A - DEL CHRNB3 ENST00000289957 human ensembl 74_37 +1 known frame_shift_del c.1121 p.K376fs 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 90 0 0 85 10 10.5263 SNAI2 0 genome.wustl.edu 37 8 49831507 49831507 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 49831507 49831507 A - DEL SNAI2 ENST00000020945 human ensembl 74_37 -1 known frame_shift_del c.666 p.F222fs 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 154 0 0 99 23 18.8525 RP1 0 genome.wustl.edu 37 8 55539295 55539295 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 55539295 55539295 T - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.2853 p.S953fs 0.057 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 124 0 0 93 14 13.0841 PLAG1 0 genome.wustl.edu 37 8 57079754 57079754 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 57079754 57079754 T - DEL PLAG1 ENST00000316981 human ensembl 74_37 -1 known frame_shift_del c.551 p.K184fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 84 0 0 77 16 17.2043 SULF1 0 genome.wustl.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 70514026 70514026 T - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.1023 p.F343fs 0.786 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 563 0 0 457 64 12.2841 SPAG11A 0 genome.wustl.edu 37 8 7718228 7718228 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 7718228 7718228 T - DEL SPAG11A ENST00000326558 human ensembl 74_37 +1 known frame_shift_del c.275 p.F94fs 0.999 NULL pfam_Sperm_Ag_HE2 - no_errors SPAG11A HGNC ENSG00000178287 321 0 0 253 15 5.59701 ZNF704 0 genome.wustl.edu 37 8 81733778 81733778 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 8 81733778 81733778 T - DEL ZNF704 ENST00000327835 human ensembl 74_37 -1 known frame_shift_del c.52 p.M18fs 0.102 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 561 0 0 482 77 13.7746 TEX10 0 genome.wustl.edu 37 9 103111633 103111633 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 103111633 103111633 T - DEL TEX10 ENST00000374902 human ensembl 74_37 -1 known frame_shift_del c.13 p.R5fs 1.000 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 45 0 0 18 5 21.7391 SMC2 0 genome.wustl.edu 37 9 106889604 106889604 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 106889604 106889604 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.2633 p.E880fs 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 191 0 0 121 17 12.3188 HSPA5 0 genome.wustl.edu 37 9 128001567 128001567 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 128001567 128001567 C - DEL HSPA5 ENST00000324460 human ensembl 74_37 -1 known frame_shift_del c.649 p.E217fs 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 109 0 0 71 12 14.4578 C9orf78 0 genome.wustl.edu 37 9 132595850 132595850 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 132595850 132595850 T - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors C9orf78 HGNC ENSG00000136819 89 0 0 80 9 10.1124 PRRC2B 0 genome.wustl.edu 37 9 134350640 134350640 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 134350640 134350640 C - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known frame_shift_del c.3124 p.M1044fs 0.992 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 64 0 0 34 6 15 RAPGEF1 0 genome.wustl.edu 37 9 134464198 134464198 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 134464198 134464198 C - DEL RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known frame_shift_del c.2539 p.V847fs 0.997 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N 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 20 0 0 7 4 36.3636 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 30 0 0 6 9 60 TTF1 0 genome.wustl.edu 37 9 135277202 135277202 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 135277202 135277202 T - DEL TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_del c.1007 p.K336fs 0.912 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 342 0 0 223 46 17.1004 SURF1 0 genome.wustl.edu 37 9 136221753 136221754 + Frame_Shift_Ins INS - - T TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 136221753 136221754 - T INS SURF1 ENST00000371974 human ensembl 74_37 -1 known frame_shift_ins c.166_165 p.A55fs 0.000:0.000 NULL pfam_Surf1/Shy1,pfscan_Surf1/Shy1 - no_errors SURF1 HGNC ENSG00000148290 281 0 0 187 23 10.9524 BRD3 0 genome.wustl.edu 37 9 136918529 136918529 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 136918529 136918529 G - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_del c.71 p.P24fs 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 75 0 0 46 12 20.6897 WDR5 0 genome.wustl.edu 37 9 137023052 137023054 + In_Frame_Del DEL CAT CAT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 137023052 137023054 CAT - DEL WDR5 ENST00000358625 human ensembl 74_37 +1 known in_frame_del c.942_944 p.I316in_frame_del 1.000:1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5 HGNC ENSG00000196363 155 0 0 96 11 10.2804 SNAPC4 0 genome.wustl.edu 37 9 139275256 139275257 + Frame_Shift_Del DEL CT CT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 139275256 139275257 CT - DEL SNAPC4 ENST00000298532 human ensembl 74_37 -1 known frame_shift_del c.2435_2434 p.R812fs 1.000:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 84 0 0 62 12 16.2162 DPP7 0 genome.wustl.edu 37 9 140006327 140006327 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 140006327 140006327 C - DEL DPP7 ENST00000371579 human ensembl 74_37 -1 known frame_shift_del c.1205 p.G402fs 0.000 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 37 0 0 25 8 24.2424 MLLT3 0 genome.wustl.edu 37 9 20346394 20346396 + RNA DEL AAA AAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 20346394 20346396 AAA - DEL MLLT3 ENST00000380323 human ensembl 74_37 -1 known rna NULL NULL 0.015:0.015:0.227 - - - no_errors MLLT3 HGNC ENSG00000171843 60 0 0 47 3 6 ENSG00000265194 0 genome.wustl.edu 37 9 21861903 21861903 + RNA DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 21861903 21861903 T - DEL ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 79 0 0 36 18 33.3333 LINGO2 0 genome.wustl.edu 37 9 27948946 27948946 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 27948946 27948946 T - DEL LINGO2 ENST00000308675 human ensembl 74_37 -1 known frame_shift_del c.1724 p.N575fs 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 156 0 0 90 17 15.8879 ZCCHC7 0 genome.wustl.edu 37 9 37357250 37357250 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 37357250 37357250 A - DEL ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known frame_shift_del c.1617 p.K542fs 1.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC7 HGNC ENSG00000147905 76 0 0 44 9 16.9811 GNAQ 0 genome.wustl.edu 37 9 80537249 80537250 + Frame_Shift_Del DEL CT CT - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 80537249 80537250 CT - DEL GNAQ ENST00000286548 human ensembl 74_37 -1 known frame_shift_del c.149_148 p.S50fs 1.000:1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors GNAQ HGNC ENSG00000156052 277 0 0 179 25 12.2549 TLE1 0 genome.wustl.edu 37 9 84225192 84225192 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 84225192 84225192 G - DEL TLE1 ENST00000376499 human ensembl 74_37 -1 known frame_shift_del c.1274 p.P425fs 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 53 0 0 21 5 19.2308 ZCCHC6 0 genome.wustl.edu 37 9 88937823 88937823 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 9 88937823 88937823 A - DEL ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known frame_shift_del c.2842 p.Y948fs 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 92 0 0 59 8 11.9403 BTK 0 genome.wustl.edu 37 X 100608059 100608062 + RNA DEL AAAA AAAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 100608059 100608062 AAAA - DEL BTK ENST00000470069 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.016:0.023:0.027 - - - no_errors BTK HGNC ENSG00000010671 53 0 0 38 14 26.9231 BTK 0 genome.wustl.edu 37 X 100617587 100617587 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 100617587 100617587 T - DEL BTK ENST00000308731 human ensembl 74_37 -1 known frame_shift_del c.482 p.N161fs 1.000 pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif,prints_Znf_Btk_motif pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 296 1 0.3367 203 48 19.1235 UTP14A 0 genome.wustl.edu 37 X 129055622 129055622 + RNA DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 129055622 129055622 A - DEL UTP14A ENST00000498179 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UTP14A HGNC ENSG00000156697 38 0 0 23 5 17.8571 HTATSF1 0 genome.wustl.edu 37 X 135593604 135593604 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 135593604 135593604 A - DEL HTATSF1 ENST00000218364 human ensembl 74_37 +1 known frame_shift_del c.1700 p.N568fs 0.942 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 142 0 0 103 20 16.2602 SAT1 0 genome.wustl.edu 37 X 23802147 23802147 + Frame_Shift_Del DEL A A - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 23802147 23802147 A - DEL SAT1 ENST00000379251 human ensembl 74_37 +1 known frame_shift_del c.439 p.N150fs 0.001 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SAT1 HGNC ENSG00000130066 16 0 0 8 5 38.4615 PRRG1 0 genome.wustl.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 37312611 37312611 C - DEL PRRG1 ENST00000378628 human ensembl 74_37 +1 known frame_shift_del c.394 p.P134fs 0.109 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 311 2 0.638978 187 51 21.4286 WDR13 0 genome.wustl.edu 37 X 48457035 48457036 + RNA DEL CC CC - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 48457035 48457036 CC - DEL WDR13 ENST00000479279 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WDR13 HGNC ENSG00000101940 22 0 0 16 11 40.7407 CCDC120 0 genome.wustl.edu 37 X 48923062 48923062 + Frame_Shift_Del DEL G G - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 48923062 48923062 G - DEL CCDC120 ENST00000603986 human ensembl 74_37 +1 known frame_shift_del c.865 p.S291fs 1.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 42 0 0 33 5 13.1579 IL2RG 0 genome.wustl.edu 37 X 70330449 70330449 + Frame_Shift_Del DEL T T - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 70330449 70330449 T - DEL IL2RG ENST00000374202 human ensembl 74_37 -1 known frame_shift_del c.359 p.K120fs 0.000 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 207 0 0 138 20 12.6582 XIST 0 genome.wustl.edu 37 X 73071941 73071943 + RNA DEL AAA AAA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af 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 19 0 0 12 3 20 ATRX 0 genome.wustl.edu 37 X 76763680 76763681 + RNA DEL AA AA - TCGA-BR-4368-01A-01D-1158-08 TCGA-BR-4368-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0f320a44-6403-4052-a943-34da7c12efd4 c4eb03db-0517-4ea5-af47-2b5bd1dc43af X 76763680 76763681 AA - DEL ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors ATRX HGNC ENSG00000085224 17 0 0 11 9 45