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 EXTL2 0 genome.wustl.edu 37 1 101339853 101339853 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 101339853 101339853 A T SNP EXTL2 ENST00000370114 human ensembl 74_37 -1 known missense c.638 p.I213N 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a - no_errors EXTL2 HGNC ENSG00000162694 57 0 0 42 7 14.2857 COL11A1 0 genome.wustl.edu 37 1 103345444 103345444 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 103345444 103345444 G T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.5105 p.S1702Y 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 90 0 0 55 5 8.33333 CASZ1 0 genome.wustl.edu 37 1 10715762 10715762 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 10715762 10715762 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.1609 p.V537I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 27 0 0 22 5 18.5185 VAV3 0 genome.wustl.edu 37 1 108507464 108507464 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 108507464 108507464 A G SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.28 p.W10R 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 22 0 0 26 4 13.3333 FNDC7 0 genome.wustl.edu 37 1 109276020 109276020 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 109276020 109276020 C T SNP FNDC7 ENST00000271311 human ensembl 74_37 +1 known missense c.2009 p.T670M 0.995 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 104 0 0 85 23 21.2963 RBM15 0 genome.wustl.edu 37 1 110884339 110884339 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 110884339 110884339 A G SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known missense c.2312 p.D771G 0.995 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 87 0 0 58 12 17.1429 EXOSC10 0 genome.wustl.edu 37 1 11142746 11142746 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 11142746 11142746 G A SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.1279 p.R427C 1.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 137 0 0 102 24 19.0476 MAGI3 0 genome.wustl.edu 37 1 114092138 114092138 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 114092138 114092138 C T SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known silent c.318 p.G106 0.997 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 52 0 0 39 6 13.3333 DCLRE1B 0 genome.wustl.edu 37 1 114454678 114454678 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 114454678 114454678 G T SNP DCLRE1B ENST00000369563 human ensembl 74_37 +1 known missense c.1464 p.K488N 0.000 NULL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 113 0 0 97 19 16.3793 AMPD1 0 genome.wustl.edu 37 1 115231320 115231320 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 115231320 115231320 G A SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.176 p.A59V 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 146 0 0 145 25 14.7059 IGSF3 0 genome.wustl.edu 37 1 117156651 117156651 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 117156651 117156651 C T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.568 p.E190K 0.998 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 75 0 0 42 10 19.2308 VTCN1 0 genome.wustl.edu 37 1 117699263 117699263 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 117699263 117699263 G A SNP VTCN1 ENST00000359008 human ensembl 74_37 -1 known silent c.387 p.G129 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VTCN1 HGNC ENSG00000134258 66 0 0 65 16 19.7531 GDAP2 0 genome.wustl.edu 37 1 118455168 118455168 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 118455168 118455168 C T SNP GDAP2 ENST00000369443 human ensembl 74_37 -1 known missense c.454 p.V152I 0.983 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom - no_errors GDAP2 HGNC ENSG00000196505 81 0 0 70 8 10.2564 GDAP2 0 genome.wustl.edu 37 1 118461278 118461278 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 118461278 118461278 G A SNP GDAP2 ENST00000369443 human ensembl 74_37 -1 known missense c.257 p.S86L 1.000 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom - no_errors GDAP2 HGNC ENSG00000196505 75 0 0 64 12 15.7895 PLOD1 0 genome.wustl.edu 37 1 12023656 12023656 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 12023656 12023656 G A SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.1306 p.E436K 0.995 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 14 0 0 13 2 13.3333 ADAM30 0 genome.wustl.edu 37 1 120438783 120438783 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 120438783 120438783 G A SNP ADAM30 ENST00000369400 human ensembl 74_37 -1 known silent c.177 p.V59 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 59 0 0 56 13 18.8406 PRDM2 0 genome.wustl.edu 37 1 14057532 14057532 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 14057532 14057532 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.47 p.A16V 0.991 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 97 0 0 60 18 23.0769 PDE4DIP 0 genome.wustl.edu 37 1 144865839 144865839 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 144865839 144865839 A G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.5741 p.L1914P 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 381 0 0 318 33 9.40171 NBPF12 0 genome.wustl.edu 37 1 146399620 146399620 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 146399620 146399620 G A SNP NBPF12 ENST00000446760 human ensembl 74_37 +1 known missense c.559 p.A187T 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 279 0 0 237 16 6.32411 BCL9 0 genome.wustl.edu 37 1 147096003 147096003 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 147096003 147096003 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.3524 p.G1175D 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 27 0 0 22 7 24.1379 SV2A 0 genome.wustl.edu 37 1 149884988 149884988 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 149884988 149884988 G A SNP SV2A ENST00000369146 human ensembl 74_37 -1 known silent c.405 p.G135 0.998 tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 39 0 0 26 7 21.2121 SF3B4 0 genome.wustl.edu 37 1 149898338 149898338 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 149898338 149898338 T C SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known silent c.636 p.A212 0.984 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 63 0 0 41 15 26.7857 ADAMTSL4 0 genome.wustl.edu 37 1 150525383 150525383 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 150525383 150525383 G A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.88 p.G30R 0.323 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 70 0 0 42 4 8.69565 ANXA9 0 genome.wustl.edu 37 1 150958865 150958865 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 150958865 150958865 C T SNP ANXA9 ENST00000368947 human ensembl 74_37 +1 known nonsense c.526 p.Q176* 0.030 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI - no_errors ANXA9 HGNC ENSG00000143412 49 0 0 32 10 23.8095 THEM4 0 genome.wustl.edu 37 1 151861728 151861728 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 151861728 151861728 G A SNP THEM4 ENST00000368814 human ensembl 74_37 -1 known silent c.408 p.C136 0.191 NULL pfam_Thioestr_supf - no_errors THEM4 HGNC ENSG00000159445 63 0 0 45 5 10 TCHH 0 genome.wustl.edu 37 1 152081809 152081809 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 152081809 152081809 T C SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3884 p.E1295G 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 159 0 0 98 21 17.6471 FLG 0 genome.wustl.edu 37 1 152283466 152283466 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 152283466 152283466 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3896 p.R1299Q 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 249 0 0 187 40 17.6211 FLG 0 genome.wustl.edu 37 1 152283470 152283470 + Missense_Mutation SNP A A C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 152283470 152283470 A C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3892 p.S1298A 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 252 0 0 187 42 18.3406 KPRP 0 genome.wustl.edu 37 1 152732436 152732436 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 152732436 152732436 G A SNP KPRP ENST00000368773 human ensembl 74_37 +1 known silent c.372 p.A124 0.000 NULL NULL - no_errors KPRP HGNC ENSG00000203786 302 0 0 240 48 16.6667 S100A14 0 genome.wustl.edu 37 1 153588311 153588311 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 153588311 153588311 G A SNP S100A14 ENST00000344616 human ensembl 74_37 -1 known silent c.24 p.N8 0.134 NULL pfam_S100_Ca-bd_sub - no_errors S100A14 HGNC ENSG00000189334 37 0 0 34 5 12.8205 CRTC2 0 genome.wustl.edu 37 1 153924897 153924897 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 153924897 153924897 C T SNP CRTC2 ENST00000368633 human ensembl 74_37 -1 known missense c.728 p.R243Q 1.000 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 103 0 0 81 20 19.802 AQP10 0 genome.wustl.edu 37 1 154296925 154296925 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 154296925 154296925 C T SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.875 p.A292V 0.050 prints_Aquaporin_10 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 92 0 0 51 11 17.7419 CHRNB2 0 genome.wustl.edu 37 1 154544182 154544182 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 154544182 154544182 C T SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known missense c.883 p.P295S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 107 0 0 75 14 15.7303 ZBTB7B 0 genome.wustl.edu 37 1 154988858 154988858 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 154988858 154988858 C T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known silent c.1419 p.F473 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 28 0 0 32 5 13.5135 CLK2 0 genome.wustl.edu 37 1 155239459 155239459 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 155239459 155239459 G A SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known silent c.219 p.Y73 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 CLK2 HGNC ENSG00000176444 139 0 0 111 12 9.7561 RUSC1 0 genome.wustl.edu 37 1 155292496 155292496 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 155292496 155292496 G A SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.932 p.R311Q 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 83 0 0 48 12 20 GON4L 0 genome.wustl.edu 37 1 155722380 155722380 + Splice_Site SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 155722380 155722380 T C SNP GON4L ENST00000271883 human ensembl 74_37 -1 known splice_site c.5843-2 e29-2 0.994 - - - no_errors GON4L HGNC ENSG00000116580 15 0 0 7 4 36.3636 VHLL 0 genome.wustl.edu 37 1 156268818 156268818 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 156268818 156268818 G A SNP VHLL ENST00000339922 human ensembl 74_37 -1 known missense c.163 p.R55W 0.001 pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom - no_errors VHLL HGNC ENSG00000189030 47 0 0 46 11 19.2982 NTRK1 0 genome.wustl.edu 37 1 156844776 156844776 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 156844776 156844776 C T SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.1330 p.R444W 1.000 prints_Tyr_kinase_neurotrophic_rcpt_1 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 101 0 0 80 17 17.5258 ARHGEF11 0 genome.wustl.edu 37 1 156915860 156915860 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 156915860 156915860 T G SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.2789 p.E930A 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 32 0 0 22 4 15.3846 ARHGEF11 0 genome.wustl.edu 37 1 156925516 156925516 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 156925516 156925516 G A SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.1747 p.P583S 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 211 0 0 169 24 12.4352 ETV3 0 genome.wustl.edu 37 1 157106152 157106152 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 157106152 157106152 C T SNP ETV3 ENST00000460850 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ETV3 HGNC ENSG00000117036 111 0 0 118 21 15.1079 FCRL5 0 genome.wustl.edu 37 1 157494244 157494244 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 157494244 157494244 T C SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known silent c.2064 p.P688 0.009 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 80 0 0 52 12 18.75 FCRL3 0 genome.wustl.edu 37 1 157665164 157665164 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 157665164 157665164 C A SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1384 p.G462C 0.407 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 159 0 0 105 22 17.3228 FCRL3 0 genome.wustl.edu 37 1 157666067 157666067 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 157666067 157666067 G A SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known silent c.895 p.L299 0.044 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 138 0 0 121 10 7.63359 ATP1A2 0 genome.wustl.edu 37 1 160094924 160094924 + Splice_Site SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 160094924 160094924 A G SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known splice_site c.631-2 e7-2 1.000 - - - no_errors ATP1A2 HGNC ENSG00000018625 41 0 0 29 6 17.1429 ATP1A4 0 genome.wustl.edu 37 1 160156152 160156152 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 160156152 160156152 C T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.3056 p.P1019L 0.997 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 ATP1A4 HGNC ENSG00000132681 139 0 0 98 20 16.9492 SLAMF6 0 genome.wustl.edu 37 1 160465878 160465878 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 160465878 160465878 G T SNP SLAMF6 ENST00000368057 human ensembl 74_37 -1 known missense c.355 p.L119M 0.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SLAMF6 HGNC ENSG00000162739 111 0 0 81 15 15.625 ITLN1 0 genome.wustl.edu 37 1 160850999 160850999 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 160850999 160850999 C T SNP ITLN1 ENST00000326245 human ensembl 74_37 -1 known missense c.509 p.R170H 0.919 superfamily_Fibrinogen_a/b/g_C_dom superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN1 HGNC ENSG00000179914 94 0 0 80 14 14.8936 NDUFS2 0 genome.wustl.edu 37 1 161183198 161183198 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 161183198 161183198 T G SNP NDUFS2 ENST00000367993 human ensembl 74_37 +1 known missense c.1145 p.F382C 1.000 pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H - no_errors NDUFS2 HGNC ENSG00000158864 21 0 0 17 3 15 SPEN 0 genome.wustl.edu 37 1 16258453 16258453 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 16258453 16258453 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.5718 p.S1906 0.982 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 105 0 0 70 17 19.5402 EPHA2 0 genome.wustl.edu 37 1 16464386 16464386 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 16464386 16464386 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1274 p.R425H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 55 0 0 30 10 25 NBPF1 0 genome.wustl.edu 37 1 16913543 16913543 + Splice_Site SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 16913543 16913543 A G SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel splice_site c.778+2 e5+2 0.043 - - - no_errors NBPF1 HGNC ENSG00000219481 387 0 0 387 28 6.74699 FMO3 0 genome.wustl.edu 37 1 171076863 171076863 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 171076863 171076863 C T SNP FMO3 ENST00000367755 human ensembl 74_37 +1 known silent c.369 p.G123 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 96 0 0 66 24 26.6667 ATP13A2 0 genome.wustl.edu 37 1 17313587 17313587 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 17313587 17313587 T C SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.3037 p.T1013A 0.964 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 31 0 0 23 10 30.303 RC3H1 0 genome.wustl.edu 37 1 173930312 173930312 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 173930312 173930312 C T SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known missense c.2273 p.R758Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 106 0 0 64 23 26.4368 GPR52 0 genome.wustl.edu 37 1 174417414 174417414 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 174417414 174417414 T C SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known silent c.165 p.I55 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 95 0 0 91 18 16.5138 PADI1 0 genome.wustl.edu 37 1 17566229 17566229 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 17566229 17566229 A T SNP PADI1 ENST00000375471 human ensembl 74_37 +1 known missense c.1583 p.N528I 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 31 0 0 46 4 8 PAPPA2 0 genome.wustl.edu 37 1 176671867 176671867 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 176671867 176671867 T C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.3361 p.S1121P 0.000 tigrfam_Myxo_disulph_rpt pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 36 0 0 41 7 14.5833 LHX4 0 genome.wustl.edu 37 1 180235536 180235536 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 180235536 180235536 C T SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known silent c.258 p.G86 1.000 pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 33 0 0 29 6 17.1429 CACNA1E 0 genome.wustl.edu 37 1 181706764 181706764 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 181706764 181706764 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3526 p.V1176I 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 81 0 0 63 20 24.0964 CACNA1E 0 genome.wustl.edu 37 1 181731743 181731743 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 181731743 181731743 T C SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4639 p.F1547L 1.000 pfam_Ion_trans_dom 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 34 0 0 39 11 22 APOBEC4 0 genome.wustl.edu 37 1 183617241 183617241 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 183617241 183617241 C T SNP APOBEC4 ENST00000308641 human ensembl 74_37 -1 known missense c.676 p.A226T 0.975 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC ENSG00000173627 95 0 0 95 18 15.9292 IVNS1ABP 0 genome.wustl.edu 37 1 185270128 185270128 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 185270128 185270128 T C SNP IVNS1ABP ENST00000367498 human ensembl 74_37 -1 known missense c.1096 p.M366V 1.000 pfam_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 76 0 0 58 12 17.1429 HMCN1 0 genome.wustl.edu 37 1 185931751 185931751 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 185931751 185931751 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.1930 p.A644T 0.002 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 132 0 0 137 21 13.2911 HMCN1 0 genome.wustl.edu 37 1 186092202 186092202 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 186092202 186092202 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.12349 p.R4117C 0.843 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 64 0 0 44 15 25.4237 HMCN1 0 genome.wustl.edu 37 1 186113746 186113746 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 186113746 186113746 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14177 p.G4726D 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 83 0 0 71 15 17.4419 PRG4 0 genome.wustl.edu 37 1 186276755 186276755 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 186276755 186276755 C T SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1904 p.T635I 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 40 0 0 23 7 23.3333 TPR 0 genome.wustl.edu 37 1 186328983 186328983 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 186328983 186328983 C T SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.1337 p.R446H 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 62 0 0 60 16 21.0526 BRINP3 0 genome.wustl.edu 37 1 190129847 190129847 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 190129847 190129847 G A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1135 p.L379F 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 86 0 0 65 19 22.619 BRINP3 0 genome.wustl.edu 37 1 190129967 190129967 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 190129967 190129967 A G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1015 p.S339P 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 113 0 0 96 20 17.2414 CAPZB 0 genome.wustl.edu 37 1 19671710 19671710 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 19671710 19671710 G A SNP CAPZB ENST00000433834 human ensembl 74_37 -1 known missense c.712 p.H238Y 1.000 pfam_CapZ_beta pfam_CapZ_beta,prints_CapZ_beta - no_errors CAPZB HGNC ENSG00000077549 85 0 0 76 4 5 ASPM 0 genome.wustl.edu 37 1 197098315 197098315 + Splice_Site SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 197098315 197098315 A G SNP ASPM ENST00000367409 human ensembl 74_37 -1 known splice_site c.2760+2 e9+2 1.000 - - - no_errors ASPM HGNC ENSG00000066279 80 0 0 60 11 15.493 DENND1B 0 genome.wustl.edu 37 1 197564380 197564380 + Silent SNP A A C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 197564380 197564380 A C SNP DENND1B ENST00000367396 human ensembl 74_37 -1 known silent c.1005 p.A335 0.988 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 DENND1B HGNC ENSG00000213047 242 0 0 214 37 14.741 TMCO4 0 genome.wustl.edu 37 1 20009604 20009604 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 20009604 20009604 T C SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known missense c.1834 p.M612V 0.000 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 49 0 0 37 12 24.4898 CACNA1S 0 genome.wustl.edu 37 1 201023674 201023674 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 201023674 201023674 T G SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.3625 p.S1209R 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_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 23 0 0 17 4 19.0476 PPP1R12B 0 genome.wustl.edu 37 1 202465946 202465946 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 202465946 202465946 C T SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.2486 p.T829M 0.001 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 91 0 0 71 18 20.2247 TMEM183A 0 genome.wustl.edu 37 1 202985125 202985125 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 202985125 202985125 C T SNP TMEM183A ENST00000367242 human ensembl 74_37 +1 known nonsense c.565 p.R189* 1.000 NULL superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 105 0 0 93 22 19.1304 FMOD 0 genome.wustl.edu 37 1 203316449 203316449 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 203316449 203316449 T C SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.950 p.N317S 1.000 pfam_Leu-rich_rpt pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 111 0 0 92 6 6.12245 PIK3C2B 0 genome.wustl.edu 37 1 204418318 204418318 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 204418318 204418318 G T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.2341 p.L781M 1.000 pfam_PI3K_C2_dom,superfamily_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_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 19 0 0 10 5 33.3333 PLA2G2D 0 genome.wustl.edu 37 1 20442089 20442089 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 20442089 20442089 T C SNP PLA2G2D ENST00000375105 human ensembl 74_37 -1 known missense c.203 p.D68G 1.000 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2D HGNC ENSG00000117215 62 0 0 56 8 12.5 MDM4 0 genome.wustl.edu 37 1 204501904 204501904 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 204501904 204501904 T C SNP MDM4 ENST00000367180 human ensembl 74_37 +1 known silent c.351 p.G117 0.018 superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 - no_errors MDM4 HGNC ENSG00000198625 61 0 0 56 13 18.8406 ELK4 0 genome.wustl.edu 37 1 205589189 205589189 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 205589189 205589189 G A SNP ELK4 ENST00000357992 human ensembl 74_37 -1 known missense c.985 p.P329S 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK4 HGNC ENSG00000158711 96 0 0 55 8 12.6984 SLC41A1 0 genome.wustl.edu 37 1 205766095 205766095 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 205766095 205766095 G A SNP SLC41A1 ENST00000367137 human ensembl 74_37 -1 known silent c.1029 p.D343 1.000 NULL pfam_SLC41_membr_dom - no_errors SLC41A1 HGNC ENSG00000133065 27 0 0 24 4 14.2857 CD34 0 genome.wustl.edu 37 1 208061172 208061172 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 208061172 208061172 G A SNP CD34 ENST00000310833 human ensembl 74_37 -1 known nonsense c.1069 p.R357* 1.000 pfam_CD34/Podocalyxin,prints_CD34 pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 48 0 0 45 5 10 SERTAD4 0 genome.wustl.edu 37 1 210411408 210411408 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 210411408 210411408 G A SNP SERTAD4 ENST00000367012 human ensembl 74_37 +1 known missense c.103 p.G35R 0.907 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 97 0 0 84 22 20.7547 TRAF5 0 genome.wustl.edu 37 1 211546014 211546014 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 211546014 211546014 C T SNP TRAF5 ENST00000261464 human ensembl 74_37 +1 known silent c.1644 p.A548 0.620 pfam_MATH,superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 67 0 0 56 13 18.8406 NEK2 0 genome.wustl.edu 37 1 211843642 211843642 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 211843642 211843642 G A SNP NEK2 ENST00000540251 human ensembl 74_37 -1 known missense c.617 p.T206M 0.979 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors NEK2 HGNC ENSG00000117650 160 1 0.621118 116 22 15.942 TMEM206 0 genome.wustl.edu 37 1 212560431 212560431 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 212560431 212560431 C T SNP TMEM206 ENST00000535273 human ensembl 74_37 -1 known missense c.328 p.E110K 0.984 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 47 0 0 42 16 27.5862 PTPN14 0 genome.wustl.edu 37 1 214705976 214705976 + RNA SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 214705976 214705976 G A SNP PTPN14 ENST00000491277 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PTPN14 HGNC ENSG00000152104 145 1 0.684932 101 15 12.931 CENPF 0 genome.wustl.edu 37 1 214792011 214792011 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 214792011 214792011 C T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.455 p.P152L 0.996 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 76 0 0 46 13 22.0339 CENPF 0 genome.wustl.edu 37 1 214819293 214819293 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 214819293 214819293 G A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.6380 p.R2127H 0.995 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 108 1 0.917431 90 20 18.1818 NBPF3 0 genome.wustl.edu 37 1 21795231 21795231 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 21795231 21795231 G A SNP NBPF3 ENST00000318249 human ensembl 74_37 +1 known missense c.184 p.G62S 0.000 NULL pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 171 0 0 131 27 17.0886 SPATA17 0 genome.wustl.edu 37 1 217955552 217955552 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 217955552 217955552 C T SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known missense c.760 p.R254C 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 79 0 0 56 8 12.5 RAB3GAP2 0 genome.wustl.edu 37 1 220324711 220324711 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 220324711 220324711 G A SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.4064 p.A1355V 0.491 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 123 0 0 103 25 19.5312 HSPG2 0 genome.wustl.edu 37 1 22156025 22156025 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 22156025 22156025 T C SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.11843 p.H3948R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 18 0 0 18 2 10 DISP1 0 genome.wustl.edu 37 1 223177546 223177546 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 223177546 223177546 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.2807 p.A936V 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 57 0 0 39 6 13.3333 CAPN2 0 genome.wustl.edu 37 1 223943271 223943271 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 223943271 223943271 G A SNP CAPN2 ENST00000295006 human ensembl 74_37 +1 known missense c.1225 p.V409M 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 31 0 0 20 4 16.6667 ZBTB40 0 genome.wustl.edu 37 1 22839533 22839533 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 22839533 22839533 G A SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known missense c.2578 p.G860R 1.000 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 ZBTB40 HGNC ENSG00000184677 40 0 0 41 13 24.0741 OBSCN 0 genome.wustl.edu 37 1 228509533 228509533 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 228509533 228509533 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.14991 p.S4997 1.000 NULL 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 60 0 0 40 4 9.09091 COG2 0 genome.wustl.edu 37 1 230798937 230798937 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 230798937 230798937 G A SNP COG2 ENST00000366669 human ensembl 74_37 +1 known missense c.351 p.M117I 1.000 pfam_COG_su2_N pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 63 0 0 61 16 20.7792 SIPA1L2 0 genome.wustl.edu 37 1 232626723 232626723 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 232626723 232626723 T C SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.1703 p.E568G 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 83 0 0 73 14 16.092 PCNXL2 0 genome.wustl.edu 37 1 233134062 233134062 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 233134062 233134062 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.5726 p.A1909V 0.002 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 29 0 0 24 4 14.2857 KDM1A 0 genome.wustl.edu 37 1 23409681 23409681 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 23409681 23409681 C T SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known nonsense c.2455 p.R819* 1.000 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 59 0 0 50 10 16.6667 ACTN2 0 genome.wustl.edu 37 1 236902754 236902754 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 236902754 236902754 C A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known silent c.1029 p.I343 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 92 0 0 66 13 16.4557 ACTN2 0 genome.wustl.edu 37 1 236920825 236920825 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 236920825 236920825 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.2194 p.A732T 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 74 0 0 81 10 10.989 CHRM3 0 genome.wustl.edu 37 1 240072247 240072247 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 240072247 240072247 C T SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.1496 p.A499V 1.000 pfam_GPCR_Rhodpsn,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_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 133 0 0 87 24 21.6216 IL22RA1 0 genome.wustl.edu 37 1 24448013 24448013 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 24448013 24448013 T C SNP IL22RA1 ENST00000270800 human ensembl 74_37 -1 novel missense c.1007 p.Q336R 0.018 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 51 0 0 33 11 25 SCCPDH 0 genome.wustl.edu 37 1 246890298 246890298 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 246890298 246890298 G A SNP SCCPDH ENST00000366510 human ensembl 74_37 +1 known missense c.295 p.V99I 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 62 0 0 32 13 28.8889 AHCTF1 0 genome.wustl.edu 37 1 247063740 247063740 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 247063740 247063740 A T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.1176 p.F392L 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 71 0 0 45 17 27.4194 OR6F1 0 genome.wustl.edu 37 1 247875374 247875374 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 247875374 247875374 G A SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known silent c.684 p.I228 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 132 0 0 99 9 8.33333 OR2W3 0 genome.wustl.edu 37 1 248059482 248059482 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 248059482 248059482 C T SNP OR2W3 ENST00000360358 human ensembl 74_37 +1 known silent c.594 p.T198 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 82 0 0 74 19 20.4301 SRRM1 0 genome.wustl.edu 37 1 24993349 24993349 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 24993349 24993349 C T SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known nonsense c.1708 p.R570* 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 19 0 0 20 3 13.0435 CD52 0 genome.wustl.edu 37 1 26646688 26646688 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 26646688 26646688 C T SNP CD52 ENST00000374213 human ensembl 74_37 +1 known silent c.81 p.N27 0.000 NULL NULL - no_errors CD52 HGNC ENSG00000169442 54 0 0 50 15 23.0769 AIM1L 0 genome.wustl.edu 37 1 26669262 26669262 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 26669262 26669262 G T SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known missense c.565 p.L189I 0.998 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 172 0 0 119 29 19.5946 RPS6KA1 0 genome.wustl.edu 37 1 26883502 26883502 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 26883502 26883502 G A SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known missense c.1022 p.R341H 0.995 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 79 0 0 53 6 10.1695 ARID1A 0 genome.wustl.edu 37 1 27094434 27094434 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 27094434 27094434 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.3142 p.P1048S 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd 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 86 0 0 80 19 19.1919 SLC9A1 0 genome.wustl.edu 37 1 27436202 27436202 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 27436202 27436202 C T SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.880 p.G294S 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 134 0 0 81 18 18.1818 HDAC1 0 genome.wustl.edu 37 1 32794717 32794717 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 32794717 32794717 C T SNP HDAC1 ENST00000373548 human ensembl 74_37 +1 known nonsense c.685 p.R229* 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 127 0 0 104 10 8.77193 S100PBP 0 genome.wustl.edu 37 1 33318764 33318764 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 33318764 33318764 C T SNP S100PBP ENST00000373475 human ensembl 74_37 +1 known missense c.1109 p.T370M 0.094 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 80 0 0 50 8 13.7931 CSMD2 0 genome.wustl.edu 37 1 34102053 34102053 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 34102053 34102053 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.4876 p.G1626R 0.115 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 CSMD2 HGNC ENSG00000121904 32 0 0 28 7 20 C1orf94 0 genome.wustl.edu 37 1 34666585 34666585 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 34666585 34666585 C T SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known nonsense c.1222 p.Q408* 0.997 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 14 0 0 14 5 26.3158 DLGAP3 0 genome.wustl.edu 37 1 35334284 35334284 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 35334284 35334284 G A SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.2407 p.R803W 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 36 0 0 34 7 17.0732 NCDN 0 genome.wustl.edu 37 1 36029369 36029369 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 36029369 36029369 C T SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.1612 p.R538C 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 100 0 0 77 27 25.9615 C1orf216 0 genome.wustl.edu 37 1 36181448 36181448 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 36181448 36181448 G A SNP C1orf216 ENST00000270815 human ensembl 74_37 -1 known missense c.475 p.R159C 1.000 NULL NULL - no_errors C1orf216 HGNC ENSG00000142686 117 0 0 90 14 13.4615 AGO1 0 genome.wustl.edu 37 1 36380998 36380998 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 36380998 36380998 G A SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.1883 p.R628Q 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 86 0 0 78 5 6.0241 ADPRHL2 0 genome.wustl.edu 37 1 36558054 36558054 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 36558054 36558054 C T SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.733 p.R245C 0.943 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 57 0 0 36 9 20 MAP7D1 0 genome.wustl.edu 37 1 36638172 36638172 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 36638172 36638172 G A SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.568 p.E190K 0.999 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 17 0 0 13 2 13.3333 LRRC47 0 genome.wustl.edu 37 1 3697831 3697831 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 3697831 3697831 C T SNP LRRC47 ENST00000378251 human ensembl 74_37 -1 known missense c.1573 p.D525N 0.172 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 69 0 0 52 9 14.7541 HPCAL4 0 genome.wustl.edu 37 1 40149806 40149806 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 40149806 40149806 C T SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known missense c.181 p.A61T 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 31 0 0 24 7 22.5806 SCMH1 0 genome.wustl.edu 37 1 41503057 41503057 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 41503057 41503057 G A SNP SCMH1 ENST00000326197 human ensembl 74_37 -1 known missense c.1625 p.A542V 0.884 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 83 0 0 45 19 29.6875 ZMYND12 0 genome.wustl.edu 37 1 42901019 42901019 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 42901019 42901019 T C SNP ZMYND12 ENST00000372565 human ensembl 74_37 -1 known missense c.755 p.Y252C 0.915 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND12 HGNC ENSG00000066185 147 0 0 137 30 17.9641 TMEM125 0 genome.wustl.edu 37 1 43738712 43738712 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 43738712 43738712 C T SNP TMEM125 ENST00000432792 human ensembl 74_37 +1 known missense c.319 p.R107C 1.000 NULL NULL - no_errors TMEM125 HGNC ENSG00000179178 24 0 0 18 3 14.2857 KDM4A 0 genome.wustl.edu 37 1 44137442 44137442 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 44137442 44137442 G A SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.1630 p.V544M 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 113 0 0 70 13 15.6627 PLK3 0 genome.wustl.edu 37 1 45270162 45270162 + Silent SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 45270162 45270162 G T SNP PLK3 ENST00000372201 human ensembl 74_37 +1 known silent c.1494 p.S498 0.040 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK3 HGNC ENSG00000173846 61 0 0 50 13 20.6349 MUTYH 0 genome.wustl.edu 37 1 45799087 45799087 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 45799087 45799087 G A SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.346 p.R116W 0.000 superfamily_DNA_glycosylase pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 52 0 0 43 14 24.5614 RAD54L 0 genome.wustl.edu 37 1 46736382 46736382 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 46736382 46736382 G A SNP RAD54L ENST00000371975 human ensembl 74_37 +1 known missense c.1094 p.R365Q 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 74 0 0 62 13 17.3333 RNF11 0 genome.wustl.edu 37 1 51736936 51736936 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 51736936 51736936 G A SNP RNF11 ENST00000242719 human ensembl 74_37 +1 known missense c.407 p.C136Y 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF11 HGNC ENSG00000123091 75 0 0 68 11 13.9241 MRPL37 0 genome.wustl.edu 37 1 54666207 54666207 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 54666207 54666207 G A SNP MRPL37 ENST00000336230 human ensembl 74_37 +1 known missense c.200 p.R67H 0.809 NULL pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC ENSG00000116221 76 0 0 43 14 24.5614 DAB1 0 genome.wustl.edu 37 1 57610998 57610998 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 57610998 57610998 C T SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.172 p.D58N 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 80 0 0 60 7 10.4478 C1orf87 0 genome.wustl.edu 37 1 60499273 60499273 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 60499273 60499273 T C SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known missense c.904 p.R302G 0.000 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 105 0 0 69 19 21.5909 INADL 0 genome.wustl.edu 37 1 62594566 62594566 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 62594566 62594566 C T SNP INADL ENST00000371158 human ensembl 74_37 +1 known silent c.5220 p.H1740 0.947 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 99 0 0 86 11 11.3402 JAK1 0 genome.wustl.edu 37 1 65323363 65323363 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 65323363 65323363 G A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known silent c.1434 p.T478 0.054 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,smart_SH2,prints_Tyr_kinase_non-rcpt_Jak1,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 76 0 0 48 12 20 SYDE2 0 genome.wustl.edu 37 1 85656333 85656333 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 85656333 85656333 G A SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known missense c.848 p.T283I 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 158 0 0 140 31 18.1287 CLCA2 0 genome.wustl.edu 37 1 86905964 86905964 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 86905964 86905964 G T SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known missense c.1337 p.G446V 0.996 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 96 0 0 70 15 17.6471 GBP1 0 genome.wustl.edu 37 1 89520420 89520420 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 89520420 89520420 T C SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.1610 p.N537S 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 326 0 0 301 38 11.2094 GBP1 0 genome.wustl.edu 37 1 89521715 89521715 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 89521715 89521715 G A SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.1352 p.P451L 0.790 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 187 0 0 204 42 17.0732 HFM1 0 genome.wustl.edu 37 1 91851380 91851380 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 91851380 91851380 A G SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.506 p.I169T 0.951 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 44 0 0 43 8 15.6863 H6PD 0 genome.wustl.edu 37 1 9307041 9307041 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 9307041 9307041 T C SNP H6PD ENST00000377403 human ensembl 74_37 +1 known missense c.644 p.L215P 1.000 prints_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 46 0 0 50 14 21.875 FNBP1L 0 genome.wustl.edu 37 1 93987691 93987691 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 93987691 93987691 C T SNP FNBP1L ENST00000271234 human ensembl 74_37 +1 known missense c.193 p.R65W 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1L HGNC ENSG00000137942 14 0 0 9 6 40 ARHGAP29 0 genome.wustl.edu 37 1 94639435 94639435 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 94639435 94639435 T C SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.3776 p.Q1259R 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 174 0 0 140 34 19.5402 ABCD3 0 genome.wustl.edu 37 1 94955520 94955520 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 94955520 94955520 T C SNP ABCD3 ENST00000454898 human ensembl 74_37 +1 known silent c.1383 p.D461 1.000 superfamily_P-loop_NTPase,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 93 0 0 88 20 18.5185 PIK3CD 0 genome.wustl.edu 37 1 9778917 9778917 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 9778917 9778917 G A SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.1081 p.A361T 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 52 0 0 39 8 17.0213 SFXN3 0 genome.wustl.edu 37 10 102799483 102799483 + RNA SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 102799483 102799483 T C SNP SFXN3 ENST00000466982 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors SFXN3 HGNC ENSG00000107819 18 0 0 16 2 11.1111 TLX1 0 genome.wustl.edu 37 10 102896641 102896641 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 102896641 102896641 G A SNP TLX1 ENST00000370196 human ensembl 74_37 +1 known missense c.964 p.V322I 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors TLX1 HGNC ENSG00000107807 57 0 0 41 10 19.6078 MGEA5 0 genome.wustl.edu 37 10 103563735 103563735 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 103563735 103563735 C T SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known missense c.793 p.E265K 1.000 pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 107 0 0 90 15 14.2857 NT5C2 0 genome.wustl.edu 37 10 104850727 104850727 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 104850727 104850727 C T SNP NT5C2 ENST00000343289 human ensembl 74_37 -1 known missense c.1238 p.R413H 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 71 0 0 74 12 13.9535 INA 0 genome.wustl.edu 37 10 105046873 105046873 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 105046873 105046873 C T SNP INA ENST00000369849 human ensembl 74_37 +1 known missense c.1147 p.L383F 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 49 0 0 35 7 16.6667 PDCD11 0 genome.wustl.edu 37 10 105194617 105194617 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 105194617 105194617 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.3730 p.E1244K 0.001 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 41 0 0 24 4 14.2857 SORCS1 0 genome.wustl.edu 37 10 108431115 108431115 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 108431115 108431115 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2069 p.C690Y 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 155 0 0 114 20 14.9254 SORCS1 0 genome.wustl.edu 37 10 108439027 108439027 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 108439027 108439027 T G SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1727 p.N576T 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 84 0 0 64 10 13.5135 HABP2 0 genome.wustl.edu 37 10 115338458 115338458 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 115338458 115338458 C T SNP HABP2 ENST00000351270 human ensembl 74_37 +1 known missense c.641 p.A214V 0.003 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 110 0 0 72 25 25.7732 VWA2 0 genome.wustl.edu 37 10 116021030 116021030 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 116021030 116021030 C T SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known missense c.347 p.A116V 0.279 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 109 0 0 87 10 10.3093 INPP5F 0 genome.wustl.edu 37 10 121583376 121583376 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 121583376 121583376 G A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.2211 p.M737I 1.000 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 61 0 0 56 6 9.67742 BTBD16 0 genome.wustl.edu 37 10 124089066 124089066 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 124089066 124089066 G A SNP BTBD16 ENST00000368994 human ensembl 74_37 +1 known missense c.986 p.R329H 0.962 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 43 0 0 34 3 8.10811 DMBT1 0 genome.wustl.edu 37 10 124380630 124380630 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 124380630 124380630 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.4955 p.R1652Q 0.934 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 330 0 0 227 54 19.2171 CHST15 0 genome.wustl.edu 37 10 125801922 125801922 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 125801922 125801922 C T SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.928 p.V310M 0.994 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 56 0 0 40 7 14.8936 MGMT 0 genome.wustl.edu 37 10 131506287 131506287 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 131506287 131506287 A G SNP MGMT ENST00000306010 human ensembl 74_37 +1 known missense c.347 p.H116R 1.000 pfam_MethylG_MeTrfase pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd - no_errors MGMT HGNC ENSG00000170430 122 0 0 77 15 16.3043 TCERG1L 0 genome.wustl.edu 37 10 133107496 133107496 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 133107496 133107496 C T SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.409 p.V137I 0.621 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 57 0 0 31 14 31.1111 FAM188A 0 genome.wustl.edu 37 10 15885239 15885239 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 15885239 15885239 C T SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known silent c.207 p.S69 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 139 0 0 102 20 16.3934 NEBL 0 genome.wustl.edu 37 10 21141488 21141488 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 21141488 21141488 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.994 p.V332I 0.197 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,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 44 0 0 34 4 10.5263 BMI1 0 genome.wustl.edu 37 10 22618263 22618263 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 22618263 22618263 C T SNP BMI1 ENST00000376663 human ensembl 74_37 +1 known missense c.773 p.A258V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 94 0 0 67 16 19.2771 KIAA1217 0 genome.wustl.edu 37 10 24833918 24833918 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 24833918 24833918 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.5220 p.S1740 0.018 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 75 0 0 54 13 19.403 MYO3A 0 genome.wustl.edu 37 10 26414415 26414415 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 26414415 26414415 A G SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known silent c.1992 p.R664 0.954 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 109 0 0 97 16 14.1593 GAD2 0 genome.wustl.edu 37 10 26506539 26506539 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 26506539 26506539 C T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.77 p.A26V 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 22 0 0 13 3 18.75 ACBD5 0 genome.wustl.edu 37 10 27497331 27497331 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 27497331 27497331 C T SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known silent c.1275 p.Q425 0.927 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 77 0 0 48 8 14.2857 PTCHD3 0 genome.wustl.edu 37 10 27702350 27702350 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 27702350 27702350 G A SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.830 p.T277M 0.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 27 0 0 36 7 16.2791 MTPAP 0 genome.wustl.edu 37 10 30611528 30611528 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 30611528 30611528 G A SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known silent c.1401 p.S467 0.814 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 46 0 0 31 7 18.4211 PFKP 0 genome.wustl.edu 37 10 3146003 3146003 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 3146003 3146003 G A SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.487 p.A163T 0.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 64 0 0 38 11 22.449 NRP1 0 genome.wustl.edu 37 10 33491741 33491741 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 33491741 33491741 C T SNP NRP1 ENST00000374823 human ensembl 74_37 -1 putative missense c.1942 p.V648M 0.008 pirsf_Neuropilin pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,pirsf_Neuropilin,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors NRP1 HGNC ENSG00000099250 27 0 0 18 6 25 ZNF33A 0 genome.wustl.edu 37 10 38343774 38343774 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 38343774 38343774 A G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.740 p.N247S 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 ZNF33A HGNC ENSG00000189180 109 0 0 89 9 9.18367 HSD17B7P2 0 genome.wustl.edu 37 10 38658885 38658885 + RNA SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 38658885 38658885 G A SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 51 0 0 38 8 17.3913 OR13A1 0 genome.wustl.edu 37 10 45798942 45798942 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 45798942 45798942 A G SNP OR13A1 ENST00000374401 human ensembl 74_37 -1 known missense c.929 p.L310S 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 106 0 0 77 18 18.9474 MARCH8 0 genome.wustl.edu 37 10 45956826 45956826 + Silent SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 45956826 45956826 G T SNP MARCH8 ENST00000319836 human ensembl 74_37 -1 known silent c.276 p.P92 0.227 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH8 HGNC ENSG00000165406 36 0 0 26 8 23.5294 RBP3 0 genome.wustl.edu 37 10 48385926 48385926 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 48385926 48385926 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.3166 p.L1056F 1.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 72 0 0 50 16 24.2424 OGDHL 0 genome.wustl.edu 37 10 50959917 50959917 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 50959917 50959917 G A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known silent c.705 p.S235 0.006 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 153 0 0 96 24 20 CSTF2T 0 genome.wustl.edu 37 10 53458059 53458059 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 53458059 53458059 C T SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known silent c.1251 p.A417 0.744 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 111 0 0 88 18 16.9811 ANK3 0 genome.wustl.edu 37 10 61835822 61835822 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 61835822 61835822 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.4817 p.T1606M 0.949 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 131 0 0 102 19 15.7025 ARID5B 0 genome.wustl.edu 37 10 63759914 63759914 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 63759914 63759914 G A SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known silent c.567 p.S189 0.225 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 77 0 0 82 15 15.4639 TACR2 0 genome.wustl.edu 37 10 71164698 71164698 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 71164698 71164698 C T SNP TACR2 ENST00000373306 human ensembl 74_37 -1 known missense c.1081 p.G361R 0.121 prints_NK2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 62 0 0 37 14 27.451 AIFM2 0 genome.wustl.edu 37 10 71880941 71880941 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 71880941 71880941 C T SNP AIFM2 ENST00000307864 human ensembl 74_37 -1 known silent c.321 p.L107 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like - no_errors AIFM2 HGNC ENSG00000042286 31 0 0 23 12 34.2857 NPFFR1 0 genome.wustl.edu 37 10 72025905 72025905 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 72025905 72025905 T C SNP NPFFR1 ENST00000277942 human ensembl 74_37 -1 novel missense c.250 p.N84D 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_NPFF_rcpt_1,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR1 HGNC ENSG00000148734 61 0 0 49 7 12.5 CDH23 0 genome.wustl.edu 37 10 73538008 73538008 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 73538008 73538008 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative silent c.5145 p.I1715 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 56 0 0 40 12 23.0769 ASCC1 0 genome.wustl.edu 37 10 73912658 73912658 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 73912658 73912658 C T SNP ASCC1 ENST00000342444 human ensembl 74_37 -1 known missense c.799 p.A267T 1.000 pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1 - no_errors ASCC1 HGNC ENSG00000138303 74 0 0 55 10 15.3846 MICU1 0 genome.wustl.edu 37 10 74268011 74268011 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 74268011 74268011 C T SNP MICU1 ENST00000398761 human ensembl 74_37 -1 known missense c.560 p.R187Q 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU1 HGNC ENSG00000107745 13 0 0 18 4 18.1818 PLAU 0 genome.wustl.edu 37 10 75674570 75674570 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 75674570 75674570 C T SNP PLAU ENST00000372764 human ensembl 74_37 +1 known missense c.866 p.A289V 0.992 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 35 0 0 20 8 28.5714 KAT6B 0 genome.wustl.edu 37 10 76788343 76788343 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 76788343 76788343 G A SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.3761 p.R1254H 0.876 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 112 0 0 87 22 20.1835 KIN 0 genome.wustl.edu 37 10 7829837 7829837 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 7829837 7829837 C T SNP KIN ENST00000379562 human ensembl 74_37 -1 known silent c.60 p.G20 0.651 NULL pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC ENSG00000151657 103 0 0 62 14 18.4211 TAF3 0 genome.wustl.edu 37 10 8007484 8007484 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 8007484 8007484 G A SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.2011 p.A671T 0.442 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 73 0 0 56 12 17.6471 SFTPD 0 genome.wustl.edu 37 10 81701740 81701740 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 81701740 81701740 G A SNP SFTPD ENST00000372292 human ensembl 74_37 -1 known missense c.520 p.R174C 0.009 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC ENSG00000133661 70 0 0 46 11 19.2982 NRG3 0 genome.wustl.edu 37 10 84711311 84711311 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 84711311 84711311 T C SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1141 p.F381L 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 100 0 0 119 26 17.931 RGR 0 genome.wustl.edu 37 10 86014126 86014126 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 86014126 86014126 C T SNP RGR ENST00000359452 human ensembl 74_37 +1 known missense c.569 p.A190V 0.344 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn - no_errors RGR HGNC ENSG00000148604 105 0 0 65 13 16.6667 GRID1 0 genome.wustl.edu 37 10 87407104 87407104 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 87407104 87407104 C T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.2048 p.R683Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 313 0 0 220 56 20.2899 PTEN 0 genome.wustl.edu 37 10 89653868 89653868 + Splice_Site SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 89653868 89653868 T C SNP PTEN ENST00000371953 human ensembl 74_37 +1 known splice_site c.164+2 e2+2 1.000 - - - no_errors PTEN HGNC ENSG00000171862 58 0 0 61 14 18.6667 FAS 0 genome.wustl.edu 37 10 90774042 90774042 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 90774042 90774042 G A SNP FAS ENST00000355740 human ensembl 74_37 +1 known nonsense c.843 p.W281* 0.999 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC ENSG00000026103 137 0 0 108 22 16.9231 MYOF 0 genome.wustl.edu 37 10 95169361 95169361 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 95169361 95169361 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.569 p.R190Q 0.988 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 263 0 0 194 34 14.9123 SORBS1 0 genome.wustl.edu 37 10 97194450 97194450 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 97194450 97194450 C T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.101 p.R34H 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 70 0 0 63 17 21.25 TLL2 0 genome.wustl.edu 37 10 98146799 98146799 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 98146799 98146799 C T SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known missense c.1763 p.C588Y 1.000 pirsf_BMP_1/tolloid-like,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_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 TLL2 HGNC ENSG00000095587 56 0 0 33 9 21.4286 SLIT1 0 genome.wustl.edu 37 10 98760984 98760984 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 98760984 98760984 C T SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.4490 p.C1497Y 1.000 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 66 0 0 41 8 16.3265 CRTAC1 0 genome.wustl.edu 37 10 99655720 99655720 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 99655720 99655720 G A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known silent c.1239 p.D413 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 47 0 0 34 8 19.0476 CNTN5 0 genome.wustl.edu 37 11 100211310 100211310 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 100211310 100211310 C T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2846 p.T949I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 46 0 0 52 5 8.77193 DYNC2H1 0 genome.wustl.edu 37 11 103090682 103090682 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 103090682 103090682 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.8871 p.K2957N 0.975 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 38 0 0 33 5 13.1579 DYNC2H1 0 genome.wustl.edu 37 11 103128425 103128425 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 103128425 103128425 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.10571 p.R3524H 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,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 25 0 0 14 5 26.3158 CTR9 0 genome.wustl.edu 37 11 10793117 10793117 + Nonsense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 10793117 10793117 G T SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known nonsense c.2398 p.G800* 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 111 0 0 94 12 11.3208 DLAT 0 genome.wustl.edu 37 11 111922036 111922036 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 111922036 111922036 G A SNP DLAT ENST00000280346 human ensembl 74_37 +1 known missense c.1477 p.E493K 1.000 pfam_2-oxoacid_DH_actylTfrase,tigrfam_LAT1 pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 94 0 0 54 13 19.403 DRD2 0 genome.wustl.edu 37 11 113286314 113286314 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 113286314 113286314 A G SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known silent c.552 p.I184 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 30 0 0 19 3 13.6364 NNMT 0 genome.wustl.edu 37 11 114168792 114168792 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 114168792 114168792 C T SNP NNMT ENST00000299964 human ensembl 74_37 +1 known nonsense c.274 p.Q92* 0.304 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 77 0 0 78 11 12.3596 DSCAML1 0 genome.wustl.edu 37 11 117651330 117651330 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 117651330 117651330 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.422 p.T141M 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 111 0 0 70 14 16.6667 TMPRSS4 0 genome.wustl.edu 37 11 117985906 117985906 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 117985906 117985906 C T SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known missense c.1063 p.R355W 0.009 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 36 0 0 13 4 23.5294 CD3E 0 genome.wustl.edu 37 11 118183570 118183570 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 118183570 118183570 T C SNP CD3E ENST00000361763 human ensembl 74_37 +1 known missense c.341 p.L114P 1.000 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3E HGNC ENSG00000198851 75 0 0 54 11 16.9231 OAF 0 genome.wustl.edu 37 11 120096485 120096485 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 120096485 120096485 C T SNP OAF ENST00000328965 human ensembl 74_37 +1 known missense c.347 p.A116V 1.000 NULL NULL - no_errors OAF HGNC ENSG00000184232 112 0 0 67 21 23.8636 GRIK4 0 genome.wustl.edu 37 11 120702613 120702613 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 120702613 120702613 G A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.564 p.T188 0.729 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 57 0 0 54 6 10 TBCEL 0 genome.wustl.edu 37 11 120925921 120925921 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 120925921 120925921 G A SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known missense c.616 p.V206I 0.943 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 70 0 0 52 6 10.3448 OR8G1 0 genome.wustl.edu 37 11 124120712 124120712 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 124120712 124120712 G A SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.290 p.C97Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G1 HGNC ENSG00000197849 132 0 0 93 21 18.4211 SRPR 0 genome.wustl.edu 37 11 126134982 126134982 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 126134982 126134982 C T SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.1397 p.R466H 1.000 pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom 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 35 0 0 23 2 8 MUC5B 0 genome.wustl.edu 37 11 1263879 1263879 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 1263879 1263879 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.5778 p.T1926 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 130 0 0 95 27 22.1311 KCNJ1 0 genome.wustl.edu 37 11 128709289 128709289 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 128709289 128709289 A G SNP KCNJ1 ENST00000392664 human ensembl 74_37 -1 known missense c.907 p.S303P 0.976 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ1 HGNC ENSG00000151704 61 0 0 55 12 17.9104 ARHGAP32 0 genome.wustl.edu 37 11 128842510 128842510 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 128842510 128842510 A G SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.3849 p.A1283 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 83 0 0 60 10 14.2857 APLP2 0 genome.wustl.edu 37 11 129992333 129992333 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 129992333 129992333 T C SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.847 p.Y283H 0.986 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 88 0 0 78 15 16.129 BRSK2 0 genome.wustl.edu 37 11 1467040 1467040 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 1467040 1467040 C T SNP BRSK2 ENST00000382179 human ensembl 74_37 +1 known missense c.1267 p.R423W 0.993 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 BRSK2 HGNC ENSG00000174672 22 0 0 38 7 15.5556 PIK3C2A 0 genome.wustl.edu 37 11 17134211 17134211 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 17134211 17134211 C T SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known silent c.3324 p.S1108 0.492 superfamily_Kinase-like_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 131 0 0 99 20 16.8067 ABCC8 0 genome.wustl.edu 37 11 17483300 17483300 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 17483300 17483300 G T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.652 p.L218M 1.000 prints_Sulphorea_rcpt pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 109 0 0 84 9 9.67742 MYOD1 0 genome.wustl.edu 37 11 17741380 17741380 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 17741380 17741380 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known silent c.51 p.D17 1.000 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 71 0 0 43 8 15.6863 E2F8 0 genome.wustl.edu 37 11 19256468 19256468 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 19256468 19256468 C T SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known missense c.589 p.G197R 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 73 0 0 52 6 10.3448 KIF18A 0 genome.wustl.edu 37 11 28045380 28045380 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 28045380 28045380 G A SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.2522 p.S841L 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 45 0 0 38 10 20.8333 NLRP6 0 genome.wustl.edu 37 11 281195 281195 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 281195 281195 C T SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known silent c.1461 p.G487 0.001 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 NLRP6 HGNC ENSG00000174885 96 0 0 83 20 19.4175 DCDC1 0 genome.wustl.edu 37 11 30926645 30926645 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 30926645 30926645 G A SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.1408 p.R470W 0.982 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 37 0 0 37 9 19.5652 OSBPL5 0 genome.wustl.edu 37 11 3111807 3111807 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 3111807 3111807 C T SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known silent c.2379 p.Q793 0.646 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 36 0 0 16 6 27.2727 CCDC73 0 genome.wustl.edu 37 11 32636061 32636061 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 32636061 32636061 G A SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known silent c.1803 p.F601 0.165 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 55 0 0 51 6 10.5263 TSSC2 0 genome.wustl.edu 37 11 3423077 3423077 + RNA SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 3423077 3423077 G A SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TSSC2 HGNC ENSG00000223756 28 0 0 27 4 12.9032 PDHX 0 genome.wustl.edu 37 11 35006241 35006241 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 35006241 35006241 C T SNP PDHX ENST00000227868 human ensembl 74_37 +1 known missense c.1148 p.A383V 0.883 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 127 0 0 91 21 18.75 CD44 0 genome.wustl.edu 37 11 35211585 35211585 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 35211585 35211585 G A SNP CD44 ENST00000428726 human ensembl 74_37 +1 known missense c.640 p.D214N 0.000 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 117 1 0.847458 71 25 26.0417 ART5 0 genome.wustl.edu 37 11 3661166 3661166 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 3661166 3661166 G A SNP ART5 ENST00000359918 human ensembl 74_37 -1 known missense c.493 p.L165F 1.000 pfam_ART pfam_ART,prints_ART - no_errors ART5 HGNC ENSG00000167311 43 0 0 39 8 17.0213 STIM1 0 genome.wustl.edu 37 11 4103494 4103494 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 4103494 4103494 G A SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known nonsense c.1050 p.W350* 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 60 0 0 46 20 30.303 STIM1 0 genome.wustl.edu 37 11 4112533 4112533 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 4112533 4112533 G A SNP STIM1 ENST00000527651 human ensembl 74_37 +1 novel missense c.1600 p.G534R 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 76 0 0 60 12 16.6667 ACCS 0 genome.wustl.edu 37 11 44105261 44105261 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 44105261 44105261 G A SNP ACCS ENST00000263776 human ensembl 74_37 +1 known silent c.1425 p.Q475 0.999 superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 22 0 0 22 3 12 EXT2 0 genome.wustl.edu 37 11 44135753 44135753 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 44135753 44135753 C T SNP EXT2 ENST00000395673 human ensembl 74_37 +1 known silent c.744 p.G248 0.238 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 88 0 0 58 10 14.7059 TRIM68 0 genome.wustl.edu 37 11 4621714 4621714 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 4621714 4621714 G A SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.1250 p.P417L 0.219 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,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,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 82 0 0 50 14 21.875 OR51E1 0 genome.wustl.edu 37 11 4674693 4674693 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 4674693 4674693 A G SNP OR51E1 ENST00000396952 human ensembl 74_37 +1 known missense c.937 p.T313A 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E1 HGNC ENSG00000180785 87 0 0 99 6 5.71429 PTPRJ 0 genome.wustl.edu 37 11 48134376 48134376 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 48134376 48134376 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.193 p.A65T 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 134 0 0 115 11 8.73016 PTDSS2 0 genome.wustl.edu 37 11 487453 487453 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 487453 487453 C A SNP PTDSS2 ENST00000308020 human ensembl 74_37 +1 known missense c.604 p.L202I 0.656 pfam_PSS pfam_PSS - no_errors PTDSS2 HGNC ENSG00000174915 78 0 0 63 11 14.8649 OR4C15 0 genome.wustl.edu 37 11 55322311 55322311 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 55322311 55322311 G A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.529 p.V177M 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 OR4C15 HGNC ENSG00000181939 81 0 0 73 8 9.87654 OR5L1 0 genome.wustl.edu 37 11 55579394 55579394 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 55579394 55579394 G T SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.452 p.C151F 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 131 1 0.757576 105 32 23.3577 OR5D16 0 genome.wustl.edu 37 11 55606783 55606783 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 55606783 55606783 C A SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.556 p.L186M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 102 1 0.970874 74 15 16.8539 OR8U1 0 genome.wustl.edu 37 11 56143445 56143445 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 56143445 56143445 G A SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.346 p.A116T 0.772 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 OR8U1 HGNC ENSG00000172199 147 0 0 116 35 23.1788 OR5M8 0 genome.wustl.edu 37 11 56258583 56258583 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 56258583 56258583 C A SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.264 p.K88N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 123 0 0 90 14 13.4615 OR5M10 0 genome.wustl.edu 37 11 56345140 56345140 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 56345140 56345140 C T SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.58 p.D20N 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 118 0 0 100 24 19.3548 TRIM5 0 genome.wustl.edu 37 11 5699619 5699619 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 5699619 5699619 G A SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known nonsense c.559 p.Q187* 0.000 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,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 79 0 0 64 22 25.5814 SLC43A1 0 genome.wustl.edu 37 11 57263539 57263539 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 57263539 57263539 G A SNP SLC43A1 ENST00000278426 human ensembl 74_37 -1 known silent c.657 p.I219 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 32 0 0 33 4 10.8108 OR9I1 0 genome.wustl.edu 37 11 57886596 57886596 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 57886596 57886596 A G SNP OR9I1 ENST00000302610 human ensembl 74_37 -1 known silent c.321 p.C107 0.961 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR9I1 HGNC ENSG00000172377 51 0 0 38 8 17.3913 GLYATL2 0 genome.wustl.edu 37 11 58604809 58604809 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 58604809 58604809 T C SNP GLYATL2 ENST00000287275 human ensembl 74_37 -1 known missense c.248 p.D83G 0.003 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL2 HGNC ENSG00000156689 112 0 0 96 22 18.6441 OR10V1 0 genome.wustl.edu 37 11 59480554 59480554 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 59480554 59480554 G A SNP OR10V1 ENST00000307552 human ensembl 74_37 -1 known silent c.765 p.C255 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10V1 HGNC ENSG00000172289 66 0 0 59 14 19.1781 MRPL16 0 genome.wustl.edu 37 11 59574080 59574080 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 59574080 59574080 G A SNP MRPL16 ENST00000300151 human ensembl 74_37 -1 known missense c.496 p.R166C 0.956 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 - no_errors MRPL16 HGNC ENSG00000166902 83 0 0 47 14 22.9508 TMEM132A 0 genome.wustl.edu 37 11 60704376 60704376 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 60704376 60704376 C A SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known silent c.3072 p.S1024 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 15 0 0 15 5 25 SLC15A3 0 genome.wustl.edu 37 11 60707056 60707056 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 60707056 60707056 T C SNP SLC15A3 ENST00000227880 human ensembl 74_37 -1 known missense c.1331 p.Q444R 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 43 0 0 41 8 16.3265 CD6 0 genome.wustl.edu 37 11 60783258 60783258 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 60783258 60783258 G A SNP CD6 ENST00000313421 human ensembl 74_37 +1 known silent c.1461 p.E487 1.000 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 59 0 0 39 10 20.4082 DAK 0 genome.wustl.edu 37 11 61110231 61110231 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 61110231 61110231 C A SNP DAK ENST00000394900 human ensembl 74_37 +1 known silent c.780 p.S260 0.063 pfam_Dak1,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 39 0 0 23 7 23.3333 CDHR5 0 genome.wustl.edu 37 11 619769 619769 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 619769 619769 G A SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known missense c.1091 p.A364V 0.228 superfamily_Cadherin-like,pfscan_Cadherin superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 18 0 0 20 2 9.09091 AHNAK 0 genome.wustl.edu 37 11 62292451 62292451 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 62292451 62292451 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known nonsense c.9438 p.W3146* 0.953 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 254 0 0 254 52 16.9935 METTL12 0 genome.wustl.edu 37 11 62433383 62433383 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 62433383 62433383 C T SNP METTL12 ENST00000532971 human ensembl 74_37 +1 known missense c.32 p.P11L 0.000 NULL pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 54 0 0 30 9 23.0769 UBXN1 0 genome.wustl.edu 37 11 62446025 62446025 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 62446025 62446025 A G SNP UBXN1 ENST00000294119 human ensembl 74_37 -1 known silent c.162 p.T54 0.001 superfamily_UBA-like pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 67 0 0 58 16 21.6216 CCKBR 0 genome.wustl.edu 37 11 6291537 6291537 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 6291537 6291537 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.623 p.R208H 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 72 0 0 41 4 8.88889 CCKBR 0 genome.wustl.edu 37 11 6292725 6292725 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 6292725 6292725 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.1503 p.S501 0.003 prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 72 0 0 44 12 21.4286 PLCB3 0 genome.wustl.edu 37 11 64026040 64026040 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 64026040 64026040 C T SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.1108 p.P370S 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 67 0 0 39 14 26.4151 GPR137 0 genome.wustl.edu 37 11 64054479 64054479 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 64054479 64054479 C T SNP GPR137 ENST00000313074 human ensembl 74_37 +1 known nonsense c.400 p.R134* 0.996 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 24 0 0 11 3 21.4286 APBB1 0 genome.wustl.edu 37 11 6424925 6424925 + Silent SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 6424925 6424925 G T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known silent c.849 p.P283 0.480 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 37 0 0 41 4 8.88889 SLC22A11 0 genome.wustl.edu 37 11 64329603 64329603 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 64329603 64329603 G A SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known missense c.625 p.G209S 0.521 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 41 0 0 22 7 24.1379 NRXN2 0 genome.wustl.edu 37 11 64428294 64428294 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 64428294 64428294 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known nonsense c.2116 p.R706* 0.998 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom 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 64 0 0 47 6 11.3208 VPS51 0 genome.wustl.edu 37 11 64878997 64878997 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 64878997 64878997 C T SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.2287 p.R763C 1.000 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 50 0 0 36 4 10 CAPN1 0 genome.wustl.edu 37 11 64977874 64977874 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 64977874 64977874 C T SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known silent c.2010 p.V670 0.982 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 21 0 0 13 3 18.75 PELI3 0 genome.wustl.edu 37 11 66241301 66241301 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 66241301 66241301 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.745 p.E249K 0.999 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 32 0 0 27 9 25 DPP3 0 genome.wustl.edu 37 11 66249898 66249898 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 66249898 66249898 G A SNP DPP3 ENST00000360510 human ensembl 74_37 +1 known missense c.227 p.R76H 0.035 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 41 0 0 32 11 25.5814 DPP3 0 genome.wustl.edu 37 11 66262922 66262922 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 66262922 66262922 C T SNP DPP3 ENST00000360510 human ensembl 74_37 +1 known silent c.1539 p.S513 0.964 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 16 0 0 16 5 23.8095 SPTBN2 0 genome.wustl.edu 37 11 66475139 66475139 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 66475139 66475139 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.1501 p.R501C 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 29 0 0 21 5 19.2308 DCHS1 0 genome.wustl.edu 37 11 6655115 6655115 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 6655115 6655115 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.2123 p.R708H 0.945 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 72 0 0 64 7 9.85915 DCHS1 0 genome.wustl.edu 37 11 6661810 6661810 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 6661810 6661810 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.1035 p.S345 0.705 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 142 0 0 80 27 25.2336 SSH3 0 genome.wustl.edu 37 11 67076941 67076941 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 67076941 67076941 C T SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.1135 p.R379C 0.999 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_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 52 0 0 31 6 16.2162 CARNS1 0 genome.wustl.edu 37 11 67191613 67191613 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 67191613 67191613 C T SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known silent c.2394 p.N798 0.891 pfscan_ATP-grasp superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 28 0 0 20 5 20 RBMXL2 0 genome.wustl.edu 37 11 7111248 7111248 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 7111248 7111248 G A SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.897 p.P299 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 24 0 0 15 4 21.0526 NUMA1 0 genome.wustl.edu 37 11 71725087 71725087 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 71725087 71725087 C T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known silent c.3462 p.R1154 0.005 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 48 0 0 51 4 7.27273 NUMA1 0 genome.wustl.edu 37 11 71725245 71725245 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 71725245 71725245 C T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.3304 p.A1102T 0.013 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 113 0 0 78 20 20.4082 ANAPC15 0 genome.wustl.edu 37 11 71821248 71821248 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 71821248 71821248 C A SNP ANAPC15 ENST00000227618 human ensembl 74_37 -1 known missense c.204 p.E68D 0.874 NULL NULL - no_errors ANAPC15 HGNC ENSG00000110200 167 0 0 154 23 12.9944 RELT 0 genome.wustl.edu 37 11 73106159 73106159 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 73106159 73106159 G A SNP RELT ENST00000064780 human ensembl 74_37 +1 known silent c.1074 p.Q358 1.000 NULL pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 73 0 0 49 13 20.9677 DNAJB13 0 genome.wustl.edu 37 11 73679454 73679454 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 73679454 73679454 G A SNP DNAJB13 ENST00000339764 human ensembl 74_37 +1 known missense c.671 p.R224H 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB13 HGNC ENSG00000187726 73 0 0 33 7 17.5 TALDO1 0 genome.wustl.edu 37 11 763457 763457 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 763457 763457 G A SNP TALDO1 ENST00000319006 human ensembl 74_37 +1 known missense c.575 p.R192H 1.000 pfam_Transaldolase,tigrfam_Transaldolase_1 pfam_Transaldolase,tigrfam_Transaldolase_1 - no_errors TALDO1 HGNC ENSG00000177156 171 1 0.581395 89 26 22.6087 RSF1 0 genome.wustl.edu 37 11 77386207 77386207 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 77386207 77386207 G A SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.3436 p.R1146C 0.987 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 68 0 0 57 15 20.8333 KCTD21 0 genome.wustl.edu 37 11 77884897 77884897 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 77884897 77884897 C T SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known missense c.704 p.G235D 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 145 0 0 134 32 19.2771 PIDD 0 genome.wustl.edu 37 11 799897 799897 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 799897 799897 G A SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.2392 p.R798C 0.979 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 14 0 0 10 4 28.5714 PRCP 0 genome.wustl.edu 37 11 82560971 82560971 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 82560971 82560971 G A SNP PRCP ENST00000393399 human ensembl 74_37 -1 known nonsense c.799 p.R267* 0.001 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 78 0 0 73 17 18.8889 DLG2 0 genome.wustl.edu 37 11 83984291 83984291 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 83984291 83984291 C T SNP DLG2 ENST00000418306 human ensembl 74_37 -1 known missense c.8 p.R3Q 1.000 pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_PDZ_assoc,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 27 0 0 22 5 18.5185 SYTL2 0 genome.wustl.edu 37 11 85436047 85436047 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 85436047 85436047 C T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.3025 p.A1009T 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 144 0 0 108 21 16.2791 CCDC83 0 genome.wustl.edu 37 11 85622403 85622403 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 85622403 85622403 A T SNP CCDC83 ENST00000280245 human ensembl 74_37 +1 known missense c.752 p.D251V 0.575 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 107 0 0 106 12 10.1695 PICALM 0 genome.wustl.edu 37 11 85689112 85689112 + Splice_Site SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 85689112 85689112 C T SNP PICALM ENST00000532317 human ensembl 74_37 -1 known splice_site c.1653+1 e17+1 1.000 - - - no_errors PICALM HGNC ENSG00000073921 114 0 0 74 21 22.1053 CCDC81 0 genome.wustl.edu 37 11 86123507 86123507 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 86123507 86123507 C A SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known missense c.1297 p.L433M 1.000 NULL superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 107 0 0 86 14 14 UHRF1BP1L 0 genome.wustl.edu 37 12 100452815 100452815 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 100452815 100452815 A G SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.2240 p.V747A 0.001 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 142 0 0 113 19 14.3939 SLC17A8 0 genome.wustl.edu 37 12 100790165 100790165 + Silent SNP A A C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 100790165 100790165 A C SNP SLC17A8 ENST00000323346 human ensembl 74_37 +1 known silent c.646 p.R216 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 36 0 0 25 5 16.6667 GABARAPL1 0 genome.wustl.edu 37 12 10374385 10374385 + Splice_Site SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 10374385 10374385 G A SNP GABARAPL1 ENST00000266458 human ensembl 74_37 +1 known splice_site c.289-1 e4-1 1.000 - - - no_errors GABARAPL1 HGNC ENSG00000139112 42 0 0 28 6 17.6471 TCP11L2 0 genome.wustl.edu 37 12 106715425 106715425 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 106715425 106715425 C T SNP TCP11L2 ENST00000299045 human ensembl 74_37 +1 known silent c.576 p.P192 0.005 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 112 0 0 94 20 17.5439 BTBD11 0 genome.wustl.edu 37 12 108011205 108011205 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 108011205 108011205 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known silent c.2223 p.H741 0.986 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 46 0 0 32 5 13.5135 WSCD2 0 genome.wustl.edu 37 12 108603945 108603945 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 108603945 108603945 G A SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.545 p.G182D 1.000 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 23 0 0 13 9 40.9091 SART3 0 genome.wustl.edu 37 12 108942899 108942899 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 108942899 108942899 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.404 p.R135H 1.000 smart_HAT pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 75 0 0 63 7 10 SART3 0 genome.wustl.edu 37 12 108954646 108954646 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 108954646 108954646 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known silent c.285 p.Q95 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 24 0 0 14 5 26.3158 GPN3 0 genome.wustl.edu 37 12 110897617 110897617 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 110897617 110897617 G A SNP GPN3 ENST00000543199 human ensembl 74_37 -1 known nonsense c.325 p.R109* 0.841 pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase - no_errors GPN3 HGNC ENSG00000111231 118 0 0 110 23 17.2932 TAS2R50 0 genome.wustl.edu 37 12 11139175 11139175 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 11139175 11139175 G A SNP TAS2R50 ENST00000506868 human ensembl 74_37 -1 known silent c.285 p.S95 0.435 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 155 0 0 151 16 9.58084 PRB1 0 genome.wustl.edu 37 12 11506766 11506766 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 11506766 11506766 G A SNP PRB1 ENST00000500254 human ensembl 74_37 -1 known nonsense c.271 p.R91* 0.997 NULL NULL - no_errors PRB1 HGNC ENSG00000251655 181 0 0 86 51 37.2263 NOS1 0 genome.wustl.edu 37 12 117710317 117710317 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 117710317 117710317 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1712 p.A571V 0.999 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 55 0 0 35 6 14.6341 NOS1 0 genome.wustl.edu 37 12 117723955 117723955 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 117723955 117723955 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1244 p.R415Q 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 74 0 0 67 5 6.94444 GCN1L1 0 genome.wustl.edu 37 12 120589033 120589033 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 120589033 120589033 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.4225 p.G1409S 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 45 0 0 21 7 25 SIRT4 0 genome.wustl.edu 37 12 120750802 120750802 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 120750802 120750802 G A SNP SIRT4 ENST00000202967 human ensembl 74_37 +1 known missense c.908 p.R303H 1.000 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC ENSG00000089163 112 0 0 73 32 30.4762 C12orf43 0 genome.wustl.edu 37 12 121448638 121448638 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 121448638 121448638 G A SNP C12orf43 ENST00000288757 human ensembl 74_37 -1 known silent c.280 p.L94 0.902 NULL NULL - no_errors C12orf43 HGNC ENSG00000157895 95 0 0 70 19 21.3483 LRRC43 0 genome.wustl.edu 37 12 122677528 122677528 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 122677528 122677528 T A SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.1326 p.D442E 0.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 35 0 0 20 6 23.0769 KNTC1 0 genome.wustl.edu 37 12 123060124 123060124 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 123060124 123060124 C T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.2417 p.A806V 0.909 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 26 0 0 19 4 17.3913 MANSC1 0 genome.wustl.edu 37 12 12491444 12491444 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 12491444 12491444 G A SNP MANSC1 ENST00000535902 human ensembl 74_37 -1 known nonsense c.274 p.Q92* 0.890 pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC1 HGNC ENSG00000111261 125 0 0 80 15 15.7895 AACS 0 genome.wustl.edu 37 12 125613986 125613986 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 125613986 125613986 C T SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.1529 p.A510V 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 170 0 0 158 15 8.67052 TMEM132B 0 genome.wustl.edu 37 12 126004054 126004054 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 126004054 126004054 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known silent c.1161 p.G387 0.613 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 67 0 0 51 15 22.7273 TMEM132D 0 genome.wustl.edu 37 12 130184915 130184915 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 130184915 130184915 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.408 p.D136 0.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 58 0 0 29 13 30.9524 SFSWAP 0 genome.wustl.edu 37 12 132238992 132238992 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 132238992 132238992 G A SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.1402 p.A468T 1.000 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 52 0 0 29 14 32.5581 SFSWAP 0 genome.wustl.edu 37 12 132281835 132281835 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 132281835 132281835 G A SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.2647 p.A883T 0.008 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 47 0 0 29 5 14.7059 EP400 0 genome.wustl.edu 37 12 132514298 132514298 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 132514298 132514298 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.5542 p.P1848S 0.985 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 28 0 0 20 5 20 ATF7IP 0 genome.wustl.edu 37 12 14650841 14650841 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 14650841 14650841 T C SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.3647 p.I1216T 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 68 0 0 72 12 14.2857 LRTM2 0 genome.wustl.edu 37 12 1943444 1943444 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 1943444 1943444 G A SNP LRTM2 ENST00000299194 human ensembl 74_37 +1 known missense c.670 p.D224N 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 21 0 0 21 5 19.2308 ABCC9 0 genome.wustl.edu 37 12 22005044 22005044 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 22005044 22005044 T C SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2756 p.Q919R 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 45 0 0 46 7 13.2075 ABCC9 0 genome.wustl.edu 37 12 22015949 22015949 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 22015949 22015949 A G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known silent c.2277 p.P759 0.718 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 43 0 0 42 4 8.69565 SOX5 0 genome.wustl.edu 37 12 23893839 23893839 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 23893839 23893839 G A SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.703 p.R235C 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 74 0 0 39 9 18.75 CASC1 0 genome.wustl.edu 37 12 25267796 25267796 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 25267796 25267796 A G SNP CASC1 ENST00000395987 human ensembl 74_37 -1 known missense c.1405 p.W469R 0.980 prints_Casc1 pfam_Casc1_domain,prints_Casc1 - no_errors CASC1 HGNC ENSG00000118307 47 0 0 32 6 15.7895 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 16 0 0 25 7 21.875 CACNA1C 0 genome.wustl.edu 37 12 2566787 2566787 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 2566787 2566787 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.672 p.L224 0.022 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 112 0 0 100 17 14.5299 IFLTD1 0 genome.wustl.edu 37 12 25679780 25679780 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 25679780 25679780 G T SNP IFLTD1 ENST00000458174 human ensembl 74_37 -1 known missense c.601 p.Q201K 1.000 pfam_Lamin_tail_dom pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 84 0 0 72 12 14.2857 CACNA1C 0 genome.wustl.edu 37 12 2602496 2602496 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 2602496 2602496 A G SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.1057 p.M353V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 187 0 0 161 29 15.2632 ARNTL2 0 genome.wustl.edu 37 12 27568857 27568857 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 27568857 27568857 A G SNP ARNTL2 ENST00000266503 human ensembl 74_37 +1 known missense c.1642 p.T548A 0.000 NULL pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL2 HGNC ENSG00000029153 54 0 0 48 4 7.69231 ITFG2 0 genome.wustl.edu 37 12 2921981 2921981 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 2921981 2921981 T G SNP ITFG2 ENST00000228799 human ensembl 74_37 +1 known missense c.55 p.F19V 1.000 pfam_FG-GAP pfam_FG-GAP,superfamily_WD40_repeat_dom - no_errors ITFG2 HGNC ENSG00000111203 94 0 0 70 7 9.09091 PKP2 0 genome.wustl.edu 37 12 32996207 32996207 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 32996207 32996207 G A SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known silent c.1419 p.G473 0.001 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 42 0 0 44 8 15.3846 ALG10 0 genome.wustl.edu 37 12 34179081 34179081 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 34179081 34179081 A T SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known missense c.653 p.D218V 0.999 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 162 0 0 146 15 9.31677 ADAMTS20 0 genome.wustl.edu 37 12 43846079 43846079 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 43846079 43846079 T G SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.2077 p.M693L 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 64 0 0 51 12 19.0476 CCND2 0 genome.wustl.edu 37 12 4385203 4385203 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 4385203 4385203 C T SNP CCND2 ENST00000261254 human ensembl 74_37 +1 known silent c.228 p.V76 0.995 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND2 HGNC ENSG00000118971 72 0 0 65 7 9.72222 PLEKHA8P1 0 genome.wustl.edu 37 12 45567083 45567083 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 45567083 45567083 C T SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.124 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 115 0 0 85 24 22.0183 PLEKHA8P1 0 genome.wustl.edu 37 12 45567160 45567160 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 45567160 45567160 C T SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 129 0 0 105 22 17.3228 ANO6 0 genome.wustl.edu 37 12 45803165 45803165 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 45803165 45803165 T C SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.1906 p.F636L 0.005 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 128 0 0 114 32 21.9178 SLC38A1 0 genome.wustl.edu 37 12 46622973 46622973 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 46622973 46622973 C T SNP SLC38A1 ENST00000398637 human ensembl 74_37 -1 known missense c.277 p.A93T 0.917 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 57 0 0 34 5 12.8205 PCED1B 0 genome.wustl.edu 37 12 47629502 47629502 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 47629502 47629502 G A SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.656 p.R219H 1.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 17 0 0 12 4 25 VDR 0 genome.wustl.edu 37 12 48238574 48238574 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 48238574 48238574 C T SNP VDR ENST00000229022 human ensembl 74_37 -1 known silent c.1239 p.K413 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_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 52 0 0 45 14 23.7288 KCNA6 0 genome.wustl.edu 37 12 4920249 4920249 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 4920249 4920249 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.1042 p.R348W 0.311 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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 40 0 0 28 8 22.2222 WNT10B 0 genome.wustl.edu 37 12 49361733 49361733 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 49361733 49361733 C T SNP WNT10B ENST00000301061 human ensembl 74_37 -1 known missense c.707 p.R236H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10B HGNC ENSG00000169884 40 0 0 28 12 30 KMT2D 0 genome.wustl.edu 37 12 49424718 49424718 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 49424718 49424718 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.13629 p.D4543 0.984 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 46 0 0 30 5 14.2857 KMT2D 0 genome.wustl.edu 37 12 49434552 49434552 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 49434552 49434552 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.7001 p.R2334Q 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 14 0 0 16 7 30.4348 DHH 0 genome.wustl.edu 37 12 49484980 49484980 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 49484980 49484980 C T SNP DHH ENST00000266991 human ensembl 74_37 -1 known missense c.496 p.A166T 1.000 pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog,prints_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 127 0 0 104 23 18.1102 DNAJC22 0 genome.wustl.edu 37 12 49743155 49743155 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 49743155 49743155 G A SNP DNAJC22 ENST00000395069 human ensembl 74_37 +1 known missense c.500 p.R167H 0.996 NULL pfam_DnaJ_domain,pfam_TM2,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC22 HGNC ENSG00000178401 81 0 0 69 15 17.8571 ASIC1 0 genome.wustl.edu 37 12 50452564 50452564 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 50452564 50452564 C T SNP ASIC1 ENST00000228468 human ensembl 74_37 +1 known silent c.15 p.A5 0.944 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC1 HGNC ENSG00000110881 55 0 0 32 7 17.9487 SLC11A2 0 genome.wustl.edu 37 12 51393164 51393164 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 51393164 51393164 C T SNP SLC11A2 ENST00000394904 human ensembl 74_37 -1 known missense c.658 p.A220T 1.000 pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A2 HGNC ENSG00000110911 104 0 0 96 21 17.9487 SLC11A2 0 genome.wustl.edu 37 12 51393180 51393180 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 51393180 51393180 G A SNP SLC11A2 ENST00000394904 human ensembl 74_37 -1 known silent c.642 p.G214 0.997 pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A2 HGNC ENSG00000110911 89 0 0 83 16 16.1616 KRT75 0 genome.wustl.edu 37 12 52826943 52826943 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 52826943 52826943 G A SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.592 p.P198S 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 96 0 0 75 22 22.6804 KRT74 0 genome.wustl.edu 37 12 52962173 52962173 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 52962173 52962173 G A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.1135 p.R379C 0.617 pfam_IF pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 30 0 0 25 6 19.3548 ESPL1 0 genome.wustl.edu 37 12 53680232 53680232 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 53680232 53680232 C A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.3712 p.P1238T 0.016 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 172 1 0.578035 140 20 12.5 ESPL1 0 genome.wustl.edu 37 12 53681832 53681832 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 53681832 53681832 G A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.4253 p.R1418Q 0.355 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 57 0 0 24 7 22.5806 ESPL1 0 genome.wustl.edu 37 12 53681905 53681905 + Silent SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 53681905 53681905 A T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.4326 p.P1442 0.019 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 22 0 0 19 4 17.3913 ESPL1 0 genome.wustl.edu 37 12 53681913 53681913 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 53681913 53681913 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.4334 p.A1445V 0.263 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 22 0 0 16 4 20 C12orf10 0 genome.wustl.edu 37 12 53700549 53700549 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 53700549 53700549 C A SNP C12orf10 ENST00000549488 human ensembl 74_37 +1 putative missense c.362 p.S121Y 0.040 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 120 0 0 87 17 16.3462 AAAS 0 genome.wustl.edu 37 12 53701642 53701642 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 53701642 53701642 G A SNP AAAS ENST00000209873 human ensembl 74_37 -1 known missense c.1403 p.A468V 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 80 0 0 77 12 13.4831 PMEL 0 genome.wustl.edu 37 12 56348059 56348059 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 56348059 56348059 C T SNP PMEL ENST00000360714 human ensembl 74_37 -1 known missense c.1946 p.R649H 0.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 66 0 0 44 8 15.3846 MIP 0 genome.wustl.edu 37 12 56847512 56847512 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 56847512 56847512 C T SNP MIP ENST00000257979 human ensembl 74_37 -1 known missense c.388 p.A130T 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 25 0 0 16 3 15.7895 SDR9C7 0 genome.wustl.edu 37 12 57323219 57323219 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 57323219 57323219 G A SNP SDR9C7 ENST00000293502 human ensembl 74_37 -1 known missense c.679 p.P227S 0.991 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 72 0 0 51 17 25 NAB2 0 genome.wustl.edu 37 12 57486328 57486328 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 57486328 57486328 G A SNP NAB2 ENST00000300131 human ensembl 74_37 +1 known missense c.1055 p.R352Q 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 72 0 0 44 5 10.2041 LRP1 0 genome.wustl.edu 37 12 57574224 57574224 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 57574224 57574224 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.5348 p.R1783Q 1.000 smart_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 74 0 0 79 8 9.1954 SHMT2 0 genome.wustl.edu 37 12 57627627 57627627 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 57627627 57627627 G A SNP SHMT2 ENST00000328923 human ensembl 74_37 +1 known missense c.1219 p.A407T 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 31 0 0 26 4 13.3333 MARS 0 genome.wustl.edu 37 12 57909800 57909800 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 57909800 57909800 C T SNP MARS ENST00000315473 human ensembl 74_37 +1 known missense c.1787 p.S596L 0.001 NULL pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 45 0 0 20 5 20 MBD6 0 genome.wustl.edu 37 12 57921419 57921419 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 57921419 57921419 C A SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.2212 p.P738T 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 95 0 0 65 15 18.75 SLC26A10 0 genome.wustl.edu 37 12 58015593 58015593 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 58015593 58015593 C A SNP SLC26A10 ENST00000320442 human ensembl 74_37 +1 known missense c.676 p.L226I 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 21 0 0 7 4 36.3636 MON2 0 genome.wustl.edu 37 12 62979234 62979234 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 62979234 62979234 T C SNP MON2 ENST00000393630 human ensembl 74_37 +1 known silent c.4863 p.H1621 0.965 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 31 0 0 37 8 17.7778 XPOT 0 genome.wustl.edu 37 12 64812728 64812728 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 64812728 64812728 A G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.343 p.T115A 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 92 0 0 87 7 7.44681 XPOT 0 genome.wustl.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 64812733 64812733 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known silent c.348 p.E116 0.939 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 95 0 0 90 7 7.21649 ACRBP 0 genome.wustl.edu 37 12 6748005 6748005 + RNA SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 6748005 6748005 G A SNP ACRBP ENST00000540513 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ACRBP HGNC ENSG00000111644 14 0 0 15 11 42.3077 ACRBP 0 genome.wustl.edu 37 12 6752705 6752705 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 6752705 6752705 C T SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known silent c.1077 p.S359 0.994 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 63 0 0 49 10 16.9492 MLF2 0 genome.wustl.edu 37 12 6861114 6861114 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 6861114 6861114 G A SNP MLF2 ENST00000203630 human ensembl 74_37 -1 known missense c.157 p.P53S 1.000 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF2 HGNC ENSG00000089693 73 0 0 51 8 13.5593 NUP107 0 genome.wustl.edu 37 12 69109410 69109410 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 69109410 69109410 C A SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.973 p.P325T 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 168 0 0 120 24 16.6667 TPI1 0 genome.wustl.edu 37 12 6978878 6978878 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 6978878 6978878 G A SNP TPI1 ENST00000229270 human ensembl 74_37 +1 known missense c.595 p.V199I 1.000 pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase - no_errors TPI1 HGNC ENSG00000111669 97 0 0 76 21 21.6495 CCT2 0 genome.wustl.edu 37 12 69980567 69980567 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 69980567 69980567 T C SNP CCT2 ENST00000299300 human ensembl 74_37 +1 known missense c.113 p.L38S 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 178 0 0 169 19 10.1064 LRRC23 0 genome.wustl.edu 37 12 7014793 7014793 + RNA SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 7014793 7014793 G A SNP LRRC23 ENST00000449039 human ensembl 74_37 +1 putative rna NULL NULL 0.990 - - - no_errors LRRC23 HGNC ENSG00000010626 89 0 0 66 14 17.5 TBC1D15 0 genome.wustl.edu 37 12 72307610 72307610 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 72307610 72307610 T C SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known silent c.1356 p.Y452 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 37 0 0 35 12 25.5319 CD163L1 0 genome.wustl.edu 37 12 7586130 7586130 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 7586130 7586130 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known silent c.285 p.F95 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 95 0 0 89 18 16.8224 E2F7 0 genome.wustl.edu 37 12 77444494 77444494 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 77444494 77444494 C T SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.400 p.E134K 1.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 86 0 0 69 16 18.8235 PPP1R12A 0 genome.wustl.edu 37 12 80328667 80328667 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 80328667 80328667 T C SNP PPP1R12A ENST00000261207 human ensembl 74_37 -1 known silent c.45 p.K15 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 10 0 0 6 4 40 OTOGL 0 genome.wustl.edu 37 12 80750652 80750652 + Missense_Mutation SNP C C G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 80750652 80750652 C G SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.5950 p.Q1984E 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 54 0 0 49 12 19.6721 NECAP1 0 genome.wustl.edu 37 12 8245544 8245544 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 8245544 8245544 C T SNP NECAP1 ENST00000339754 human ensembl 74_37 +1 known missense c.569 p.P190L 0.997 NULL pfam_NECAP-1 - no_errors NECAP1 HGNC ENSG00000089818 121 0 0 101 45 30.8219 RIMKLB 0 genome.wustl.edu 37 12 8926004 8926004 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 8926004 8926004 G A SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.785 p.G262D 1.000 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 134 0 0 103 23 18.254 DUSP6 0 genome.wustl.edu 37 12 89744647 89744647 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 89744647 89744647 G A SNP DUSP6 ENST00000279488 human ensembl 74_37 -1 known nonsense c.556 p.R186* 1.000 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP6 HGNC ENSG00000139318 74 0 0 71 19 21.1111 DCN 0 genome.wustl.edu 37 12 91552114 91552114 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 91552114 91552114 C T SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.497 p.R166Q 0.908 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 126 0 0 102 18 15 A2M 0 genome.wustl.edu 37 12 9246138 9246138 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 9246138 9246138 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.2163 p.V721 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 47 0 0 41 9 18 C12orf55 0 genome.wustl.edu 37 12 97079013 97079013 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 97079013 97079013 C T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.6011 p.A2004V 1.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 59 0 0 46 12 20.6897 TMTC4 0 genome.wustl.edu 37 13 101315320 101315320 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 101315320 101315320 G A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known silent c.450 p.G150 0.748 NULL pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 64 0 0 61 12 16.4384 NALCN 0 genome.wustl.edu 37 13 101910909 101910909 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 101910909 101910909 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1151 p.S384F 0.995 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 48 0 0 52 5 8.77193 TEX30 0 genome.wustl.edu 37 13 103418898 103418898 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 103418898 103418898 T C SNP TEX30 ENST00000376027 human ensembl 74_37 -1 putative missense c.331 p.S111G 1.000 NULL NULL - no_errors TEX30 HGNC ENSG00000151287 48 0 0 43 6 12.2449 F7 0 genome.wustl.edu 37 13 113771857 113771857 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 113771857 113771857 C T SNP F7 ENST00000375581 human ensembl 74_37 +1 known missense c.752 p.A251V 0.998 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 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 98 0 0 58 16 21.6216 PCID2 0 genome.wustl.edu 37 13 113854825 113854825 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 113854825 113854825 G A SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known silent c.42 p.Y14 0.207 NULL pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 81 0 0 64 12 15.7895 GAS6 0 genome.wustl.edu 37 13 114535359 114535359 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 114535359 114535359 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known silent c.1185 p.A395 0.074 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 30 0 0 20 6 23.0769 ZMYM5 0 genome.wustl.edu 37 13 20399055 20399055 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 20399055 20399055 C T SNP ZMYM5 ENST00000337963 human ensembl 74_37 -1 known silent c.1572 p.T524 1.000 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 23 0 0 21 5 19.2308 ZMYM5 0 genome.wustl.edu 37 13 20426142 20426142 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 20426142 20426142 A T SNP ZMYM5 ENST00000337963 human ensembl 74_37 -1 known missense c.179 p.V60D 1.000 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 90 0 0 95 13 12.037 ZMYM2 0 genome.wustl.edu 37 13 20577064 20577064 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 20577064 20577064 G A SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.922 p.A308T 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 146 0 0 115 31 21.2329 ZMYM2 0 genome.wustl.edu 37 13 20625630 20625630 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 20625630 20625630 C T SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.2350 p.R784C 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 68 0 0 57 18 24 ZMYM2 0 genome.wustl.edu 37 13 20641139 20641139 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 20641139 20641139 T C SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.3281 p.V1094A 0.002 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 66 0 0 75 22 22.6804 SPATA13 0 genome.wustl.edu 37 13 24858406 24858406 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 24858406 24858406 T C SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known silent c.2298 p.N766 0.949 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 40 0 0 16 5 23.8095 SPATA13 0 genome.wustl.edu 37 13 24861032 24861032 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 24861032 24861032 C T SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.2611 p.R871W 1.000 pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 86 0 0 45 7 13.4615 PAN3 0 genome.wustl.edu 37 13 28841313 28841313 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 28841313 28841313 G A SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.1655 p.R552H 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 128 0 0 116 20 14.7059 SLC7A1 0 genome.wustl.edu 37 13 30091734 30091734 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 30091734 30091734 C T SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known missense c.1486 p.V496M 1.000 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 117 0 0 120 29 19.4631 USPL1 0 genome.wustl.edu 37 13 31205139 31205139 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 31205139 31205139 C T SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known silent c.396 p.D132 0.000 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 78 0 0 60 7 10.4478 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776105 36776105 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 36776105 36776105 C T SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known silent c.405 p.A135 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 95 0 0 97 6 5.82524 SPG20 0 genome.wustl.edu 37 13 36888477 36888477 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 36888477 36888477 C T SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.1370 p.R457Q 1.000 pfam_Senescence/spartin pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 99 0 0 75 18 19.3548 POSTN 0 genome.wustl.edu 37 13 38161966 38161966 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 38161966 38161966 G T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.599 p.P200H 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 51 0 0 50 6 10.7143 PROSER1 0 genome.wustl.edu 37 13 39588012 39588012 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 39588012 39588012 G A SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known silent c.1377 p.A459 0.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 108 0 0 67 17 20.2381 COG6 0 genome.wustl.edu 37 13 40268797 40268797 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 40268797 40268797 T C SNP COG6 ENST00000455146 human ensembl 74_37 +1 known silent c.1101 p.A367 0.999 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 73 0 0 58 9 13.4328 ZC3H13 0 genome.wustl.edu 37 13 46549634 46549634 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 46549634 46549634 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.2252 p.R751Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 22 0 0 10 7 41.1765 NEK5 0 genome.wustl.edu 37 13 52639603 52639603 + Missense_Mutation SNP G G C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 52639603 52639603 G C SNP NEK5 ENST00000355568 human ensembl 74_37 -1 known missense c.2067 p.S689R 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 108 0 0 69 6 8 UGGT2 0 genome.wustl.edu 37 13 96665657 96665657 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 96665657 96665657 G A SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known silent c.564 p.A188 0.998 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 67 0 0 57 7 10.9375 OXGR1 0 genome.wustl.edu 37 13 97639911 97639911 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 97639911 97639911 A G SNP OXGR1 ENST00000298440 human ensembl 74_37 -1 known missense c.103 p.Y35H 0.996 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXGR1 HGNC ENSG00000165621 38 0 0 51 5 8.92857 EVL 0 genome.wustl.edu 37 14 100551127 100551127 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 100551127 100551127 A G SNP EVL ENST00000392920 human ensembl 74_37 +1 known missense c.115 p.N39D 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 86 0 0 59 23 28.0488 DYNC1H1 0 genome.wustl.edu 37 14 102471206 102471206 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 102471206 102471206 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.5157 p.E1719 0.999 pfam_Dynein_heavy_dom-2 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 49 0 0 37 5 11.9048 DYNC1H1 0 genome.wustl.edu 37 14 102494049 102494049 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 102494049 102494049 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.9142 p.E3048K 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 79 0 0 47 10 17.5439 TECPR2 0 genome.wustl.edu 37 14 102843129 102843129 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 102843129 102843129 C T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.71 p.P24L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 44 0 0 44 12 21.4286 EIF5 0 genome.wustl.edu 37 14 103806054 103806054 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 103806054 103806054 C T SNP EIF5 ENST00000216554 human ensembl 74_37 +1 known missense c.985 p.L329F 1.000 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 78 0 0 69 7 9.21053 AHNAK2 0 genome.wustl.edu 37 14 105409290 105409290 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 105409290 105409290 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.12498 p.D4166 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 284 0 0 171 52 23.3184 AHNAK2 0 genome.wustl.edu 37 14 105415997 105415997 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 105415997 105415997 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.5791 p.A1931T 0.346 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 249 1 0.4 159 35 18.0412 TMEM55B 0 genome.wustl.edu 37 14 20928912 20928912 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 20928912 20928912 C T SNP TMEM55B ENST00000398020 human ensembl 74_37 -1 known missense c.256 p.A86T 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55B HGNC ENSG00000165782 85 0 0 88 14 13.7255 EFS 0 genome.wustl.edu 37 14 23829153 23829153 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 23829153 23829153 C T SNP EFS ENST00000216733 human ensembl 74_37 -1 known silent c.534 p.P178 0.000 NULL pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 62 0 0 41 12 22.6415 MYH7 0 genome.wustl.edu 37 14 23886745 23886745 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 23886745 23886745 T C SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.4320 p.A1440 0.046 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 96 0 0 64 10 13.5135 AP1G2 0 genome.wustl.edu 37 14 24032638 24032638 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 24032638 24032638 G A SNP AP1G2 ENST00000308724 human ensembl 74_37 -1 known missense c.1361 p.A454V 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 11 0 0 9 3 25 CPNE6 0 genome.wustl.edu 37 14 24542713 24542713 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 24542713 24542713 G T SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known missense c.339 p.E113D 0.950 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 132 0 0 83 17 17 CPNE6 0 genome.wustl.edu 37 14 24542860 24542860 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 24542860 24542860 C T SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known silent c.486 p.L162 0.613 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 42 0 0 26 8 23.5294 RNF31 0 genome.wustl.edu 37 14 24621133 24621133 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 24621133 24621133 C T SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.2062 p.R688W 1.000 NULL pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 43 0 0 40 11 21.5686 TGM1 0 genome.wustl.edu 37 14 24731001 24731001 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 24731001 24731001 G A SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known silent c.408 p.Y136 0.888 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 91 0 0 55 9 14.0625 NFATC4 0 genome.wustl.edu 37 14 24838782 24838782 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 24838782 24838782 G A SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.367 p.G123S 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 92 0 0 47 15 24.1935 STRN3 0 genome.wustl.edu 37 14 31364745 31364745 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 31364745 31364745 T C SNP STRN3 ENST00000357479 human ensembl 74_37 -1 known missense c.2266 p.T756A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN3 HGNC ENSG00000196792 44 0 0 34 5 12.8205 SSTR1 0 genome.wustl.edu 37 14 38679606 38679606 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 38679606 38679606 C A SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.1012 p.L338I 1.000 NULL 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 106 0 0 78 7 8.23529 GEMIN2 0 genome.wustl.edu 37 14 39601231 39601231 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 39601231 39601231 C T SNP GEMIN2 ENST00000308317 human ensembl 74_37 +1 known missense c.703 p.R235W 1.000 pirsf_GEMIN2_metazoa pirsf_GEMIN2_metazoa - no_errors GEMIN2 HGNC ENSG00000092208 111 0 0 78 13 14.2857 FKBP3 0 genome.wustl.edu 37 14 45603570 45603570 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 45603570 45603570 C A SNP FKBP3 ENST00000216330 human ensembl 74_37 -1 known missense c.90 p.Q30H 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP3 HGNC ENSG00000100442 81 0 0 43 13 23.2143 NIN 0 genome.wustl.edu 37 14 51208344 51208344 + Nonsense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 51208344 51208344 C A SNP NIN ENST00000245441 human ensembl 74_37 -1 known nonsense c.5404 p.E1802* 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 147 0 0 120 38 24.0506 PYGL 0 genome.wustl.edu 37 14 51375597 51375597 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 51375597 51375597 A G SNP PYGL ENST00000216392 human ensembl 74_37 -1 known missense c.2254 p.S752P 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 128 0 0 116 32 21.6216 NID2 0 genome.wustl.edu 37 14 52534592 52534592 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 52534592 52534592 G A SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.518 p.A173V 0.001 smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 152 0 0 90 23 20.354 NID2 0 genome.wustl.edu 37 14 52535601 52535601 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 52535601 52535601 G A SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.112 p.P38S 1.000 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 47 0 0 29 4 12.1212 PTGDR 0 genome.wustl.edu 37 14 52735263 52735263 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 52735263 52735263 C T SNP PTGDR ENST00000306051 human ensembl 74_37 +1 known missense c.731 p.A244V 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 49 0 0 28 9 24.3243 DDHD1 0 genome.wustl.edu 37 14 53619158 53619158 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 53619158 53619158 C T SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.659 p.G220D 0.881 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 18 0 0 6 4 40 ATG14 0 genome.wustl.edu 37 14 55848756 55848756 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 55848756 55848756 C T SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known nonsense c.801 p.W267* 1.000 pfam_UV_resistance/autophagy_Atg14 pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 129 0 0 93 24 20.5128 C14orf37 0 genome.wustl.edu 37 14 58563560 58563560 + Silent SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 58563560 58563560 G T SNP C14orf37 ENST00000267485 human ensembl 74_37 -1 known silent c.1971 p.T657 0.021 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 56 0 0 56 11 16.4179 DACT1 0 genome.wustl.edu 37 14 59108339 59108339 + Nonsense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 59108339 59108339 G T SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known nonsense c.508 p.G170* 0.999 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 121 0 0 109 21 16.1538 HSPA2 0 genome.wustl.edu 37 14 65007547 65007547 + RNA SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 65007547 65007547 G A SNP HSPA2 ENST00000554883 human ensembl 74_37 +1 putative rna NULL NULL 0.008 - - - no_errors HSPA2 HGNC ENSG00000126803 35 0 0 33 9 21.4286 PPP1R36 0 genome.wustl.edu 37 14 65053973 65053973 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 65053973 65053973 A G SNP PPP1R36 ENST00000298705 human ensembl 74_37 +1 known missense c.773 p.E258G 1.000 NULL NULL - no_errors PPP1R36 HGNC ENSG00000165807 87 0 0 61 15 19.7368 FUT8 0 genome.wustl.edu 37 14 66082939 66082939 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 66082939 66082939 G A SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known silent c.330 p.K110 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 71 0 0 40 10 20 GPHN 0 genome.wustl.edu 37 14 67431987 67431987 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 67431987 67431987 C T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.908 p.S303L 1.000 NULL pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 110 0 0 74 12 13.9535 GPHN 0 genome.wustl.edu 37 14 67576927 67576927 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 67576927 67576927 A G SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.1364 p.D455G 1.000 pfam_MoeA_linker/N,superfamily_MoeA_linker/N pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 176 0 0 143 32 18.2857 MAP3K9 0 genome.wustl.edu 37 14 71209080 71209080 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 71209080 71209080 T C SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known missense c.1555 p.S519G 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 64 0 0 78 14 15.2174 LTBP2 0 genome.wustl.edu 37 14 75022341 75022341 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 75022341 75022341 G T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.886 p.R296S 0.743 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 35 0 0 36 12 25 VIPAS39 0 genome.wustl.edu 37 14 77895366 77895366 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 77895366 77895366 G A SNP VIPAS39 ENST00000343765 human ensembl 74_37 -1 known missense c.1339 p.H447Y 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 95 0 0 80 15 15.7895 NRXN3 0 genome.wustl.edu 37 14 79933651 79933651 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 79933651 79933651 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.3317 p.R1106H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 81 0 0 53 4 7.01754 SMEK1 0 genome.wustl.edu 37 14 91942843 91942843 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 91942843 91942843 G A SNP SMEK1 ENST00000554943 human ensembl 74_37 -1 known missense c.1019 p.A340V 1.000 pfam_DUF625,superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 53 0 0 50 11 18.0328 GOLGA5 0 genome.wustl.edu 37 14 93299632 93299632 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 93299632 93299632 G A SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known missense c.1885 p.A629T 0.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 217 0 0 195 37 15.9483 OTUB2 0 genome.wustl.edu 37 14 94510971 94510971 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 94510971 94510971 G A SNP OTUB2 ENST00000203664 human ensembl 74_37 +1 known missense c.343 p.V115M 0.967 pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB2 HGNC ENSG00000089723 53 0 0 42 7 14.2857 VRK1 0 genome.wustl.edu 37 14 97326912 97326912 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 97326912 97326912 T C SNP VRK1 ENST00000216639 human ensembl 74_37 +1 known missense c.908 p.M303T 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK1 HGNC ENSG00000100749 48 0 0 45 8 15.0943 ADAMTS17 0 genome.wustl.edu 37 15 100821558 100821558 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 100821558 100821558 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.665 p.R222Q 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 20 0 0 12 3 20 ASB7 0 genome.wustl.edu 37 15 101170100 101170100 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 101170100 101170100 A G SNP ASB7 ENST00000332783 human ensembl 74_37 +1 known missense c.670 p.R224G 0.995 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 91 0 0 79 20 20.202 LRRK1 0 genome.wustl.edu 37 15 101528988 101528988 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 101528988 101528988 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.583 p.R195C 0.100 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 40 0 0 35 5 12.5 MKRN3 0 genome.wustl.edu 37 15 23811639 23811639 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 23811639 23811639 T C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.710 p.V237A 0.098 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 37 0 0 30 5 14.2857 MAGEL2 0 genome.wustl.edu 37 15 23889460 23889460 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 23889460 23889460 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1621 p.R541W 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 55 0 0 39 10 20.4082 HERC2 0 genome.wustl.edu 37 15 28357109 28357109 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 28357109 28357109 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.14305 p.P4769S 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 76 0 0 64 12 15.7895 HERC2 0 genome.wustl.edu 37 15 28366563 28366563 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 28366563 28366563 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.13201 p.R4401W 0.985 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 51 6 10.5263 HERC2 0 genome.wustl.edu 37 15 28538035 28538035 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 28538035 28538035 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.321 p.P107 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 27 0 0 35 5 12.5 FMN1 0 genome.wustl.edu 37 15 33192305 33192305 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 33192305 33192305 C T SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.2860 p.V954M 1.000 pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 74 0 0 68 16 19.0476 PGBD4 0 genome.wustl.edu 37 15 34396276 34396276 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 34396276 34396276 C T SNP PGBD4 ENST00000397766 human ensembl 74_37 +1 known missense c.1544 p.T515I 0.327 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 57 0 0 63 11 14.8649 SPRED1 0 genome.wustl.edu 37 15 38641674 38641674 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 38641674 38641674 G A SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.634 p.V212I 0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 60 0 0 53 11 17.1875 BAHD1 0 genome.wustl.edu 37 15 40758302 40758302 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 40758302 40758302 C T SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known silent c.2316 p.H772 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 85 0 0 73 12 14.1176 RAD51 0 genome.wustl.edu 37 15 41021004 41021004 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 41021004 41021004 C T SNP RAD51 ENST00000382643 human ensembl 74_37 +1 known missense c.629 p.A210V 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DNA_recomb/repair_Rad51 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51 - no_errors RAD51 HGNC ENSG00000051180 187 0 0 177 14 7.32984 RPAP1 0 genome.wustl.edu 37 15 41820101 41820101 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 41820101 41820101 G A SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.1385 p.A462V 1.000 superfamily_ARM-type_fold pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 46 0 0 27 10 27.027 ZNF106 0 genome.wustl.edu 37 15 42743354 42743354 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 42743354 42743354 C T SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known nonsense c.1047 p.W349* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 124 0 0 96 21 17.9487 TGM5 0 genome.wustl.edu 37 15 43533132 43533132 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 43533132 43533132 C T SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.919 p.D307N 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 88 0 0 80 16 16.6667 TUBGCP4 0 genome.wustl.edu 37 15 43677988 43677988 + Splice_Site SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 43677988 43677988 G A SNP TUBGCP4 ENST00000260383 human ensembl 74_37 +1 known splice_site c.724-1 e8-1 1.000 - - - no_errors TUBGCP4 HGNC ENSG00000137822 53 0 0 50 16 24.2424 TP53BP1 0 genome.wustl.edu 37 15 43707815 43707815 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 43707815 43707815 C T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.5066 p.R1689H 1.000 smart_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 116 0 0 75 16 17.5824 SPG11 0 genome.wustl.edu 37 15 44951445 44951445 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 44951445 44951445 A G SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.499 p.F167L 0.995 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 60 0 0 53 16 23.1884 DUOX2 0 genome.wustl.edu 37 15 45387642 45387642 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 45387642 45387642 C T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.4232 p.C1411Y 1.000 pfam_Fe_red_NAD-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 128 0 0 73 12 14.1176 SLC28A2 0 genome.wustl.edu 37 15 45556197 45556197 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 45556197 45556197 G A SNP SLC28A2 ENST00000347644 human ensembl 74_37 +1 known missense c.565 p.A189T 1.000 pfam_Nuclsd_transpt2,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 73 0 0 64 14 17.9487 HDC 0 genome.wustl.edu 37 15 50534934 50534934 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 50534934 50534934 C T SNP HDC ENST00000267845 human ensembl 74_37 -1 known silent c.1512 p.T504 0.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 70 0 0 40 21 34.4262 TRPM7 0 genome.wustl.edu 37 15 50878623 50878623 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 50878623 50878623 A G SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known silent c.4452 p.C1484 0.961 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 58 0 0 38 9 19.1489 VPS13C 0 genome.wustl.edu 37 15 62147068 62147068 + Splice_Site SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 62147068 62147068 A G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known splice_site c.11160+2 e84+2 0.968 - - - no_errors VPS13C HGNC ENSG00000129003 29 0 0 23 3 11.5385 TLN2 0 genome.wustl.edu 37 15 63063176 63063176 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 63063176 63063176 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.5210 p.A1737V 0.997 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 98 0 0 55 14 20.2899 TLN2 0 genome.wustl.edu 37 15 63089567 63089567 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 63089567 63089567 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.6200 p.A2067V 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 25 0 0 38 6 13.6364 USP3 0 genome.wustl.edu 37 15 63824853 63824853 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 63824853 63824853 G A SNP USP3 ENST00000380324 human ensembl 74_37 +1 known silent c.99 p.R33 0.999 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP3 HGNC ENSG00000140455 84 0 0 61 10 14.0845 HERC1 0 genome.wustl.edu 37 15 63904654 63904654 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 63904654 63904654 C A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.14196 p.E4732D 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 71 0 0 58 11 15.942 HERC1 0 genome.wustl.edu 37 15 64067377 64067377 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 64067377 64067377 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.446 p.R149H 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 225 0 0 190 33 14.7982 SLC24A1 0 genome.wustl.edu 37 15 65945038 65945038 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 65945038 65945038 G A SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known missense c.2942 p.G981D 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 72 0 0 61 16 20.7792 ITGA11 0 genome.wustl.edu 37 15 68661610 68661610 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 68661610 68661610 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known silent c.177 p.G59 0.533 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 75 0 0 43 12 21.8182 ODF3L1 0 genome.wustl.edu 37 15 76019571 76019571 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 76019571 76019571 C A SNP ODF3L1 ENST00000332145 human ensembl 74_37 +1 known missense c.515 p.P172H 0.952 NULL pfam_SHIPPO-rpt - no_errors ODF3L1 HGNC ENSG00000182950 76 0 0 65 17 20.7317 CIB2 0 genome.wustl.edu 37 15 78398176 78398176 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 78398176 78398176 G A SNP CIB2 ENST00000258930 human ensembl 74_37 -1 known silent c.447 p.C149 0.786 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CIB2 HGNC ENSG00000136425 63 0 0 43 16 27.1186 HYKK 0 genome.wustl.edu 37 15 78807371 78807371 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 78807371 78807371 C A SNP HYKK ENST00000388988 human ensembl 74_37 +1 known silent c.399 p.P133 0.002 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors HYKK HGNC ENSG00000188266 48 0 0 39 15 27.7778 ARNT2 0 genome.wustl.edu 37 15 80872883 80872883 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 80872883 80872883 C T SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.1745 p.P582L 0.946 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 34 0 0 37 5 11.9048 FSD2 0 genome.wustl.edu 37 15 83451613 83451613 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 83451613 83451613 A G SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known silent c.900 p.D300 0.648 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 233 0 0 213 53 19.9248 ZNF592 0 genome.wustl.edu 37 15 85327240 85327240 + Missense_Mutation SNP C C G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 85327240 85327240 C G SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.1334 p.A445G 0.083 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 45 0 0 35 9 20.4545 ABHD2 0 genome.wustl.edu 37 15 89738497 89738497 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 89738497 89738497 G T SNP ABHD2 ENST00000352732 human ensembl 74_37 +1 known missense c.1121 p.G374V 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 73 0 0 57 8 12.3077 TICRR 0 genome.wustl.edu 37 15 90167247 90167247 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 90167247 90167247 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.3706 p.P1236S 0.005 NULL NULL - no_errors TICRR HGNC ENSG00000140534 166 0 0 139 13 8.55263 BLM 0 genome.wustl.edu 37 15 91295078 91295078 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 91295078 91295078 A G SNP BLM ENST00000355112 human ensembl 74_37 +1 known silent c.861 p.P287 0.000 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 87 0 0 64 17 20.9877 TEKT5 0 genome.wustl.edu 37 16 10788514 10788514 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 10788514 10788514 G A SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known missense c.217 p.R73W 0.986 NULL pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 56 0 0 55 7 11.2903 CIITA 0 genome.wustl.edu 37 16 11000846 11000846 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 11000846 11000846 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known silent c.1497 p.D499 0.194 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,prints_MHC_II_transact superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 93 0 0 56 10 15.1515 RHBDF1 0 genome.wustl.edu 37 16 113713 113713 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 113713 113713 G A SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.334 p.R112C 1.000 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 31 0 0 11 8 42.1053 CACNA1H 0 genome.wustl.edu 37 16 1250513 1250513 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 1250513 1250513 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.1061 p.P354L 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 41 0 0 31 8 20.5128 CACNA1H 0 genome.wustl.edu 37 16 1262117 1262117 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 1262117 1262117 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.4738 p.R1580C 0.981 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 40 0 0 21 6 22.2222 PDXDC1 0 genome.wustl.edu 37 16 15112747 15112747 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 15112747 15112747 C T SNP PDXDC1 ENST00000396410 human ensembl 74_37 +1 known silent c.1014 p.A338 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors PDXDC1 HGNC ENSG00000179889 113 0 0 107 6 5.30973 TMC5 0 genome.wustl.edu 37 16 19451526 19451526 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 19451526 19451526 T G SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.166 p.S56A 0.006 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 115 0 0 78 24 23.5294 TMC5 0 genome.wustl.edu 37 16 19498632 19498632 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 19498632 19498632 G A SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.2557 p.A853T 1.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 33 0 0 26 9 25.7143 GPR139 0 genome.wustl.edu 37 16 20043576 20043576 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 20043576 20043576 G A SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known silent c.543 p.H181 0.941 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 59 0 0 50 20 28.5714 OTOA 0 genome.wustl.edu 37 16 21739665 21739665 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 21739665 21739665 C T SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.2162 p.A721V 0.989 NULL NULL - no_errors OTOA HGNC ENSG00000155719 65 0 0 44 13 22.807 VWA3A 0 genome.wustl.edu 37 16 22163922 22163922 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 22163922 22163922 C T SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known silent c.3372 p.H1124 0.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 22 0 0 20 4 16.6667 E4F1 0 genome.wustl.edu 37 16 2282576 2282576 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 2282576 2282576 G A SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known silent c.729 p.T243 0.029 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 12 0 0 8 3 27.2727 ABCA3 0 genome.wustl.edu 37 16 2333210 2333210 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 2333210 2333210 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.4012 p.A1338T 0.285 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 18 0 0 12 3 20 SCNN1B 0 genome.wustl.edu 37 16 23382745 23382745 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 23382745 23382745 G A SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known missense c.1141 p.A381T 0.998 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 45 0 0 18 8 30.7692 ARHGAP17 0 genome.wustl.edu 37 16 24946893 24946893 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 24946893 24946893 C T SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known missense c.1792 p.A598T 0.005 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 44 0 0 36 5 12.1951 GTF3C1 0 genome.wustl.edu 37 16 27481632 27481632 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 27481632 27481632 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.4611 p.D1537 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 199 0 0 141 30 17.5439 KIAA0556 0 genome.wustl.edu 37 16 27585252 27585252 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 27585252 27585252 G A SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known nonsense c.38 p.W13* 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 60 0 0 49 9 15.5172 PRSS27 0 genome.wustl.edu 37 16 2764112 2764112 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 2764112 2764112 C T SNP PRSS27 ENST00000302641 human ensembl 74_37 -1 known silent c.462 p.T154 0.004 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,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 PRSS27 HGNC ENSG00000172382 86 0 0 55 19 25.6757 SRRM2 0 genome.wustl.edu 37 16 2812472 2812472 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 2812472 2812472 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.1943 p.R648H 0.998 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 87 0 0 59 16 21.3333 CORO1A 0 genome.wustl.edu 37 16 30199821 30199821 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 30199821 30199821 G A SNP CORO1A ENST00000219150 human ensembl 74_37 +1 known missense c.1205 p.R402Q 1.000 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC ENSG00000102879 21 0 0 13 5 27.7778 ZNF646 0 genome.wustl.edu 37 16 31089288 31089288 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 31089288 31089288 C T SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.1643 p.P548L 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 34 0 0 33 5 13.1579 PRSS36 0 genome.wustl.edu 37 16 31154679 31154679 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 31154679 31154679 C T SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known missense c.1084 p.A362T 1.000 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 55 0 0 30 6 16.6667 ITGAX 0 genome.wustl.edu 37 16 31371370 31371370 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 31371370 31371370 G A SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.691 p.A231T 0.992 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 87 0 0 64 12 15.7895 C16orf90 0 genome.wustl.edu 37 16 3544554 3544554 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 3544554 3544554 G A SNP C16orf90 ENST00000437192 human ensembl 74_37 -1 known nonsense c.370 p.R124* 0.911 NULL NULL - no_errors C16orf90 HGNC ENSG00000215131 28 0 0 14 11 44 SLX4 0 genome.wustl.edu 37 16 3632513 3632513 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 3632513 3632513 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.5335 p.R1779W 0.967 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 90 0 0 67 11 14.1026 CREBBP 0 genome.wustl.edu 37 16 3900561 3900561 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 3900561 3900561 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.535 p.A179T 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 57 0 0 45 10 18.1818 ADCY9 0 genome.wustl.edu 37 16 4016953 4016953 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 4016953 4016953 G A SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.2885 p.P962L 0.015 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 39 0 0 31 5 13.8889 TMEM8A 0 genome.wustl.edu 37 16 426713 426713 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 426713 426713 C T SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known silent c.735 p.P245 0.000 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 12 0 0 6 2 25 VASN 0 genome.wustl.edu 37 16 4432050 4432050 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 4432050 4432050 G A SNP VASN ENST00000304735 human ensembl 74_37 +1 known missense c.1172 p.S391N 0.001 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 10 0 0 5 6 54.5455 TOX3 0 genome.wustl.edu 37 16 52473718 52473718 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 52473718 52473718 C T SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known missense c.1150 p.A384T 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 236 0 0 165 44 21.0526 MMP2 0 genome.wustl.edu 37 16 55518003 55518003 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 55518003 55518003 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.456 p.S152 0.997 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 87 0 0 43 19 30.6452 BBS2 0 genome.wustl.edu 37 16 56532528 56532528 + RNA SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 56532528 56532528 G A SNP BBS2 ENST00000566410 human ensembl 74_37 -1 putative rna NULL NULL 0.122 - - - no_errors BBS2 HGNC ENSG00000125124 53 0 0 36 6 14.2857 MT3 0 genome.wustl.edu 37 16 56623933 56623933 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 56623933 56623933 C T SNP MT3 ENST00000570176 human ensembl 74_37 +1 putative silent c.183 p.S61 0.000 NULL pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom - no_errors MT3 HGNC ENSG00000087250 11 0 0 13 4 23.5294 MMP15 0 genome.wustl.edu 37 16 58077494 58077494 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 58077494 58077494 T C SNP MMP15 ENST00000219271 human ensembl 74_37 +1 known silent c.1533 p.P511 0.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat 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 MMP15 HGNC ENSG00000102996 20 0 0 17 3 15 CDH11 0 genome.wustl.edu 37 16 64984769 64984769 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 64984769 64984769 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1795 p.G599R 0.960 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 60 0 0 35 10 22.2222 CDH16 0 genome.wustl.edu 37 16 66947046 66947046 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 66947046 66947046 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.1042 p.L348F 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 164 1 0.606061 120 27 18.3673 AGRP 0 genome.wustl.edu 37 16 67516943 67516943 + Silent SNP A A C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 67516943 67516943 A C SNP AGRP ENST00000290953 human ensembl 74_37 -1 known silent c.201 p.A67 0.000 pfam_Agouti,smart_Agouti pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom - no_errors AGRP HGNC ENSG00000159723 117 1 0.847458 85 24 22.0183 ACD 0 genome.wustl.edu 37 16 67691889 67691889 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 67691889 67691889 C A SNP ACD ENST00000393919 human ensembl 74_37 -1 known missense c.1464 p.W488C 1.000 NULL NULL - no_errors ACD HGNC ENSG00000102977 46 0 0 32 7 17.9487 TSNAXIP1 0 genome.wustl.edu 37 16 67860079 67860079 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 67860079 67860079 G A SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.1007 p.R336H 1.000 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 29 0 0 8 6 42.8571 DPEP2 0 genome.wustl.edu 37 16 68026860 68026860 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 68026860 68026860 C T SNP DPEP2 ENST00000393847 human ensembl 74_37 -1 known missense c.256 p.V86M 0.806 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 20 0 0 8 4 33.3333 HAS3 0 genome.wustl.edu 37 16 69143549 69143549 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 69143549 69143549 G A SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known missense c.251 p.R84Q 0.037 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 21 0 0 21 3 12.5 WWP2 0 genome.wustl.edu 37 16 69964118 69964118 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 69964118 69964118 C T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.1402 p.R468C 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 41 0 0 32 12 27.2727 ZFHX3 0 genome.wustl.edu 37 16 72828552 72828552 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 72828552 72828552 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.8029 p.E2677K 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 226 0 0 182 34 15.7407 GLG1 0 genome.wustl.edu 37 16 74496466 74496466 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 74496466 74496466 C T SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.2854 p.G952S 0.605 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 78 0 0 60 20 25 MLKL 0 genome.wustl.edu 37 16 74729299 74729299 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 74729299 74729299 C T SNP MLKL ENST00000308807 human ensembl 74_37 -1 known silent c.357 p.E119 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 MLKL HGNC ENSG00000168404 107 0 0 82 16 16.3265 CNTNAP4 0 genome.wustl.edu 37 16 76587778 76587778 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 76587778 76587778 T C SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.3704 p.I1235T 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 45 0 0 35 8 18.6047 ADAMTS18 0 genome.wustl.edu 37 16 77356319 77356319 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 77356319 77356319 A T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2077 p.F693I 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 127 0 0 93 15 13.8889 BCMO1 0 genome.wustl.edu 37 16 81320986 81320986 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 81320986 81320986 G A SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known silent c.1389 p.A463 0.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 65 0 0 38 12 24 CDH13 0 genome.wustl.edu 37 16 83065685 83065685 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 83065685 83065685 C T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known silent c.228 p.N76 0.107 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 23 0 0 27 9 25 ZC3H18 0 genome.wustl.edu 37 16 88694379 88694379 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 88694379 88694379 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.2321 p.S774L 0.002 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 109 0 0 64 19 22.8916 APRT 0 genome.wustl.edu 37 16 88876887 88876887 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 88876887 88876887 G A SNP APRT ENST00000378364 human ensembl 74_37 -1 known missense c.265 p.R89W 0.041 pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans - no_errors APRT HGNC ENSG00000198931 12 0 0 17 5 22.7273 SPG7 0 genome.wustl.edu 37 16 89614458 89614458 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 89614458 89614458 C T SNP SPG7 ENST00000268704 human ensembl 74_37 +1 known missense c.1600 p.R534W 0.103 superfamily_P-loop_NTPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 94 0 0 58 24 29.2683 CENPBD1 0 genome.wustl.edu 37 16 90038269 90038269 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 90038269 90038269 G A SNP CENPBD1 ENST00000314994 human ensembl 74_37 -1 known missense c.62 p.A21V 0.323 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors CENPBD1 HGNC ENSG00000177946 51 0 0 39 9 18.75 GRIN2A 0 genome.wustl.edu 37 16 9857426 9857426 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 9857426 9857426 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.3975 p.Y1325 0.415 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 88 0 0 71 12 14.4578 MYH13 0 genome.wustl.edu 37 17 10231407 10231407 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 10231407 10231407 G T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.2467 p.R823S 1.000 superfamily_P-loop_NTPase 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 87 0 0 65 9 12.1622 MYH3 0 genome.wustl.edu 37 17 10542988 10542988 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 10542988 10542988 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.2814 p.T938 0.858 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 262 1 0.380228 210 47 18.2879 DNAH9 0 genome.wustl.edu 37 17 11778363 11778363 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 11778363 11778363 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.10340 p.R3447H 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 56 0 0 55 17 23.6111 DNAH9 0 genome.wustl.edu 37 17 11806149 11806149 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 11806149 11806149 G T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11520 p.Q3840H 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 DNAH9 HGNC ENSG00000007174 71 0 0 58 12 17.1429 MYOCD 0 genome.wustl.edu 37 17 12661453 12661453 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 12661453 12661453 T C SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.2254 p.S752P 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 77 0 0 68 10 12.8205 SLC43A2 0 genome.wustl.edu 37 17 1520058 1520058 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 1520058 1520058 C T SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known missense c.166 p.V56I 0.440 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 39 0 0 28 8 22.2222 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 73 0 0 99 26 20.8 WDR81 0 genome.wustl.edu 37 17 1640830 1640830 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 1640830 1640830 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.5677 p.V1893I 0.984 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 58 0 0 30 8 21.0526 SERPINF1 0 genome.wustl.edu 37 17 1679914 1679914 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 1679914 1679914 G A SNP SERPINF1 ENST00000254722 human ensembl 74_37 +1 known missense c.875 p.S292N 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF1 HGNC ENSG00000132386 127 0 0 120 19 13.6691 RAI1 0 genome.wustl.edu 37 17 17698482 17698482 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 17698482 17698482 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known silent c.2220 p.S740 0.013 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 55 0 0 57 13 18.5714 SREBF1 0 genome.wustl.edu 37 17 17720322 17720322 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 17720322 17720322 C T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.1825 p.A609T 0.986 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 58 0 0 32 8 20 TOM1L2 0 genome.wustl.edu 37 17 17766046 17766046 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 17766046 17766046 T C SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known missense c.1201 p.T401A 1.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 253 0 0 211 52 19.7719 SLC5A10 0 genome.wustl.edu 37 17 18874437 18874437 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 18874437 18874437 A T SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.752 p.H251L 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 45 0 0 27 8 22.8571 ALDH3A2 0 genome.wustl.edu 37 17 19568354 19568354 + Nonsense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 19568354 19568354 G T SNP ALDH3A2 ENST00000339618 human ensembl 74_37 +1 known nonsense c.1201 p.G401* 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 55 0 0 56 16 22.2222 KRT16P3 0 genome.wustl.edu 37 17 20407328 20407328 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 20407328 20407328 C T SNP KRT16P3 ENST00000580113 human ensembl 74_37 -1 known rna NULL NULL 0.825 - - - no_errors KRT16P3 HGNC ENSG00000214822 111 0 0 55 19 25.6757 MAP2K3 0 genome.wustl.edu 37 17 21201726 21201726 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 21201726 21201726 A G SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known silent c.51 p.G17 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 MAP2K3 HGNC ENSG00000034152 241 0 0 168 21 11.1111 KIAA0100 0 genome.wustl.edu 37 17 26943183 26943183 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 26943183 26943183 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known silent c.6321 p.E2107 1.000 pfam_FMP27_C pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 46 0 0 44 4 8.33333 RAB34 0 genome.wustl.edu 37 17 27042914 27042914 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 27042914 27042914 C T SNP RAB34 ENST00000447716 human ensembl 74_37 -1 known missense c.389 p.C130Y 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB34 HGNC ENSG00000109113 84 0 0 77 7 8.33333 PHF12 0 genome.wustl.edu 37 17 27251130 27251130 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 27251130 27251130 G A SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known missense c.512 p.A171V 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 36 0 0 22 6 21.4286 SSH2 0 genome.wustl.edu 37 17 28003848 28003848 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 28003848 28003848 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known nonsense c.523 p.Q175* 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 79 0 0 54 18 25 RDM1 0 genome.wustl.edu 37 17 34257080 34257080 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 34257080 34257080 C A SNP RDM1 ENST00000293273 human ensembl 74_37 -1 known missense c.276 p.K92N 0.997 pfam_Rad52_Rad22,pfscan_RRM_dom pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom - no_errors RDM1 HGNC ENSG00000187456 155 1 0.641026 128 32 20 MYO19 0 genome.wustl.edu 37 17 34883421 34883421 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 34883421 34883421 G A SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known silent c.261 p.P87 0.106 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 24 0 0 20 3 13.0435 GPR179 0 genome.wustl.edu 37 17 36483525 36483525 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 36483525 36483525 C T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.5927 p.R1976H 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 38 0 0 29 6 17.1429 ITGAE 0 genome.wustl.edu 37 17 3655092 3655092 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 3655092 3655092 G A SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.1745 p.A582V 0.991 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 66 0 0 48 15 23.8095 LRRC37A11P 0 genome.wustl.edu 37 17 37188048 37188048 + RNA SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 37188048 37188048 C A SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LRRC37A11P HGNC ENSG00000214553 75 0 0 44 5 10.2041 CDK12 0 genome.wustl.edu 37 17 37673788 37673788 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 37673788 37673788 G A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2942 p.R981H 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 73 0 0 51 9 15 ERBB2 0 genome.wustl.edu 37 17 37879899 37879899 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 37879899 37879899 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2194 p.G732S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 17 0 0 8 2 20 ZPBP2 0 genome.wustl.edu 37 17 38024801 38024801 + Splice_Site SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 38024801 38024801 G A SNP ZPBP2 ENST00000348931 human ensembl 74_37 +1 known splice_site c.53-1 e2-1 0.995 - - - no_errors ZPBP2 HGNC ENSG00000186075 150 1 0.662252 127 21 14.1892 KRT28 0 genome.wustl.edu 37 17 38955915 38955915 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 38955915 38955915 G A SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known silent c.231 p.S77 0.710 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 100 0 0 79 14 15.0538 KRT38 0 genome.wustl.edu 37 17 39593778 39593778 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 39593778 39593778 C T SNP KRT38 ENST00000246646 human ensembl 74_37 -1 known silent c.1257 p.P419 0.236 NULL pfam_IF,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 19 0 0 8 3 27.2727 KRT19 0 genome.wustl.edu 37 17 39680724 39680724 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 39680724 39680724 G A SNP KRT19 ENST00000361566 human ensembl 74_37 -1 known silent c.729 p.T243 0.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 78 0 0 67 7 9.45946 PSMC3IP 0 genome.wustl.edu 37 17 40729286 40729286 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 40729286 40729286 T C SNP PSMC3IP ENST00000393795 human ensembl 74_37 -1 known missense c.170 p.Q57R 1.000 pfam_TBPIP,pfam_BlaI_family pfam_TBPIP,pfam_BlaI_family - no_errors PSMC3IP HGNC ENSG00000131470 48 0 0 45 5 10 TUBG2 0 genome.wustl.edu 37 17 40818663 40818663 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 40818663 40818663 C T SNP TUBG2 ENST00000251412 human ensembl 74_37 +1 known missense c.1201 p.R401W 1.000 superfamily_Tub_FtsZ_C,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 90 0 0 56 16 22.2222 DHX8 0 genome.wustl.edu 37 17 41570275 41570275 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 41570275 41570275 C T SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.730 p.R244W 0.611 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 130 0 0 112 19 14.5038 MPP3 0 genome.wustl.edu 37 17 41879176 41879176 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 41879176 41879176 C T SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known missense c.1651 p.A551T 0.033 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 81 0 0 66 17 20.4819 HDAC5 0 genome.wustl.edu 37 17 42156018 42156018 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 42156018 42156018 C T SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.3182 p.C1061Y 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 129 0 0 87 25 22.3214 RUNDC3A 0 genome.wustl.edu 37 17 42390862 42390862 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 42390862 42390862 G A SNP RUNDC3A ENST00000426726 human ensembl 74_37 +1 known missense c.449 p.R150Q 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC ENSG00000108309 35 0 0 35 7 16.6667 GRN 0 genome.wustl.edu 37 17 42429110 42429110 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 42429110 42429110 G A SNP GRN ENST00000053867 human ensembl 74_37 +1 known missense c.1126 p.D376N 0.001 smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 50 0 0 33 5 13.1579 FZD2 0 genome.wustl.edu 37 17 42635531 42635531 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 42635531 42635531 G A SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.475 p.G159R 1.000 NULL 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 13 0 0 16 4 20 KANSL1 0 genome.wustl.edu 37 17 44116010 44116010 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 44116010 44116010 G A SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.2435 p.A812V 0.990 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 59 0 0 56 12 17.6471 MYBBP1A 0 genome.wustl.edu 37 17 4448439 4448439 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 4448439 4448439 C T SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.2192 p.S731N 0.500 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 24 0 0 19 4 17.3913 PELP1 0 genome.wustl.edu 37 17 4594694 4594694 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 4594694 4594694 C T SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.293 p.R98H 0.962 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 152 0 0 109 16 12.8 NFE2L1 0 genome.wustl.edu 37 17 46136299 46136299 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 46136299 46136299 G A SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known missense c.1615 p.E539K 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 58 0 0 28 15 34.8837 TM4SF5 0 genome.wustl.edu 37 17 4685809 4685809 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 4685809 4685809 G A SNP TM4SF5 ENST00000270560 human ensembl 74_37 +1 known silent c.270 p.S90 0.001 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF5 HGNC ENSG00000142484 84 0 0 63 15 19.2308 ITGA3 0 genome.wustl.edu 37 17 48153070 48153070 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 48153070 48153070 C T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known missense c.1645 p.R549C 0.002 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 31 0 0 24 3 11.1111 RNF167 0 genome.wustl.edu 37 17 4848022 4848022 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 4848022 4848022 G A SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known missense c.764 p.R255H 0.999 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 85 0 0 60 15 20 RNF43 0 genome.wustl.edu 37 17 56437605 56437605 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 56437605 56437605 C T SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.857 p.R286Q 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 58 0 0 48 6 11.1111 CLTC 0 genome.wustl.edu 37 17 57744280 57744280 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 57744280 57744280 T C SNP CLTC ENST00000269122 human ensembl 74_37 +1 known silent c.2070 p.H690 0.957 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 78 0 0 52 12 18.75 HEATR6 0 genome.wustl.edu 37 17 58134524 58134524 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 58134524 58134524 C T SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.1964 p.R655Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 170 0 0 131 30 18.6335 HEATR6 0 genome.wustl.edu 37 17 58147131 58147131 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 58147131 58147131 C T SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.880 p.D294N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 119 0 0 102 20 16.3934 TBX4 0 genome.wustl.edu 37 17 59557600 59557600 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 59557600 59557600 C T SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known missense c.941 p.A314V 0.478 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 32 0 0 32 4 11.1111 TBC1D3P2 0 genome.wustl.edu 37 17 60344534 60344534 + RNA SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 60344534 60344534 G A SNP TBC1D3P2 ENST00000339120 human ensembl 74_37 -1 known rna NULL NULL 0.965 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 203 0 0 163 38 18.9055 TANC2 0 genome.wustl.edu 37 17 61497887 61497887 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 61497887 61497887 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4544 p.R1515H 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 68 0 0 39 6 13.3333 FTSJ3 0 genome.wustl.edu 37 17 61898993 61898993 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 61898993 61898993 G A SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.1607 p.A536V 0.137 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 205 0 0 129 34 20.8589 SCN4A 0 genome.wustl.edu 37 17 62020407 62020407 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 62020407 62020407 T C SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.4067 p.D1356G 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 121 0 0 91 19 17.2727 CACNG5 0 genome.wustl.edu 37 17 64880822 64880822 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 64880822 64880822 C T SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.614 p.T205I 0.002 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 50 0 0 41 13 24.0741 ARSG 0 genome.wustl.edu 37 17 66303763 66303763 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 66303763 66303763 C T SNP ARSG ENST00000448504 human ensembl 74_37 +1 known silent c.129 p.A43 0.477 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 58 0 0 50 12 19.3548 ABCA8 0 genome.wustl.edu 37 17 66937011 66937011 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 66937011 66937011 G A SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known silent c.189 p.D63 0.631 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 59 0 0 60 6 9.09091 ABCA9 0 genome.wustl.edu 37 17 66982353 66982353 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 66982353 66982353 G A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.4160 p.A1387V 0.477 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 ABCA9 HGNC ENSG00000154258 107 0 0 85 15 15 ABCA9 0 genome.wustl.edu 37 17 67016664 67016664 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 67016664 67016664 A G SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.2465 p.L822P 0.914 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 81 0 0 67 18 21.1765 ABCA9 0 genome.wustl.edu 37 17 67039677 67039677 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 67039677 67039677 G A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known silent c.753 p.Y251 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 88 0 0 58 12 17.1429 ABCA6 0 genome.wustl.edu 37 17 67110969 67110969 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 67110969 67110969 G A SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known silent c.1716 p.T572 0.040 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 ABCA6 HGNC ENSG00000154262 131 1 0.757576 107 13 10.8333 BCL6B 0 genome.wustl.edu 37 17 6927588 6927588 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 6927588 6927588 C T SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known silent c.366 p.H122 0.291 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 76 0 0 59 13 18.0556 CDC42EP4 0 genome.wustl.edu 37 17 71282053 71282053 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 71282053 71282053 G T SNP CDC42EP4 ENST00000335793 human ensembl 74_37 -1 known missense c.587 p.A196D 0.976 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP4 HGNC ENSG00000179604 63 0 0 37 7 15.9091 ACAP1 0 genome.wustl.edu 37 17 7252342 7252342 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 7252342 7252342 G A SNP ACAP1 ENST00000158762 human ensembl 74_37 +1 known silent c.1707 p.L569 0.985 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 54 0 0 38 4 9.52381 NXN 0 genome.wustl.edu 37 17 725610 725610 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 725610 725610 C T SNP NXN ENST00000336868 human ensembl 74_37 -1 known missense c.700 p.V234I 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 59 0 0 48 11 18.6441 MRPS7 0 genome.wustl.edu 37 17 73259534 73259534 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 73259534 73259534 C A SNP MRPS7 ENST00000245539 human ensembl 74_37 +1 known missense c.453 p.N151K 1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom - no_errors MRPS7 HGNC ENSG00000125445 421 0 0 339 72 17.5182 C17orf74 0 genome.wustl.edu 37 17 7329690 7329690 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 7329690 7329690 G A SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.380 p.R127H 0.001 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 36 0 0 19 6 24 ZBTB4 0 genome.wustl.edu 37 17 7369348 7369348 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 7369348 7369348 C T SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.773 p.R258Q 0.927 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 17 0 0 6 4 40 FBF1 0 genome.wustl.edu 37 17 73908365 73908365 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 73908365 73908365 T C SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.3229 p.T1077A 0.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 8 0 0 8 3 27.2727 QRICH2 0 genome.wustl.edu 37 17 74288203 74288203 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 74288203 74288203 G A SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.2107 p.R703C 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 77 0 0 51 11 17.7419 RHBDF2 0 genome.wustl.edu 37 17 74470845 74470845 + Silent SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 74470845 74470845 G T SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known silent c.1356 p.I452 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 59 0 0 49 11 18.3333 CYGB 0 genome.wustl.edu 37 17 74527577 74527577 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 74527577 74527577 C T SNP CYGB ENST00000293230 human ensembl 74_37 -1 known missense c.340 p.A114T 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin - no_errors CYGB HGNC ENSG00000161544 55 0 0 21 7 25 SEC14L1 0 genome.wustl.edu 37 17 75212636 75212636 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 75212636 75212636 G A SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.2150 p.R717Q 1.000 NULL pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 230 0 0 180 42 18.9189 TNRC6C 0 genome.wustl.edu 37 17 76083023 76083023 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 76083023 76083023 G A SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known silent c.3642 p.P1214 0.999 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 50 0 0 29 9 23.6842 ENGASE 0 genome.wustl.edu 37 17 77082376 77082376 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 77082376 77082376 G T SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known missense c.2177 p.R726L 0.000 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 34 0 0 22 3 12 KDM6B 0 genome.wustl.edu 37 17 7750871 7750871 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 7750871 7750871 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.1265 p.A422V 0.999 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 26 0 0 22 5 18.5185 CARD14 0 genome.wustl.edu 37 17 78176086 78176086 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 78176086 78176086 C T SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known nonsense c.2086 p.Q696* 0.984 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 62 0 0 36 8 18.1818 RNF213 0 genome.wustl.edu 37 17 78354648 78354648 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 78354648 78354648 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.13658 p.T4553M 0.997 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 139 0 0 109 27 19.8529 RPTOR 0 genome.wustl.edu 37 17 78599546 78599546 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 78599546 78599546 C A SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.218 p.P73H 1.000 prints_Raptor 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 128 0 0 85 9 9.57447 ALOXE3 0 genome.wustl.edu 37 17 7999976 7999976 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 7999976 7999976 G T SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known missense c.2501 p.P834H 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 91 0 0 78 18 18.75 GPS1 0 genome.wustl.edu 37 17 80011774 80011774 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 80011774 80011774 G A SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known missense c.277 p.G93S 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 39 0 0 23 6 20.6897 DUS1L 0 genome.wustl.edu 37 17 80019841 80019841 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 80019841 80019841 G A SNP DUS1L ENST00000306796 human ensembl 74_37 -1 known missense c.529 p.R177C 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS1L HGNC ENSG00000169718 37 0 0 32 9 21.9512 ZNF750 0 genome.wustl.edu 37 17 80788993 80788993 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 80788993 80788993 G A SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known silent c.1338 p.Y446 0.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 68 0 0 50 13 20.6349 PFAS 0 genome.wustl.edu 37 17 8158378 8158378 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 8158378 8158378 C T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known silent c.312 p.I104 0.834 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 47 0 0 47 6 11.3208 KRBA2 0 genome.wustl.edu 37 17 8272949 8272949 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 8272949 8272949 C T SNP KRBA2 ENST00000331336 human ensembl 74_37 -1 known missense c.982 p.V328I 0.102 superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core - no_errors KRBA2 HGNC ENSG00000184619 60 0 0 64 12 15.7895 MYH10 0 genome.wustl.edu 37 17 8396161 8396161 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 8396161 8396161 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.4361 p.T1454M 0.939 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 71 0 0 47 12 20.339 PIK3R5 0 genome.wustl.edu 37 17 8788065 8788065 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 8788065 8788065 G A SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.2164 p.R722W 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 28 0 0 21 3 12.5 USP43 0 genome.wustl.edu 37 17 9615374 9615374 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 9615374 9615374 T G SNP USP43 ENST00000285199 human ensembl 74_37 +1 known missense c.2260 p.S754A 0.995 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 23 0 0 19 7 26.9231 DHRS7C 0 genome.wustl.edu 37 17 9674812 9674812 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 9674812 9674812 T C SNP DHRS7C ENST00000330255 human ensembl 74_37 -1 known missense c.932 p.E311G 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7C HGNC ENSG00000184544 23 0 0 17 3 15 LDLRAD4 0 genome.wustl.edu 37 18 13621228 13621228 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 13621228 13621228 C T SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known silent c.294 p.N98 0.994 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 57 0 0 66 9 12 POTEC 0 genome.wustl.edu 37 18 14542858 14542858 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 14542858 14542858 G A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.288 p.S96 0.012 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 POTEC HGNC ENSG00000183206 206 0 0 170 26 13.2653 DSG3 0 genome.wustl.edu 37 18 29038474 29038474 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 29038474 29038474 C T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.283 p.P95S 0.984 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 83 0 0 76 4 5 ASXL3 0 genome.wustl.edu 37 18 31323494 31323494 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 31323494 31323494 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3682 p.P1228S 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 71 0 0 68 8 10.5263 ASXL3 0 genome.wustl.edu 37 18 31325001 31325001 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 31325001 31325001 T A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.5189 p.V1730D 0.472 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 58 0 0 38 11 22.449 ASXL3 0 genome.wustl.edu 37 18 31326157 31326157 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 31326157 31326157 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6345 p.F2115 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 96 0 0 83 17 17 BCL2 0 genome.wustl.edu 37 18 60985789 60985789 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 60985789 60985789 G A SNP BCL2 ENST00000333681 human ensembl 74_37 -1 known silent c.111 p.A37 0.000 prints_Apop_reg_Bcl2,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_Bcl2,prints_Blc2_fam,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX - no_errors BCL2 HGNC ENSG00000171791 65 0 0 36 7 16.2791 ZNF407 0 genome.wustl.edu 37 18 72343485 72343485 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 72343485 72343485 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known silent c.510 p.P170 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 121 0 0 98 12 10.9091 ZNF236 0 genome.wustl.edu 37 18 74583706 74583706 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 74583706 74583706 A G SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.586 p.T196A 0.990 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 108 0 0 78 16 17.0213 GALR1 0 genome.wustl.edu 37 18 74980856 74980856 + Nonstop_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 74980856 74980856 T C SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known nonstop c.1048 p.*350R 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 107 0 0 96 17 15.0442 PPAN-P2RY11 0 genome.wustl.edu 37 19 10225012 10225012 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 10225012 10225012 C T SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known silent c.1983 p.A661 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 47 0 0 30 7 18.9189 ICAM1 0 genome.wustl.edu 37 19 10394931 10394931 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 10394931 10394931 G A SNP ICAM1 ENST00000264832 human ensembl 74_37 +1 known missense c.860 p.R287Q 0.000 NULL pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 57 0 0 37 11 22.9167 PDE4A 0 genome.wustl.edu 37 19 10568738 10568738 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 10568738 10568738 G A SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.1061 p.R354Q 0.995 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 101 0 0 50 14 21.875 SMARCA4 0 genome.wustl.edu 37 19 11143999 11143999 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 11143999 11143999 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3580 p.G1194R 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 81 0 0 51 12 19.0476 DOCK6 0 genome.wustl.edu 37 19 11312758 11312758 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 11312758 11312758 T C SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.5495 p.Y1832C 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 54 0 0 38 6 13.6364 ZNF799 0 genome.wustl.edu 37 19 12501739 12501739 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 12501739 12501739 A G SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known silent c.1473 p.L491 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 101 0 0 95 16 14.4144 MAST1 0 genome.wustl.edu 37 19 12984811 12984811 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 12984811 12984811 C T SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known silent c.3840 p.G1280 0.231 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 10 0 0 10 3 23.0769 FARSA 0 genome.wustl.edu 37 19 13041110 13041110 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 13041110 13041110 G A SNP FARSA ENST00000314606 human ensembl 74_37 -1 known missense c.430 p.R144W 0.557 NULL pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu - no_errors FARSA HGNC ENSG00000179115 36 0 0 25 3 10.7143 RFX1 0 genome.wustl.edu 37 19 14077273 14077273 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 14077273 14077273 A G SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known missense c.1921 p.Y641H 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 38 0 0 27 4 12.9032 CCDC105 0 genome.wustl.edu 37 19 15132473 15132473 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 15132473 15132473 C T SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known missense c.1087 p.R363W 0.999 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 58 0 0 52 11 17.4603 EPHX3 0 genome.wustl.edu 37 19 15342161 15342161 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 15342161 15342161 C T SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known missense c.376 p.V126I 0.697 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 37 0 0 32 8 20 BRD4 0 genome.wustl.edu 37 19 15364508 15364508 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 15364508 15364508 G A SNP BRD4 ENST00000360016 human ensembl 74_37 -1 known missense c.2245 p.R749C 0.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 35 0 0 33 7 17.5 WIZ 0 genome.wustl.edu 37 19 15538021 15538021 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 15538021 15538021 G A SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.3424 p.P1142S 0.035 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 31 0 0 26 7 21.2121 C19orf44 0 genome.wustl.edu 37 19 16612314 16612314 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 16612314 16612314 C A SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known silent c.711 p.G237 0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 97 0 0 95 9 8.65385 ENSG00000141979 0 genome.wustl.edu 37 19 16677452 16677452 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 16677452 16677452 C T SNP ENSG00000141979 ENST00000409035 human ensembl 74_37 -1 known missense c.1228 p.G410R 0.988 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors CTD-3222D19.2 Clone_based_vega_gene ENSG00000141979 71 0 0 51 20 28.169 UNC13A 0 genome.wustl.edu 37 19 17759362 17759362 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 17759362 17759362 G A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.1958 p.T653I 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 49 0 0 26 5 16.129 JAK3 0 genome.wustl.edu 37 19 17943458 17943458 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 17943458 17943458 G A SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known silent c.2550 p.A850 0.999 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 65 0 0 51 11 17.7419 KLHL26 0 genome.wustl.edu 37 19 18779089 18779089 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 18779089 18779089 G A SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known silent c.882 p.Q294 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 54 0 0 42 9 17.6471 AP3D1 0 genome.wustl.edu 37 19 2102224 2102224 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 2102224 2102224 G A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.3596 p.T1199M 0.028 pfam_BLV_receptor pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 153 0 0 98 23 19.0083 AP3D1 0 genome.wustl.edu 37 19 2138638 2138638 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 2138638 2138638 C T SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.172 p.A58T 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 100 0 0 87 12 12.1212 ZNF536 0 genome.wustl.edu 37 19 31039431 31039431 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 31039431 31039431 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2905 p.E969K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 206 0 0 141 32 18.4971 TSHZ3 0 genome.wustl.edu 37 19 31769889 31769889 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 31769889 31769889 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.810 p.D270 0.324 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 210 0 0 128 33 20.4969 GPATCH1 0 genome.wustl.edu 37 19 33621034 33621034 + Splice_Site SNP A A C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 33621034 33621034 A C SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known splice_site c.2766-2 e20-2 1.000 - - - no_errors GPATCH1 HGNC ENSG00000076650 120 0 0 88 12 12 GRAMD1A 0 genome.wustl.edu 37 19 35514416 35514416 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 35514416 35514416 C T SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known nonsense c.2047 p.Q683* 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 23 0 0 15 4 21.0526 KRTDAP 0 genome.wustl.edu 37 19 35981334 35981334 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 35981334 35981334 G A SNP KRTDAP ENST00000338897 human ensembl 74_37 -1 known missense c.11 p.P4L 0.784 NULL NULL - no_errors KRTDAP HGNC ENSG00000188508 75 0 0 73 8 9.87654 PRODH2 0 genome.wustl.edu 37 19 36290978 36290978 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 36290978 36290978 G A SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known missense c.1573 p.R525W 0.026 NULL pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 17 0 0 15 5 25 PIP5K1C 0 genome.wustl.edu 37 19 3648676 3648676 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 3648676 3648676 G A SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.1158 p.R386 0.867 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 22 0 0 14 4 22.2222 ZNF527 0 genome.wustl.edu 37 19 37879513 37879513 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 37879513 37879513 C T SNP ZNF527 ENST00000436120 human ensembl 74_37 +1 known nonsense c.562 p.Q188* 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 ZNF527 HGNC ENSG00000189164 58 0 0 79 14 15.0538 SIPA1L3 0 genome.wustl.edu 37 19 38673271 38673271 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 38673271 38673271 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.4321 p.V1441I 0.994 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 94 0 0 60 16 21.0526 RYR1 0 genome.wustl.edu 37 19 38959976 38959976 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 38959976 38959976 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.3588 p.G1196 1.000 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 70 0 0 81 13 13.8298 RYR1 0 genome.wustl.edu 37 19 38976392 38976392 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 38976392 38976392 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.5097 p.D1699 0.982 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 53 0 0 36 8 18.1818 FCGBP 0 genome.wustl.edu 37 19 40368650 40368650 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 40368650 40368650 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.12698 p.G4233D 0.997 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 78 0 0 55 7 11.2903 SPTBN4 0 genome.wustl.edu 37 19 40996007 40996007 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 40996007 40996007 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.347 p.R116Q 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_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 23 0 0 23 7 23.3333 CEACAM7 0 genome.wustl.edu 37 19 42190985 42190985 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 42190985 42190985 G A SNP CEACAM7 ENST00000006724 human ensembl 74_37 -1 known nonsense c.232 p.R78* 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CEACAM7 HGNC ENSG00000007306 120 0 0 89 17 16.0377 ATP1A3 0 genome.wustl.edu 37 19 42474392 42474392 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 42474392 42474392 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.2487 p.P829 0.103 pfam_ATPase_P-typ_cation-transptr_C,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 58 0 0 33 9 21.4286 CIC 0 genome.wustl.edu 37 19 42797150 42797150 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 42797150 42797150 G A SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.3512 p.R1171Q 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 35 0 0 31 6 16.2162 UBXN6 0 genome.wustl.edu 37 19 4446147 4446147 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 4446147 4446147 G A SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.1099 p.R367W 0.075 pfam_UBX,smart_UBX,pfscan_UBX pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 16 0 0 5 2 28.5714 UBXN6 0 genome.wustl.edu 37 19 4453928 4453928 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 4453928 4453928 C A SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.246 p.Q82H 1.000 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 61 0 0 39 7 15.2174 BCAM 0 genome.wustl.edu 37 19 45315631 45315631 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 45315631 45315631 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.416 p.A139V 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 18 0 0 9 3 25 BCAM 0 genome.wustl.edu 37 19 45321843 45321843 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 45321843 45321843 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known silent c.1143 p.V381 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 36 0 0 28 6 17.6471 PNMAL1 0 genome.wustl.edu 37 19 46974273 46974273 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 46974273 46974273 A G SNP PNMAL1 ENST00000313683 human ensembl 74_37 -1 known missense c.20 p.M7T 0.578 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 59 0 0 56 12 17.6471 PRR12 0 genome.wustl.edu 37 19 50118249 50118249 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 50118249 50118249 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.5007 p.R1669 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 37 0 0 32 5 13.5135 PRR12 0 genome.wustl.edu 37 19 50123625 50123625 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 50123625 50123625 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.5514 p.G1838 0.998 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 25 0 0 17 6 26.087 PRR12 0 genome.wustl.edu 37 19 50124783 50124783 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 50124783 50124783 C T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.5625 p.D1875 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 26 0 0 13 4 23.5294 KDM4B 0 genome.wustl.edu 37 19 5047625 5047625 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 5047625 5047625 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.571 p.E191K 1.000 pfam_JmjC_dom,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 93 0 0 67 17 20.2381 VRK3 0 genome.wustl.edu 37 19 50482461 50482461 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 50482461 50482461 T C SNP VRK3 ENST00000316763 human ensembl 74_37 -1 known missense c.1315 p.T439A 0.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK3 HGNC ENSG00000105053 61 0 0 35 6 14.6341 NAPSA 0 genome.wustl.edu 37 19 50864954 50864954 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 50864954 50864954 C T SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known missense c.434 p.R145Q 0.998 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 111 0 0 82 13 13.6842 SPIB 0 genome.wustl.edu 37 19 50926203 50926203 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 50926203 50926203 A G SNP SPIB ENST00000595883 human ensembl 74_37 +1 known missense c.248 p.Y83C 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIB HGNC ENSG00000269404 45 0 0 17 3 15 LIM2 0 genome.wustl.edu 37 19 51883795 51883795 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 51883795 51883795 G T SNP LIM2 ENST00000221973 human ensembl 74_37 -1 known missense c.550 p.L184M 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 178 0 0 118 24 16.9014 PTPRS 0 genome.wustl.edu 37 19 5219994 5219994 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 5219994 5219994 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.3724 p.R1242C 1.000 NULL 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 55 0 0 46 8 14.8148 FPR3 0 genome.wustl.edu 37 19 52328045 52328045 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 52328045 52328045 G A SNP FPR3 ENST00000339223 human ensembl 74_37 +1 known silent c.1044 p.T348 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 30 0 0 33 5 13.1579 ZNF350 0 genome.wustl.edu 37 19 52471832 52471832 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 52471832 52471832 T C SNP ZNF350 ENST00000243644 human ensembl 74_37 -1 known silent c.237 p.S79 0.953 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 ZNF350 HGNC ENSG00000256683 87 0 0 58 12 17.1429 PPP2R1A 0 genome.wustl.edu 37 19 52719049 52719049 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 52719049 52719049 G A SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known silent c.825 p.G275 0.992 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 73 0 0 54 6 10 ZNF331 0 genome.wustl.edu 37 19 54080491 54080491 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 54080491 54080491 G A SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.677 p.R226H 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 ZNF331 HGNC ENSG00000130844 98 0 0 83 24 22.4299 MIR371A 0 genome.wustl.edu 37 19 54290948 54290948 + RNA SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 54290948 54290948 G T SNP MIR371A ENST00000362161 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR371A HGNC ENSG00000199031 32 0 0 32 4 11.1111 VSTM1 0 genome.wustl.edu 37 19 54567029 54567029 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 54567029 54567029 C T SNP VSTM1 ENST00000338372 human ensembl 74_37 -1 known missense c.3 p.M1I 0.169 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM1 HGNC ENSG00000189068 123 0 0 87 15 14.7059 LILRB4 0 genome.wustl.edu 37 19 55177749 55177749 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 55177749 55177749 C T SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.933 p.D311 0.022 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 45 0 0 34 11 24.4444 NLRP2 0 genome.wustl.edu 37 19 55481397 55481397 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 55481397 55481397 C T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.14 p.A5V 0.000 superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 79 0 0 54 9 14.2857 ZNF835 0 genome.wustl.edu 37 19 57176390 57176390 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 57176390 57176390 T C SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.177 p.R59 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 23 0 0 16 4 20 ZIM2 0 genome.wustl.edu 37 19 57286130 57286130 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 57286130 57286130 C T SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.1510 p.G504S 0.142 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 74 0 0 70 13 15.6627 ZNF805 0 genome.wustl.edu 37 19 57765977 57765977 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 57765977 57765977 T C SNP ZNF805 ENST00000414468 human ensembl 74_37 +1 known missense c.1790 p.V597A 0.871 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 ZNF805 HGNC ENSG00000204524 45 0 0 41 7 14.5833 ZNF543 0 genome.wustl.edu 37 19 57839233 57839233 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 57839233 57839233 T C SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known silent c.403 p.L135 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 ZNF543 HGNC ENSG00000178229 73 0 0 53 12 18.4615 ZNF749 0 genome.wustl.edu 37 19 57956447 57956447 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 57956447 57956447 A G SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known missense c.1931 p.E644G 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 ZNF749 HGNC ENSG00000186230 84 0 0 71 7 8.97436 ZNF772 0 genome.wustl.edu 37 19 57985255 57985255 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 57985255 57985255 C A SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known missense c.857 p.R286I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF772 HGNC ENSG00000197128 119 0 0 87 25 22.3214 ZNF552 0 genome.wustl.edu 37 19 58319993 58319993 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 58319993 58319993 G T SNP ZNF552 ENST00000391701 human ensembl 74_37 -1 known missense c.639 p.S213R 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF552 HGNC ENSG00000178935 89 0 0 63 16 20.2532 ZNF606 0 genome.wustl.edu 37 19 58490096 58490096 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 58490096 58490096 G A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.1952 p.P651L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 89 0 0 83 10 10.7527 ZSCAN1 0 genome.wustl.edu 37 19 58564966 58564966 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 58564966 58564966 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.774 p.S258 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 38 0 0 19 5 20.8333 ZNF274 0 genome.wustl.edu 37 19 58724502 58724502 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 58724502 58724502 C T SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known missense c.1952 p.T651I 0.001 NULL pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 86 0 0 75 25 25 ZBTB45 0 genome.wustl.edu 37 19 59028801 59028801 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 59028801 59028801 C T SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known silent c.240 p.V80 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB45 HGNC ENSG00000119574 39 0 0 32 8 20 ZBTB45 0 genome.wustl.edu 37 19 59028965 59028965 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 59028965 59028965 G A SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known nonsense c.76 p.Q26* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold 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 51 0 0 37 8 17.7778 ACSBG2 0 genome.wustl.edu 37 19 6183243 6183243 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 6183243 6183243 C T SNP ACSBG2 ENST00000252669 human ensembl 74_37 +1 known missense c.1282 p.P428S 0.978 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 68 0 0 41 10 19.6078 SLC25A23 0 genome.wustl.edu 37 19 6454018 6454018 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 6454018 6454018 C T SNP SLC25A23 ENST00000264088 human ensembl 74_37 -1 known missense c.1018 p.A340T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A23 HGNC ENSG00000125648 38 0 0 18 4 18.1818 GPR108 0 genome.wustl.edu 37 19 6732509 6732509 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 6732509 6732509 C T SNP GPR108 ENST00000264080 human ensembl 74_37 -1 known missense c.985 p.V329I 0.998 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors GPR108 HGNC ENSG00000125734 47 0 0 29 5 14.7059 VAV1 0 genome.wustl.edu 37 19 6821674 6821674 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 6821674 6821674 C A SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known silent c.363 p.A121 0.996 superfamily_CH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 73 0 0 55 10 15.3846 PTBP1 0 genome.wustl.edu 37 19 810550 810550 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 810550 810550 G A SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.1471 p.V491I 0.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 58 0 0 32 4 11.1111 PRTN3 0 genome.wustl.edu 37 19 847857 847857 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 847857 847857 T C SNP PRTN3 ENST00000234347 human ensembl 74_37 +1 known missense c.659 p.V220A 0.007 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 PRTN3 HGNC ENSG00000196415 19 0 0 7 4 36.3636 MUC16 0 genome.wustl.edu 37 19 9011368 9011368 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 9011368 9011368 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38865 p.K12955N 0.553 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 254 0 0 180 56 23.7288 MUC16 0 genome.wustl.edu 37 19 9087335 9087335 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 9087335 9087335 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.4480 p.T1494A 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 242 0 0 214 29 11.9342 OR7D2 0 genome.wustl.edu 37 19 9296531 9296531 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 9296531 9296531 C T SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known missense c.74 p.P25L 0.622 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 79 0 0 58 14 19.4444 OLFM2 0 genome.wustl.edu 37 19 9965414 9965414 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 9965414 9965414 G A SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known silent c.813 p.H271 0.998 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 18 0 0 11 7 38.8889 NOL10 0 genome.wustl.edu 37 2 10729712 10729712 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 10729712 10729712 G A SNP NOL10 ENST00000381685 human ensembl 74_37 -1 known missense c.1588 p.R530C 0.002 NULL pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 27 0 0 22 5 18.5185 GCC2 0 genome.wustl.edu 37 2 109088540 109088540 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 109088540 109088540 C T SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known nonsense c.2755 p.R919* 0.995 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 119 0 0 80 18 18.3673 BUB1 0 genome.wustl.edu 37 2 111430296 111430296 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 111430296 111430296 G T SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.364 p.L122I 0.153 pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 92 0 0 68 14 17.0732 ZC3H6 0 genome.wustl.edu 37 2 113080379 113080379 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 113080379 113080379 G A SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known missense c.1240 p.D414N 0.991 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 130 0 0 123 26 17.4497 SLC20A1 0 genome.wustl.edu 37 2 113414767 113414767 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 113414767 113414767 G A SNP SLC20A1 ENST00000272542 human ensembl 74_37 +1 known missense c.727 p.A243T 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 93 0 0 81 21 20.5882 DPP10 0 genome.wustl.edu 37 2 116525877 116525877 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 116525877 116525877 A G SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1130 p.E377G 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 47 0 0 28 9 24.3243 GREB1 0 genome.wustl.edu 37 2 11758537 11758537 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 11758537 11758537 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.3536 p.P1179L 0.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 17 0 0 11 3 21.4286 GREB1 0 genome.wustl.edu 37 2 11773069 11773069 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 11773069 11773069 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.4871 p.R1624Q 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 60 0 0 26 13 33.3333 GLI2 0 genome.wustl.edu 37 2 121747438 121747438 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 121747438 121747438 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.3948 p.H1316 0.020 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 25 0 0 20 3 13.0435 CNTNAP5 0 genome.wustl.edu 37 2 125405387 125405387 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 125405387 125405387 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.1926 p.V642 0.010 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 27 0 0 22 4 15.3846 WDR33 0 genome.wustl.edu 37 2 128466300 128466300 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 128466300 128466300 G A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known silent c.3732 p.H1244 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 77 0 0 77 11 12.5 SMPD4 0 genome.wustl.edu 37 2 130912720 130912720 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 130912720 130912720 G A SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known nonsense c.1519 p.R507* 1.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 49 0 0 39 10 20.4082 CCDC115 0 genome.wustl.edu 37 2 131099770 131099770 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 131099770 131099770 C T SNP CCDC115 ENST00000437688 human ensembl 74_37 -1 known silent c.33 p.V11 0.001 NULL NULL - no_errors CCDC115 HGNC ENSG00000136710 16 0 0 11 4 26.6667 ANKRD30BL 0 genome.wustl.edu 37 2 132914967 132914967 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 132914967 132914967 C T SNP ANKRD30BL ENST00000295181 human ensembl 74_37 -1 known missense c.248 p.G83D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ENSG00000163046 31 0 0 15 5 25 LRP1B 0 genome.wustl.edu 37 2 141200145 141200145 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 141200145 141200145 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10342 p.H3448Y 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 85 0 0 103 14 11.9658 LYPD6B 0 genome.wustl.edu 37 2 150069635 150069635 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 150069635 150069635 C T SNP LYPD6B ENST00000280115 human ensembl 74_37 +1 known missense c.458 p.T153M 0.995 NULL NULL - no_errors LYPD6B HGNC ENSG00000150556 139 0 0 125 19 13.1944 NEB 0 genome.wustl.edu 37 2 152501056 152501056 + Silent SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 152501056 152501056 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.7570 p.R2524 1.000 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 79 0 0 73 19 20.6522 KCNJ3 0 genome.wustl.edu 37 2 155555583 155555583 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 155555583 155555583 C T SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.296 p.A99V 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 82 0 0 58 13 18.3099 NBAS 0 genome.wustl.edu 37 2 15614225 15614225 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 15614225 15614225 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.1565 p.R522H 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 107 0 0 81 14 14.7368 NBAS 0 genome.wustl.edu 37 2 15614424 15614424 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 15614424 15614424 G A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known nonsense c.1366 p.R456* 0.998 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 24 0 0 22 5 18.5185 GPD2 0 genome.wustl.edu 37 2 157407127 157407127 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 157407127 157407127 C T SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known silent c.840 p.D280 0.999 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 73 0 0 73 12 14.1176 ITGB6 0 genome.wustl.edu 37 2 160993949 160993949 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 160993949 160993949 G A SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known silent c.1656 p.C552 0.886 pirsf_Integrin_bsu,pfam_EGF_extracell pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 76 0 0 60 12 16.6667 FIGN 0 genome.wustl.edu 37 2 164466900 164466900 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 164466900 164466900 G T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1442 p.P481H 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 67 0 0 72 5 6.49351 COBLL1 0 genome.wustl.edu 37 2 165557205 165557205 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 165557205 165557205 C T SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known silent c.1602 p.V534 0.324 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 151 0 0 114 17 12.9771 SCN2A 0 genome.wustl.edu 37 2 166223735 166223735 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 166223735 166223735 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.3529 p.R1177W 0.989 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 54 0 0 47 7 12.963 XIRP2 0 genome.wustl.edu 37 2 168114392 168114392 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 168114392 168114392 G A SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known missense c.1435 p.G479R 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 56 0 0 49 11 18.3333 UBR3 0 genome.wustl.edu 37 2 170806482 170806482 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 170806482 170806482 G A SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known missense c.3452 p.R1151H 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 106 0 0 88 18 16.9811 MYO3B 0 genome.wustl.edu 37 2 171243767 171243767 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 171243767 171243767 C T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.1553 p.A518V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 97 0 0 85 19 18.2692 TTN 0 genome.wustl.edu 37 2 179398768 179398768 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 179398768 179398768 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.94870 p.A31624T 1.000 pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 71 0 0 53 8 13.1148 TTN 0 genome.wustl.edu 37 2 179424439 179424439 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 179424439 179424439 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.78716 p.R26239H 0.079 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 160 0 0 129 36 21.8182 TTN 0 genome.wustl.edu 37 2 179453540 179453540 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 179453540 179453540 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.55208 p.E18403G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 78 0 0 48 12 20 TTN 0 genome.wustl.edu 37 2 179454027 179454027 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 179454027 179454027 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.54721 p.A18241T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 149 0 0 121 34 21.9355 TTN 0 genome.wustl.edu 37 2 179587174 179587174 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 179587174 179587174 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.18608 p.P6203L 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 115 0 0 89 19 17.5926 TTN 0 genome.wustl.edu 37 2 179594285 179594285 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 179594285 179594285 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14866 p.T4956A 1.000 pfam_Ig_I-set,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 144 0 0 122 10 7.57576 ITGA4 0 genome.wustl.edu 37 2 182339944 182339944 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 182339944 182339944 C T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.485 p.T162I 0.588 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 111 0 0 116 28 19.4444 ITGA4 0 genome.wustl.edu 37 2 182399098 182399098 + Splice_Site SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 182399098 182399098 G A SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known splice_site c.2883+1 e26+1 1.000 - - - no_errors ITGA4 HGNC ENSG00000115232 37 0 0 38 6 13.6364 PDE1A 0 genome.wustl.edu 37 2 183129093 183129093 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 183129093 183129093 G A SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known silent c.150 p.V50 0.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 74 0 0 74 11 12.9412 NT5C1B 0 genome.wustl.edu 37 2 18765854 18765854 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 18765854 18765854 C T SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.829 p.D277N 0.029 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 24 0 0 10 4 28.5714 DNAH7 0 genome.wustl.edu 37 2 196636411 196636411 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 196636411 196636411 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.11406 p.S3802 0.854 pfam_Dynein_heavy_dom 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 158 0 0 136 23 14.4654 FZD7 0 genome.wustl.edu 37 2 202899989 202899989 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 202899989 202899989 C A SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.619 p.P207T 0.996 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 18 0 0 10 4 28.5714 FZD7 0 genome.wustl.edu 37 2 202900525 202900525 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 202900525 202900525 G A SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known silent c.1155 p.A385 0.989 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 52 0 0 31 11 26.1905 WDR12 0 genome.wustl.edu 37 2 203772679 203772679 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 203772679 203772679 A G SNP WDR12 ENST00000261015 human ensembl 74_37 -1 known silent c.45 p.Y15 0.575 pfam_NLE pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR12 HGNC ENSG00000138442 45 0 0 43 10 18.8679 RAPH1 0 genome.wustl.edu 37 2 204354422 204354422 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 204354422 204354422 T A SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.617 p.N206I 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 127 1 0.78125 107 19 15.0794 PARD3B 0 genome.wustl.edu 37 2 205978267 205978267 + Missense_Mutation SNP C C G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 205978267 205978267 C G SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.646 p.H216D 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 53 0 0 44 10 18.5185 PARD3B 0 genome.wustl.edu 37 2 205983711 205983711 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 205983711 205983711 C T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known silent c.747 p.H249 0.083 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 80 0 0 69 17 19.7674 NRP2 0 genome.wustl.edu 37 2 206587398 206587398 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 206587398 206587398 C T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known silent c.630 p.Y210 0.977 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 67 0 0 50 4 7.40741 INO80D 0 genome.wustl.edu 37 2 206870106 206870106 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 206870106 206870106 T C SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.2070 p.I690M 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 122 0 0 96 6 5.88235 CRYGC 0 genome.wustl.edu 37 2 208993108 208993108 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 208993108 208993108 C T SNP CRYGC ENST00000282141 human ensembl 74_37 -1 known missense c.344 p.R115H 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 59 0 0 48 13 21.3115 PTH2R 0 genome.wustl.edu 37 2 209308074 209308074 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 209308074 209308074 C T SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known nonsense c.511 p.R171* 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 50 0 0 55 11 16.6667 MAP2 0 genome.wustl.edu 37 2 210559705 210559705 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 210559705 210559705 G A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.2811 p.A937 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 88 0 0 69 12 14.8148 UNC80 0 genome.wustl.edu 37 2 210699692 210699692 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 210699692 210699692 G A SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.2999 p.C1000Y 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 15 0 0 8 3 27.2727 CPS1 0 genome.wustl.edu 37 2 211457621 211457621 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 211457621 211457621 A G SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1123 p.K375E 1.000 pfam_GATASE,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 82 0 0 62 10 13.8889 CPS1 0 genome.wustl.edu 37 2 211540487 211540487 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 211540487 211540487 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known silent c.4215 p.N1405 0.993 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 67 0 0 40 10 20 IKZF2 0 genome.wustl.edu 37 2 213921663 213921663 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 213921663 213921663 T G SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.300 p.Q100H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 84 0 0 74 12 13.9535 ABCA12 0 genome.wustl.edu 37 2 215876354 215876354 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 215876354 215876354 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.2141 p.R714Q 0.004 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 117 0 0 97 20 17.094 FN1 0 genome.wustl.edu 37 2 216273121 216273121 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 216273121 216273121 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.2328 p.N776 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 71 0 0 45 8 15.0943 TNS1 0 genome.wustl.edu 37 2 218683462 218683462 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 218683462 218683462 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.3281 p.P1094L 0.998 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 47 0 0 23 4 14.8148 CYP27A1 0 genome.wustl.edu 37 2 219676971 219676971 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 219676971 219676971 G A SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known missense c.473 p.R158H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 84 0 0 55 7 11.2903 CCDC108 0 genome.wustl.edu 37 2 219893035 219893035 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 219893035 219893035 C T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.1739 p.R580H 0.967 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 63 0 0 43 22 33.8462 ABCB6 0 genome.wustl.edu 37 2 220074986 220074986 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 220074986 220074986 C T SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.2386 p.V796I 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 72 0 0 53 10 15.873 PTPRN 0 genome.wustl.edu 37 2 220162661 220162661 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 220162661 220162661 G A SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known silent c.1833 p.R611 0.992 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 PTPRN HGNC ENSG00000054356 20 0 0 17 4 19.0476 INHA 0 genome.wustl.edu 37 2 220440169 220440169 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 220440169 220440169 G A SNP INHA ENST00000243786 human ensembl 74_37 +1 known missense c.1022 p.R341H 1.000 pfam_TGF-b_C,smart_TGF-b_C,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 179 0 0 119 24 16.7832 WDFY1 0 genome.wustl.edu 37 2 224758993 224758993 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 224758993 224758993 G A SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known silent c.789 p.D263 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 58 0 0 45 10 18.1818 DOCK10 0 genome.wustl.edu 37 2 225637874 225637874 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 225637874 225637874 C A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.6204 p.K2068N 1.000 pfam_DOCK_C,superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 43 0 0 31 9 22.5 SPHKAP 0 genome.wustl.edu 37 2 228883406 228883406 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 228883406 228883406 T C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.2164 p.K722E 0.953 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 199 0 0 151 27 15.1685 SLC16A14 0 genome.wustl.edu 37 2 230923861 230923861 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 230923861 230923861 C T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.208 p.G70S 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 43 0 0 26 5 16.129 ALPI 0 genome.wustl.edu 37 2 233322294 233322294 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 233322294 233322294 G A SNP ALPI ENST00000295463 human ensembl 74_37 +1 known missense c.668 p.R223H 0.963 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 92 0 0 49 7 12.5 HJURP 0 genome.wustl.edu 37 2 234750556 234750556 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 234750556 234750556 C T SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.870 p.M290I 0.000 pfam_HJURP pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 116 0 0 76 10 11.6279 LRRFIP1 0 genome.wustl.edu 37 2 238666181 238666181 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 238666181 238666181 A G SNP LRRFIP1 ENST00000308482 human ensembl 74_37 +1 putative missense c.1214 p.K405R 1.000 superfamily_Prefoldin pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin - no_errors LRRFIP1 HGNC ENSG00000124831 25 0 0 12 3 20 ILKAP 0 genome.wustl.edu 37 2 239090722 239090722 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 239090722 239090722 C T SNP ILKAP ENST00000254654 human ensembl 74_37 -1 known missense c.820 p.A274T 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors ILKAP HGNC ENSG00000132323 197 0 0 171 38 18.1818 PRR21 0 genome.wustl.edu 37 2 240981288 240981288 + Missense_Mutation SNP G G C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 240981288 240981288 G C SNP PRR21 ENST00000408934 human ensembl 74_37 -1 known missense c.1112 p.A371G 0.205 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 76 0 0 61 20 24.6914 ANKMY1 0 genome.wustl.edu 37 2 241463615 241463615 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 241463615 241463615 C T SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known missense c.1252 p.G418R 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 41 0 0 25 6 19.3548 KIF1A 0 genome.wustl.edu 37 2 241689869 241689869 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 241689869 241689869 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.2954 p.R985H 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 26 0 0 24 3 11.1111 KIF1A 0 genome.wustl.edu 37 2 241712648 241712648 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 241712648 241712648 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.1063 p.R355C 1.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 48 0 0 35 6 14.6341 KIF1A 0 genome.wustl.edu 37 2 241726674 241726674 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 241726674 241726674 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known silent c.423 p.S141 0.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 38 0 0 26 6 18.75 C2orf54 0 genome.wustl.edu 37 2 241831333 241831333 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 241831333 241831333 C A SNP C2orf54 ENST00000307486 human ensembl 74_37 -1 known missense c.24 p.W8C 0.002 NULL NULL - no_errors C2orf54 HGNC ENSG00000172478 8 0 0 10 4 28.5714 MTERFD2 0 genome.wustl.edu 37 2 242039193 242039193 + Silent SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 242039193 242039193 G T SNP MTERFD2 ENST00000241527 human ensembl 74_37 -1 known silent c.138 p.A46 0.015 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD2 HGNC ENSG00000122085 99 0 0 69 9 11.5385 PASK 0 genome.wustl.edu 37 2 242066171 242066171 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 242066171 242066171 G A SNP PASK ENST00000358649 human ensembl 74_37 -1 known missense c.2159 p.T720M 0.397 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 55 0 0 42 7 14.2857 PASK 0 genome.wustl.edu 37 2 242066359 242066359 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 242066359 242066359 C T SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.1971 p.L657 1.000 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 121 0 0 109 17 13.4921 ANO7 0 genome.wustl.edu 37 2 242163537 242163537 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 242163537 242163537 C T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.2771 p.T924M 0.000 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 39 0 0 27 4 12.9032 NCOA1 0 genome.wustl.edu 37 2 24927973 24927973 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 24927973 24927973 C T SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.968 p.A323V 1.000 superfamily_PAS,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 72 0 0 62 13 17.3333 ASXL2 0 genome.wustl.edu 37 2 25966041 25966041 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 25966041 25966041 G A SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known silent c.3165 p.H1055 0.993 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 67 0 0 44 8 15.3846 KIF3C 0 genome.wustl.edu 37 2 26203385 26203385 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 26203385 26203385 G A SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known silent c.1402 p.L468 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 74 0 0 54 10 15.625 GTF3C2 0 genome.wustl.edu 37 2 27566374 27566374 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 27566374 27566374 G A SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known silent c.48 p.P16 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 113 0 0 92 15 14.0187 PPM1G 0 genome.wustl.edu 37 2 27607889 27607889 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 27607889 27607889 C T SNP PPM1G ENST00000344034 human ensembl 74_37 -1 known missense c.476 p.R159H 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1G HGNC ENSG00000115241 140 0 0 88 19 17.757 FAM98A 0 genome.wustl.edu 37 2 33810305 33810305 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 33810305 33810305 G A SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known silent c.1095 p.G365 0.973 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 96 0 0 70 15 17.6471 CRIM1 0 genome.wustl.edu 37 2 36749338 36749338 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 36749338 36749338 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known silent c.2310 p.D770 0.996 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 114 0 0 79 29 26.8519 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48873957 48873957 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 48873957 48873957 C T SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known nonsense c.2866 p.Q956* 0.004 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 64 0 0 57 7 10.9375 FSHR 0 genome.wustl.edu 37 2 49190038 49190038 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 49190038 49190038 A G SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.1922 p.L641P 1.000 prints_Gphrmn_rcpt_fam pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 62 0 0 51 13 20.3125 USP34 0 genome.wustl.edu 37 2 61415812 61415812 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 61415812 61415812 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.10066 p.R3356C 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 72 0 0 55 9 14.0625 USP34 0 genome.wustl.edu 37 2 61508298 61508298 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 61508298 61508298 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.5078 p.R1693H 0.999 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 58 0 0 28 10 26.3158 CCT4 0 genome.wustl.edu 37 2 62099411 62099411 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 62099411 62099411 C T SNP CCT4 ENST00000394440 human ensembl 74_37 -1 known missense c.1297 p.A433T 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_delta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta - no_errors CCT4 HGNC ENSG00000115484 59 0 0 46 5 9.80392 SPRED2 0 genome.wustl.edu 37 2 65571870 65571870 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 65571870 65571870 G A SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known nonsense c.187 p.R63* 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 39 0 0 28 4 12.5 ARHGAP25 0 genome.wustl.edu 37 2 69015041 69015041 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 69015041 69015041 A G SNP ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known missense c.419 p.E140G 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 ARHGAP25 HGNC ENSG00000163219 83 0 0 54 11 16.9231 DYSF 0 genome.wustl.edu 37 2 71755438 71755438 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 71755438 71755438 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.1284 p.A428 0.458 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom 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 31 0 0 33 6 15.3846 ALMS1 0 genome.wustl.edu 37 2 73717248 73717248 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 73717248 73717248 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.8159 p.R2720Q 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 142 1 0.699301 107 27 20.1493 DNAH6 0 genome.wustl.edu 37 2 84745152 84745152 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 84745152 84745152 C T SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known nonsense c.202 p.Q68* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 14 0 0 19 3 13.6364 TRABD2A 0 genome.wustl.edu 37 2 85097639 85097639 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 85097639 85097639 G T SNP TRABD2A ENST00000409520 human ensembl 74_37 -1 known missense c.379 p.L127M 1.000 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 54 0 0 42 14 25 C2orf68 0 genome.wustl.edu 37 2 85836566 85836566 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 85836566 85836566 C T SNP C2orf68 ENST00000306336 human ensembl 74_37 -1 known missense c.370 p.V124I 1.000 pfam_UPF0561 pfam_UPF0561 - no_errors C2orf68 HGNC ENSG00000168887 264 0 0 239 28 10.4869 KDM3A 0 genome.wustl.edu 37 2 86705121 86705121 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 86705121 86705121 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known silent c.2061 p.C687 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 147 0 0 120 24 16.6667 TEKT4 0 genome.wustl.edu 37 2 95542378 95542378 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 95542378 95542378 G A SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.1172 p.R391H 0.958 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 32 0 0 21 5 19.2308 CPSF3 0 genome.wustl.edu 37 2 9611523 9611523 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 9611523 9611523 C T SNP CPSF3 ENST00000238112 human ensembl 74_37 +1 known silent c.1908 p.S636 0.305 pfam_CPSF73-100_C pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC ENSG00000119203 95 0 0 87 13 13 CNNM4 0 genome.wustl.edu 37 2 97475139 97475139 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 97475139 97475139 C T SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.2213 p.T738I 0.015 NULL pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 39 0 0 23 10 30.303 VWA3B 0 genome.wustl.edu 37 2 98928714 98928714 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 98928714 98928714 G A SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.3787 p.A1263T 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 45 0 0 36 11 23.4043 CNGA3 0 genome.wustl.edu 37 2 98994199 98994199 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 98994199 98994199 G A SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.151 p.A51T 0.004 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 25 0 0 14 4 22.2222 ZNF133 0 genome.wustl.edu 37 20 18295755 18295755 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 18295755 18295755 C T SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.269 p.P90L 0.102 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 ZNF133 HGNC ENSG00000125846 99 0 0 95 13 12.037 CRNKL1 0 genome.wustl.edu 37 20 20016922 20016922 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 20016922 20016922 C T SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.2464 p.A822T 1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 85 0 0 87 17 16.3462 PAX1 0 genome.wustl.edu 37 20 21687619 21687619 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 21687619 21687619 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.830 p.A277V 0.922 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 35 0 0 22 5 18.5185 TGM3 0 genome.wustl.edu 37 20 2308989 2308989 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 2308989 2308989 G A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known silent c.1311 p.T437 0.010 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 52 0 0 42 8 16 GGTLC1 0 genome.wustl.edu 37 20 23967095 23967095 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 23967095 23967095 C T SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known missense c.154 p.A52T 1.000 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 41 0 0 19 6 24 ACSS1 0 genome.wustl.edu 37 20 24988241 24988241 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 24988241 24988241 C T SNP ACSS1 ENST00000484396 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACSS1 HGNC ENSG00000154930 17 0 0 11 6 35.2941 PYGB 0 genome.wustl.edu 37 20 25239910 25239910 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 25239910 25239910 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.281 p.R94H 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 73 0 0 48 14 22.5806 SNORD86 0 genome.wustl.edu 37 20 2636748 2636748 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 2636748 2636748 C T SNP SNORD86 ENST00000391196 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SNORD86 HGNC ENSG00000212498 43 0 0 37 4 9.7561 PCED1A 0 genome.wustl.edu 37 20 2820491 2820491 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 2820491 2820491 G A SNP PCED1A ENST00000360652 human ensembl 74_37 -1 known missense c.68 p.A23V 0.999 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 78 0 0 78 7 8.23529 HM13 0 genome.wustl.edu 37 20 30136750 30136750 + RNA SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 30136750 30136750 A G SNP HM13 ENST00000460389 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors HM13 HGNC ENSG00000101294 90 0 0 76 17 18.2796 SUN5 0 genome.wustl.edu 37 20 31590444 31590444 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 31590444 31590444 G A SNP SUN5 ENST00000356173 human ensembl 74_37 -1 known missense c.160 p.R54C 0.001 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 36 0 0 33 16 32.6531 NCOA6 0 genome.wustl.edu 37 20 33356268 33356268 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 33356268 33356268 T C SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.513 p.P171 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 102 0 0 108 17 13.6 RBM39 0 genome.wustl.edu 37 20 34295045 34295045 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 34295045 34295045 T C SNP RBM39 ENST00000253363 human ensembl 74_37 -1 known missense c.1304 p.Q435R 1.000 smart_RRM_dom_euk,smart_RRM_dom,tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC ENSG00000131051 62 0 0 58 8 12.1212 TGM2 0 genome.wustl.edu 37 20 36770552 36770552 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 36770552 36770552 C A SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known silent c.909 p.S303 0.046 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 100 0 0 104 14 11.8644 SLC32A1 0 genome.wustl.edu 37 20 37357184 37357184 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 37357184 37357184 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1480 p.V494I 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 20 0 0 19 10 34.4828 CHD6 0 genome.wustl.edu 37 20 40081539 40081539 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 40081539 40081539 T G SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.3164 p.K1055T 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 57 0 0 71 4 5.33333 SMOX 0 genome.wustl.edu 37 20 4167954 4167954 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 4167954 4167954 G A SNP SMOX ENST00000305958 human ensembl 74_37 +1 known missense c.1568 p.R523H 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 34 0 0 38 7 15.5556 SRSF6 0 genome.wustl.edu 37 20 42089154 42089154 + Splice_Site SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 42089154 42089154 G T SNP SRSF6 ENST00000244020 human ensembl 74_37 +1 known splice_site c.591-1 e5-1 1.000 - - - no_errors SRSF6 HGNC ENSG00000124193 85 0 0 79 12 13.1868 MATN4 0 genome.wustl.edu 37 20 43933295 43933295 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 43933295 43933295 G A SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known silent c.216 p.R72 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 42 0 0 24 11 31.4286 RBPJL 0 genome.wustl.edu 37 20 43941018 43941018 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 43941018 43941018 C T SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.602 p.S201L 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 24 0 0 20 6 23.0769 DBNDD2 0 genome.wustl.edu 37 20 44037177 44037177 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 44037177 44037177 G A SNP DBNDD2 ENST00000372720 human ensembl 74_37 +1 known missense c.364 p.E122K 1.000 pfam_Dysbindin pfam_Dysbindin - no_errors DBNDD2 HGNC ENSG00000244274 82 0 0 51 25 32.8947 EPPIN-WFDC6 0 genome.wustl.edu 37 20 44166631 44166631 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 44166631 44166631 C T SNP EPPIN-WFDC6 ENST00000504988 human ensembl 74_37 -1 known missense c.494 p.R165H 0.814 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core pfam_Prot_inh_Kunz-m,pfam_WAP-type_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors EPPIN-WFDC6 HGNC ENSG00000249139 90 0 0 76 40 34.4828 CTSA 0 genome.wustl.edu 37 20 44521441 44521441 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 44521441 44521441 G A SNP CTSA ENST00000372484 human ensembl 74_37 +1 known silent c.576 p.L192 0.983 pfam_Peptidase_S10,prints_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 51 0 0 46 7 13.2075 DDX27 0 genome.wustl.edu 37 20 47858679 47858679 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 47858679 47858679 G A SNP DDX27 ENST00000371764 human ensembl 74_37 +1 known silent c.2145 p.A715 0.998 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 51 0 0 41 11 21.1538 PROKR2 0 genome.wustl.edu 37 20 5282888 5282888 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 5282888 5282888 A G SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.953 p.V318A 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_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 128 0 0 109 14 11.3821 CTCFL 0 genome.wustl.edu 37 20 56098737 56098737 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 56098737 56098737 T A SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.525 p.E175D 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 92 0 0 95 7 6.86275 GNAS 0 genome.wustl.edu 37 20 57415375 57415375 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 57415375 57415375 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.214 p.G72S 0.052 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 53 0 0 39 7 15.2174 NELFCD 0 genome.wustl.edu 37 20 57564992 57564992 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 57564992 57564992 G A SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.791 p.G264D 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 46 0 0 41 8 16.3265 C20orf197 0 genome.wustl.edu 37 20 58645855 58645855 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 58645855 58645855 G A SNP C20orf197 ENST00000313426 human ensembl 74_37 +1 known missense c.273 p.M91I 0.000 NULL NULL - no_errors C20orf197 HGNC ENSG00000176659 36 0 0 39 4 9.30233 PSMA7 0 genome.wustl.edu 37 20 60714901 60714901 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 60714901 60714901 C T SNP PSMA7 ENST00000370873 human ensembl 74_37 -1 known missense c.284 p.R95Q 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA7 HGNC ENSG00000101182 39 0 0 27 7 20.5882 OSBPL2 0 genome.wustl.edu 37 20 60854271 60854271 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 60854271 60854271 G A SNP OSBPL2 ENST00000313733 human ensembl 74_37 +1 known missense c.550 p.A184T 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 75 0 0 60 25 29.4118 DIDO1 0 genome.wustl.edu 37 20 61525803 61525803 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 61525803 61525803 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.2534 p.R845H 0.989 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 78 0 0 59 19 24.359 YTHDF1 0 genome.wustl.edu 37 20 61835152 61835152 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 61835152 61835152 C T SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known missense c.140 p.S47N 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 32 0 0 22 8 26.6667 HELZ2 0 genome.wustl.edu 37 20 62196162 62196162 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 62196162 62196162 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.4013 p.R1338H 0.357 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 27 0 0 25 6 19.3548 TNFRSF6B 0 genome.wustl.edu 37 20 62329757 62329757 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 62329757 62329757 G A SNP TNFRSF6B ENST00000369996 human ensembl 74_37 +1 known silent c.744 p.A248 0.003 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF6B HGNC ENSG00000243509 16 0 0 5 4 44.4444 TCEA2 0 genome.wustl.edu 37 20 62697836 62697836 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 62697836 62697836 C T SNP TCEA2 ENST00000343484 human ensembl 74_37 +1 known missense c.80 p.A27V 0.999 superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC ENSG00000171703 76 0 0 83 8 8.79121 NPBWR2 0 genome.wustl.edu 37 20 62737901 62737901 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 62737901 62737901 G A SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.284 p.T95M 0.981 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 20 0 0 29 4 12.1212 PLCB4 0 genome.wustl.edu 37 20 9404516 9404516 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 9404516 9404516 G A SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.2405 p.R802Q 1.000 pirsf_PLC-beta,superfamily_C2_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 43 0 0 50 9 15.2542 NRIP1 0 genome.wustl.edu 37 21 16340294 16340294 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 16340294 16340294 G T SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.220 p.Q74K 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 44 0 0 33 6 15.3846 USP25 0 genome.wustl.edu 37 21 17250724 17250724 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 17250724 17250724 C T SNP USP25 ENST00000400183 human ensembl 74_37 +1 known missense c.3308 p.T1103M 0.999 NULL pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 77 0 0 62 9 12.6761 ADAMTS1 0 genome.wustl.edu 37 21 28212641 28212641 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 28212641 28212641 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.1619 p.C540Y 1.000 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 84 0 0 78 7 8.23529 KRTAP27-1 0 genome.wustl.edu 37 21 31709741 31709741 + Silent SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 31709741 31709741 G T SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known silent c.246 p.P82 0.015 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 159 0 0 113 24 17.5182 SON 0 genome.wustl.edu 37 21 34923905 34923905 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 34923905 34923905 A T SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.2368 p.T790S 0.916 superfamily_WD40_repeat_dom pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 225 0 0 217 13 5.65217 RCAN1 0 genome.wustl.edu 37 21 35893850 35893850 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 35893850 35893850 G A SNP RCAN1 ENST00000313806 human ensembl 74_37 -1 known missense c.533 p.A178V 0.995 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN1 HGNC ENSG00000159200 29 0 0 22 4 15.3846 KCNJ15 0 genome.wustl.edu 37 21 39672159 39672159 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 39672159 39672159 G A SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known missense c.976 p.D326N 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 73 0 0 35 10 22.2222 TRAPPC10 0 genome.wustl.edu 37 21 45511891 45511891 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 45511891 45511891 C T SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known silent c.2958 p.T986 0.057 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 180 0 0 138 23 14.2857 ADARB1 0 genome.wustl.edu 37 21 46640907 46640907 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 46640907 46640907 G A SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.2024 p.R675H 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 31 0 0 24 4 14.2857 PCNT 0 genome.wustl.edu 37 21 47808672 47808672 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 47808672 47808672 C T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.3480 p.D1160 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 46 0 0 29 6 17.1429 C22orf29 0 genome.wustl.edu 37 22 19839076 19839076 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 19839076 19839076 C T SNP C22orf29 ENST00000328554 human ensembl 74_37 -1 known missense c.709 p.A237T 0.000 NULL NULL - no_errors C22orf29 HGNC ENSG00000215012 69 0 0 63 6 8.69565 C22orf29 0 genome.wustl.edu 37 22 19839620 19839620 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 19839620 19839620 G A SNP C22orf29 ENST00000328554 human ensembl 74_37 -1 known silent c.165 p.T55 0.000 NULL NULL - no_errors C22orf29 HGNC ENSG00000215012 76 0 0 44 10 18.5185 ZDHHC8 0 genome.wustl.edu 37 22 20128528 20128528 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 20128528 20128528 G A SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.887 p.R296H 0.989 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 50 0 0 32 7 17.9487 RTN4R 0 genome.wustl.edu 37 22 20229616 20229616 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 20229616 20229616 A G SNP RTN4R ENST00000043402 human ensembl 74_37 -1 known missense c.1040 p.L347P 0.413 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4R HGNC ENSG00000040608 31 0 0 23 6 20.6897 ZNF74 0 genome.wustl.edu 37 22 20760748 20760748 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 20760748 20760748 C T SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known silent c.1425 p.N475 0.028 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 ZNF74 HGNC ENSG00000185252 67 0 0 48 8 14.2857 KLHL22 0 genome.wustl.edu 37 22 20796481 20796481 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 20796481 20796481 C T SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.1784 p.R595H 0.631 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 20 0 0 13 4 23.5294 MED15 0 genome.wustl.edu 37 22 20929406 20929406 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 20929406 20929406 A G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.1159 p.T387A 0.996 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 254 0 0 158 24 13.1868 ZNF280A 0 genome.wustl.edu 37 22 22869868 22869868 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 22869868 22869868 A T SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known missense c.87 p.D29E 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 158 0 0 103 25 19.5312 CABIN1 0 genome.wustl.edu 37 22 24573539 24573539 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 24573539 24573539 C A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.6273 p.P2091 0.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 33 0 0 23 5 17.8571 GUCD1 0 genome.wustl.edu 37 22 24939903 24939903 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 24939903 24939903 G A SNP GUCD1 ENST00000407471 human ensembl 74_37 -1 known missense c.535 p.R179C 1.000 pfam_Guanylyl_cyclase pfam_Guanylyl_cyclase - no_errors GUCD1 HGNC ENSG00000138867 21 0 0 20 5 20 SGSM1 0 genome.wustl.edu 37 22 25246318 25246318 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 25246318 25246318 C T SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.374 p.A125V 1.000 pfam_Run,pfscan_Run pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 52 0 0 41 11 21.1538 SGSM1 0 genome.wustl.edu 37 22 25264717 25264717 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 25264717 25264717 C T SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known nonsense c.1186 p.R396* 0.999 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 134 0 0 100 25 20 ADRBK2 0 genome.wustl.edu 37 22 26091137 26091137 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 26091137 26091137 C T SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known silent c.1116 p.A372 0.014 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,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 74 0 0 40 7 14.8936 OSBP2 0 genome.wustl.edu 37 22 31266670 31266670 + Splice_Site SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 31266670 31266670 G A SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known splice_site c.1107+1 e3+1 1.000 - - - no_errors OSBP2 HGNC ENSG00000184792 37 0 0 28 3 9.67742 EIF4ENIF1 0 genome.wustl.edu 37 22 31850237 31850237 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 31850237 31850237 C T SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known missense c.1405 p.V469I 0.754 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 77 0 0 62 10 13.8889 MYH9 0 genome.wustl.edu 37 22 36696961 36696961 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 36696961 36696961 T A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.2774 p.E925V 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 70 0 0 42 6 12.5 GGA1 0 genome.wustl.edu 37 22 38026101 38026101 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 38026101 38026101 G A SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known missense c.1255 p.G419S 1.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 47 0 0 30 5 14.2857 SH3BP1 0 genome.wustl.edu 37 22 38039705 38039705 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 38039705 38039705 G A SNP SH3BP1 ENST00000357436 human ensembl 74_37 +1 known silent c.528 p.P176 0.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 65 0 0 43 11 20.3704 MIEF1 0 genome.wustl.edu 37 22 39910152 39910152 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 39910152 39910152 G A SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.1216 p.D406N 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 96 0 0 79 16 16.8421 MKL1 0 genome.wustl.edu 37 22 40807697 40807697 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 40807697 40807697 A G SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known silent c.2493 p.H831 0.923 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 30 0 0 38 8 17.3913 EP300 0 genome.wustl.edu 37 22 41513716 41513716 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 41513716 41513716 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.620 p.Y207C 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 53 0 0 37 4 9.7561 EP300 0 genome.wustl.edu 37 22 41523693 41523693 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 41523693 41523693 G A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.1109 p.R370H 1.000 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 113 0 0 72 20 21.7391 PARVB 0 genome.wustl.edu 37 22 44536011 44536011 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 44536011 44536011 A G SNP PARVB ENST00000406477 human ensembl 74_37 +1 known missense c.799 p.M267V 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 116 0 0 88 21 19.2661 KIAA1644 0 genome.wustl.edu 37 22 44681393 44681393 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 44681393 44681393 G A SNP KIAA1644 ENST00000381176 human ensembl 74_37 -1 putative silent c.514 p.L172 0.302 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 70 0 0 30 5 14.2857 BRD1 0 genome.wustl.edu 37 22 50217191 50217191 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 50217191 50217191 G A SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.775 p.R259C 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 32 0 0 21 10 32.2581 TTLL8 0 genome.wustl.edu 37 22 50487735 50487735 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 50487735 50487735 T G SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known missense c.207 p.K69N 0.001 NULL pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 142 0 0 96 22 18.6441 PCNP 0 genome.wustl.edu 37 3 101311704 101311704 + RNA SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 101311704 101311704 T C SNP PCNP ENST00000486406 human ensembl 74_37 +1 known rna NULL NULL 0.178 - - - no_errors PCNP HGNC ENSG00000081154 14 0 0 14 2 12.5 CEP97 0 genome.wustl.edu 37 3 101451389 101451389 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 101451389 101451389 T C SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known missense c.619 p.C207R 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 60 0 0 38 5 11.6279 CD96 0 genome.wustl.edu 37 3 111319601 111319601 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 111319601 111319601 A G SNP CD96 ENST00000283285 human ensembl 74_37 +1 known silent c.975 p.K325 0.012 pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 82 0 0 70 16 18.6047 BOC 0 genome.wustl.edu 37 3 112999994 112999994 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 112999994 112999994 A G SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.2428 p.T810A 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 46 0 0 41 7 14.5833 GRAMD1C 0 genome.wustl.edu 37 3 113627946 113627946 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 113627946 113627946 A G SNP GRAMD1C ENST00000358160 human ensembl 74_37 +1 known missense c.931 p.T311A 0.998 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC ENSG00000178075 49 0 0 50 15 23.0769 ZBTB20 0 genome.wustl.edu 37 3 114069597 114069597 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 114069597 114069597 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1328 p.S443N 0.994 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 53 0 0 56 5 8.19672 GAP43 0 genome.wustl.edu 37 3 115395025 115395025 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 115395025 115395025 G A SNP GAP43 ENST00000305124 human ensembl 74_37 +1 known missense c.196 p.A66T 0.047 NULL pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC ENSG00000172020 105 0 0 110 8 6.77966 IGSF11 0 genome.wustl.edu 37 3 118621438 118621438 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 118621438 118621438 C T SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known missense c.1225 p.A409T 0.986 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 99 0 0 81 14 14.7368 B4GALT4 0 genome.wustl.edu 37 3 118931514 118931514 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 118931514 118931514 T C SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known missense c.917 p.H306R 0.773 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT4 HGNC ENSG00000121578 48 0 0 45 13 22.4138 CASR 0 genome.wustl.edu 37 3 122003470 122003470 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 122003470 122003470 G A SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.2699 p.R900H 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 25 0 0 19 6 24 SEMA5B 0 genome.wustl.edu 37 3 122629836 122629836 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 122629836 122629836 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.3310 p.L1104F 1.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 37 0 0 23 7 23.3333 KLF15 0 genome.wustl.edu 37 3 126070789 126070789 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 126070789 126070789 G T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.977 p.P326H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 22 0 0 16 6 27.2727 SEC61A1 0 genome.wustl.edu 37 3 127786377 127786377 + Silent SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 127786377 127786377 A T SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known silent c.1089 p.V363 0.700 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 89 0 0 84 21 20 MBD4 0 genome.wustl.edu 37 3 129152936 129152936 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 129152936 129152936 G A SNP MBD4 ENST00000249910 human ensembl 74_37 -1 known silent c.1245 p.S415 1.000 pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 62 0 0 64 6 8.57143 COL6A6 0 genome.wustl.edu 37 3 130380888 130380888 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 130380888 130380888 A G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.6238 p.R2080G 0.982 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 66 0 0 52 9 14.7541 PIK3R4 0 genome.wustl.edu 37 3 130422673 130422673 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 130422673 130422673 G A SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known nonsense c.2992 p.R998* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 113 0 0 112 24 17.6471 CPNE4 0 genome.wustl.edu 37 3 131283121 131283121 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 131283121 131283121 G A SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known nonsense c.1054 p.Q352* 1.000 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 93 0 0 91 11 10.7843 NUP210 0 genome.wustl.edu 37 3 13372050 13372050 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 13372050 13372050 T C SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known silent c.4020 p.L1340 0.297 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 147 0 0 122 31 20.2614 NUP210 0 genome.wustl.edu 37 3 13384760 13384760 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 13384760 13384760 T C SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.2879 p.D960G 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 73 0 0 45 9 16.6667 PPP2R3A 0 genome.wustl.edu 37 3 135721928 135721928 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 135721928 135721928 C T SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.1588 p.P530S 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 84 0 0 82 9 9.89011 STAG1 0 genome.wustl.edu 37 3 136059352 136059352 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 136059352 136059352 T C SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.3653 p.D1218G 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 84 0 0 63 18 22.2222 SOX14 0 genome.wustl.edu 37 3 137484306 137484306 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 137484306 137484306 C T SNP SOX14 ENST00000306087 human ensembl 74_37 +1 known missense c.680 p.T227I 1.000 NULL pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX14 HGNC ENSG00000168875 63 0 0 36 7 16.2791 COPB2 0 genome.wustl.edu 37 3 139080026 139080026 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 139080026 139080026 C T SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.2107 p.A703T 1.000 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 134 0 0 105 23 17.9688 XPC 0 genome.wustl.edu 37 3 14199997 14199997 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 14199997 14199997 A G SNP XPC ENST00000285021 human ensembl 74_37 -1 known silent c.1386 p.P462 0.196 tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 32 0 0 37 4 9.7561 ATR 0 genome.wustl.edu 37 3 142176461 142176461 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 142176461 142176461 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.7640 p.R2547Q 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 61 0 0 63 16 20.2532 ATR 0 genome.wustl.edu 37 3 142216005 142216005 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 142216005 142216005 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.5588 p.S1863N 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 93 0 0 83 13 13.5417 TRPC1 0 genome.wustl.edu 37 3 142521156 142521156 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 142521156 142521156 G A SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.1727 p.C576Y 1.000 pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 66 0 0 50 6 10.7143 IGSF10 0 genome.wustl.edu 37 3 151164676 151164676 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 151164676 151164676 C T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.3093 p.L1031 0.009 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 111 0 0 95 10 9.52381 SUCNR1 0 genome.wustl.edu 37 3 151598580 151598580 + Nonsense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 151598580 151598580 T A SNP SUCNR1 ENST00000362032 human ensembl 74_37 +1 known nonsense c.249 p.Y83* 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors SUCNR1 HGNC ENSG00000198829 84 0 0 63 7 10 P2RY1 0 genome.wustl.edu 37 3 152553661 152553661 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 152553661 152553661 C T SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known silent c.90 p.V30 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 42 0 0 24 10 29.4118 GALNT15 0 genome.wustl.edu 37 3 16254150 16254150 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 16254150 16254150 C A SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known silent c.1272 p.S424 0.003 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 65 0 0 42 8 16 RFTN1 0 genome.wustl.edu 37 3 16358435 16358435 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 16358435 16358435 G A SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known missense c.1637 p.A546V 0.001 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 104 0 0 79 5 5.95238 MYNN 0 genome.wustl.edu 37 3 169497257 169497257 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 169497257 169497257 T A SNP MYNN ENST00000349841 human ensembl 74_37 +1 known missense c.968 p.I323K 1.000 pfam_Znf_C2H2,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 MYNN HGNC ENSG00000085274 71 0 0 50 7 12.2807 LOC100128164 0 genome.wustl.edu 37 3 169664031 169664031 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 169664031 169664031 C T SNP LOC100128164 ENST00000483289 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-379K17.4 Clone_based_vega_gene ENSG00000239219 93 0 0 64 24 27.2727 TBC1D5 0 genome.wustl.edu 37 3 17415970 17415970 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 17415970 17415970 C T SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known missense c.815 p.G272D 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 23 0 0 28 4 12.5 NAALADL2 0 genome.wustl.edu 37 3 174951945 174951945 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 174951945 174951945 A G SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.770 p.Q257R 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 67 0 0 54 11 16.9231 ABCC5 0 genome.wustl.edu 37 3 183682976 183682976 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 183682976 183682976 C T SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known silent c.2028 p.T676 0.190 pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 47 0 0 31 9 22.5 EIF4G1 0 genome.wustl.edu 37 3 184040373 184040373 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 184040373 184040373 A G SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known silent c.1671 p.A557 0.002 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 40 0 0 33 9 21.4286 EPHB3 0 genome.wustl.edu 37 3 184299146 184299146 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 184299146 184299146 C T SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known silent c.2838 p.F946 0.430 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 78 0 0 44 12 21.4286 IGF2BP2 0 genome.wustl.edu 37 3 185363401 185363401 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 185363401 185363401 C T SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known missense c.1718 p.R573H 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 IGF2BP2 HGNC ENSG00000073792 57 0 0 42 6 12.5 EIF4A2 0 genome.wustl.edu 37 3 186504931 186504931 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 186504931 186504931 A G SNP EIF4A2 ENST00000440191 human ensembl 74_37 +1 known missense c.790 p.T264A 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 116 0 0 109 20 15.5039 MASP1 0 genome.wustl.edu 37 3 186954151 186954151 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 186954151 186954151 C T SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1508 p.R503H 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 52 0 0 25 8 24.2424 MUC4 0 genome.wustl.edu 37 3 195506181 195506181 + Silent SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 195506181 195506181 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.12270 p.S4090 0.008 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 10 0 0 7 6 46.1538 PIGX 0 genome.wustl.edu 37 3 196454970 196454970 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 196454970 196454970 G A SNP PIGX ENST00000296333 human ensembl 74_37 +1 known silent c.495 p.V165 0.920 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 pfam_PIG-X/PBN1,smart_PIG-X/PBN1 - no_errors PIGX HGNC ENSG00000163964 52 0 0 54 4 6.89655 PAK2 0 genome.wustl.edu 37 3 196509566 196509566 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 196509566 196509566 C T SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known nonsense c.49 p.R17* 1.000 NULL 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 216 0 0 189 32 14.4796 RARB 0 genome.wustl.edu 37 3 25622154 25622154 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 25622154 25622154 A G SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.748 p.T250A 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 89 0 0 59 10 14.4928 CCR4 0 genome.wustl.edu 37 3 32995805 32995805 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 32995805 32995805 C T SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known silent c.891 p.C297 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Duffy_chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 94 0 0 59 12 16.9014 MLH1 0 genome.wustl.edu 37 3 37092047 37092047 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 37092047 37092047 G A SNP MLH1 ENST00000231790 human ensembl 74_37 +1 known missense c.2174 p.R725H 1.000 NULL pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 64 0 0 56 14 20 MYD88 0 genome.wustl.edu 37 3 38182330 38182330 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 38182330 38182330 C T SNP MYD88 ENST00000417037 human ensembl 74_37 +1 known missense c.790 p.L264F 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 80 0 0 51 16 23.8806 EXOG 0 genome.wustl.edu 37 3 38565416 38565416 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 38565416 38565416 G A SNP EXOG ENST00000287675 human ensembl 74_37 +1 known missense c.670 p.V224I 0.995 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors EXOG HGNC ENSG00000157036 54 0 0 48 14 22.5806 SCN11A 0 genome.wustl.edu 37 3 38936340 38936340 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 38936340 38936340 C T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.2519 p.R840H 0.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 92 0 0 58 11 15.942 WDR48 0 genome.wustl.edu 37 3 39119656 39119656 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 39119656 39119656 C T SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.1001 p.A334V 1.000 NULL pfam_DUF3337,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 WDR48 HGNC ENSG00000114742 71 0 0 51 11 17.7419 CX3CR1 0 genome.wustl.edu 37 3 39307048 39307048 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 39307048 39307048 C T SNP CX3CR1 ENST00000358309 human ensembl 74_37 -1 known missense c.1049 p.R350H 0.000 prints_Chemokine_CX3CR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 185 0 0 139 38 21.4689 ZNF445 0 genome.wustl.edu 37 3 44489280 44489280 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 44489280 44489280 G A SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.1883 p.T628I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 110 0 0 76 14 15.5556 LARS2 0 genome.wustl.edu 37 3 45527238 45527238 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 45527238 45527238 T A SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known missense c.1073 p.V358D 0.470 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 180 0 0 131 23 14.9351 LIMD1 0 genome.wustl.edu 37 3 45636559 45636559 + Missense_Mutation SNP A A C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 45636559 45636559 A C SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known missense c.188 p.Q63P 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 25 0 0 21 6 22.2222 ALS2CL 0 genome.wustl.edu 37 3 46718370 46718370 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 46718370 46718370 G A SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.1900 p.R634C 0.407 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 91 0 0 59 16 21.3333 PRSS45 0 genome.wustl.edu 37 3 46783906 46783906 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 46783906 46783906 T C SNP PRSS45 ENST00000442359 human ensembl 74_37 -1 known silent c.621 p.S207 0.000 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS45 HGNC ENSG00000188086 113 0 0 81 17 17.3469 SMARCC1 0 genome.wustl.edu 37 3 47719763 47719763 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 47719763 47719763 C T SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.1496 p.R499H 1.000 pfam_SWIRM,superfamily_Homeodomain-like,pfscan_SWIRM pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 136 0 0 133 24 15.2866 ZNF589 0 genome.wustl.edu 37 3 48302376 48302376 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 48302376 48302376 G T SNP ZNF589 ENST00000354698 human ensembl 74_37 +1 known missense c.170 p.R57M 0.988 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF589 HGNC ENSG00000164048 63 0 0 68 13 16.0494 ITPR1 0 genome.wustl.edu 37 3 4856237 4856237 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 4856237 4856237 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.7647 p.P2549 0.001 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 48 0 0 39 15 27.7778 NDUFAF3 0 genome.wustl.edu 37 3 49059972 49059972 + Splice_Site SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 49059972 49059972 G A SNP NDUFAF3 ENST00000326925 human ensembl 74_37 +1 known splice_site c.270+1 e2+1 1.000 - - - no_errors NDUFAF3 HGNC ENSG00000178057 37 0 0 22 4 15.3846 USP19 0 genome.wustl.edu 37 3 49149019 49149019 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 49149019 49149019 G T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.2822 p.T941N 0.220 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 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 24 0 0 17 4 19.0476 NAT6 0 genome.wustl.edu 37 3 50334066 50334066 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 50334066 50334066 G A SNP NAT6 ENST00000354862 human ensembl 74_37 -1 known missense c.895 p.R299C 0.416 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT6 HGNC ENSG00000243477 40 0 0 35 4 10.2564 RASSF1 0 genome.wustl.edu 37 3 50369149 50369149 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 50369149 50369149 G A SNP RASSF1 ENST00000357043 human ensembl 74_37 -1 known missense c.613 p.R205C 1.000 smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC ENSG00000068028 81 0 0 45 13 22.4138 GRM2 0 genome.wustl.edu 37 3 51746888 51746888 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 51746888 51746888 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.850 p.R284C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 24 0 0 24 4 14.2857 ABHD14A 0 genome.wustl.edu 37 3 52014951 52014951 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 52014951 52014951 C T SNP ABHD14A ENST00000273596 human ensembl 74_37 +1 known missense c.733 p.R245C 0.697 NULL pfam_Lysophospholipase_put - no_errors ABHD14A HGNC ENSG00000248487 75 0 0 54 10 15.625 DNAH1 0 genome.wustl.edu 37 3 52400871 52400871 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 52400871 52400871 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.5733 p.L1911 0.953 pfam_ATPase_dyneun-rel_AAA,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 98 0 0 74 16 17.7778 BAP1 0 genome.wustl.edu 37 3 52437234 52437234 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 52437234 52437234 C T SNP BAP1 ENST00000460680 human ensembl 74_37 -1 known missense c.1810 p.V604M 0.001 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 49 0 0 35 5 12.5 BAP1 0 genome.wustl.edu 37 3 52439832 52439832 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 52439832 52439832 G A SNP BAP1 ENST00000460680 human ensembl 74_37 -1 known silent c.880 p.L294 0.000 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 35 0 0 34 3 8.10811 GLT8D1 0 genome.wustl.edu 37 3 52729486 52729486 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 52729486 52729486 G A SNP GLT8D1 ENST00000266014 human ensembl 74_37 -1 known nonsense c.763 p.R255* 0.996 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 140 0 0 105 20 16 ITIH4 0 genome.wustl.edu 37 3 52858944 52858944 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 52858944 52858944 C T SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known missense c.790 p.A264T 1.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 41 0 0 26 4 13.3333 IL17RD 0 genome.wustl.edu 37 3 57132279 57132279 + Nonsense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 57132279 57132279 G T SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known nonsense c.1452 p.C484* 0.631 pfam_SEFIR pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 35 0 0 24 5 17.2414 SLMAP 0 genome.wustl.edu 37 3 57743544 57743544 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 57743544 57743544 G A SNP SLMAP ENST00000428312 human ensembl 74_37 +1 known missense c.166 p.A56T 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 39 0 0 23 6 20.6897 PTPRG 0 genome.wustl.edu 37 3 62253473 62253473 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 62253473 62253473 G A SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known silent c.2853 p.T951 0.154 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 125 0 0 99 10 9.17431 FEZF2 0 genome.wustl.edu 37 3 62355818 62355818 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 62355818 62355818 G A SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known silent c.1320 p.H440 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 65 0 0 46 9 16.3636 SYNPR 0 genome.wustl.edu 37 3 63466538 63466538 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 63466538 63466538 G A SNP SYNPR ENST00000478300 human ensembl 74_37 +1 known missense c.115 p.G39S 1.000 pfam_Marvel,prints_Synaptophysin/porin pfam_Marvel,prints_Synaptophysin/porin - no_errors SYNPR HGNC ENSG00000163630 150 0 0 124 26 17.3333 ADAMTS9 0 genome.wustl.edu 37 3 64547403 64547403 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 64547403 64547403 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.4549 p.V1517I 0.003 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 103 0 0 68 20 22.7273 LMOD3 0 genome.wustl.edu 37 3 69167997 69167997 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 69167997 69167997 T C SNP LMOD3 ENST00000420581 human ensembl 74_37 -1 known silent c.1509 p.R503 1.000 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 40 0 0 30 7 18.9189 GRM7 0 genome.wustl.edu 37 3 7620434 7620434 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 7620434 7620434 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.1841 p.R614H 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 143 0 0 101 23 18.5484 SSUH2 0 genome.wustl.edu 37 3 8669394 8669394 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 8669394 8669394 C T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.664 p.G222S 0.113 superfamily_HSP_DnaJ_Cys-rich_dom superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 49 0 0 26 8 23.5294 BRPF1 0 genome.wustl.edu 37 3 9784848 9784848 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 9784848 9784848 A G SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.2222 p.Q741R 1.000 superfamily_Bromodomain 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 31 0 0 35 6 14.6341 OR5H2 0 genome.wustl.edu 37 3 98001806 98001806 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 98001806 98001806 G A SNP OR5H2 ENST00000355273 human ensembl 74_37 +1 known silent c.75 p.Q25 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H2 HGNC ENSG00000197938 204 0 0 194 38 16.3793 CRELD1 0 genome.wustl.edu 37 3 9986201 9986201 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 9986201 9986201 A G SNP CRELD1 ENST00000383811 human ensembl 74_37 +1 known missense c.1201 p.T401A 1.000 NULL pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD1 HGNC ENSG00000163703 58 0 0 42 7 14.2857 TET2 0 genome.wustl.edu 37 4 106157341 106157341 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 106157341 106157341 T A SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.2242 p.L748I 0.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 89 0 0 67 18 21.1765 MAD2L1 0 genome.wustl.edu 37 4 120983144 120983144 + Silent SNP A A C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 120983144 120983144 A C SNP MAD2L1 ENST00000296509 human ensembl 74_37 -1 known silent c.327 p.T109 0.997 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L1 HGNC ENSG00000164109 36 0 0 38 6 13.6364 SPRY1 0 genome.wustl.edu 37 4 124323363 124323363 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 124323363 124323363 G A SNP SPRY1 ENST00000339241 human ensembl 74_37 +1 known missense c.617 p.R206Q 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY1 HGNC ENSG00000164056 109 0 0 79 17 17.7083 FAT4 0 genome.wustl.edu 37 4 126370353 126370353 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 126370353 126370353 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8182 p.V2728I 0.028 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 125 0 0 91 18 16.5138 FAT4 0 genome.wustl.edu 37 4 126398366 126398366 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 126398366 126398366 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.12350 p.P4117L 0.986 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 223 0 0 197 25 11.2613 FAT4 0 genome.wustl.edu 37 4 126411789 126411789 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 126411789 126411789 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.13812 p.T4604 0.998 NULL 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 73 0 0 74 10 11.9048 PCDH10 0 genome.wustl.edu 37 4 134071537 134071537 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 134071537 134071537 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.242 p.R81H 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 158 0 0 116 15 11.4504 PCDH10 0 genome.wustl.edu 37 4 134072675 134072675 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 134072675 134072675 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.1380 p.A460 0.991 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 PCDH10 HGNC ENSG00000138650 70 0 0 54 8 12.9032 BOD1L1 0 genome.wustl.edu 37 4 13597501 13597501 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 13597501 13597501 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.8087 p.G2696E 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 185 0 0 168 24 12.5 LRBA 0 genome.wustl.edu 37 4 151773292 151773292 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 151773292 151773292 C T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.3570 p.M1190I 0.465 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 113 0 0 76 17 18.2796 FBXW7 0 genome.wustl.edu 37 4 153271192 153271192 + Splice_Site SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 153271192 153271192 A G SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known splice_site c.584+2 e2+2 1.000 - - - no_errors FBXW7 HGNC ENSG00000109670 8 0 0 8 4 33.3333 FHDC1 0 genome.wustl.edu 37 4 153897150 153897150 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 153897150 153897150 C T SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.2707 p.R903C 1.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 51 0 0 26 7 21.2121 TRIM2 0 genome.wustl.edu 37 4 154243896 154243896 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 154243896 154243896 T C SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known missense c.1879 p.F627L 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 69 0 0 51 13 20.3125 MAP9 0 genome.wustl.edu 37 4 156289916 156289916 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 156289916 156289916 C T SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known missense c.530 p.R177Q 0.926 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 78 0 0 60 9 13.0435 GLRB 0 genome.wustl.edu 37 4 158074033 158074033 + Missense_Mutation SNP C C G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 158074033 158074033 C G SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.1068 p.N356K 0.990 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_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 82 0 0 67 10 12.987 FAM198B 0 genome.wustl.edu 37 4 159092395 159092395 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 159092395 159092395 C T SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.133 p.A45T 0.991 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 42 0 0 21 12 36.3636 KLHL2 0 genome.wustl.edu 37 4 166215608 166215608 + Silent SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 166215608 166215608 T G SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known silent c.642 p.S214 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 41 0 0 39 7 15.2174 DDX60 0 genome.wustl.edu 37 4 169194431 169194431 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 169194431 169194431 T C SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.2573 p.Q858R 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 74 0 0 61 8 11.5942 CEP44 0 genome.wustl.edu 37 4 175231102 175231102 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 175231102 175231102 T C SNP CEP44 ENST00000426172 human ensembl 74_37 +1 known silent c.780 p.C260 0.861 NULL NULL - no_errors CEP44 HGNC ENSG00000164118 67 0 0 41 21 33.871 GLRA3 0 genome.wustl.edu 37 4 175598374 175598374 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 175598374 175598374 T C SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known missense c.782 p.Y261C 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 53 0 0 50 9 15.2542 ASB5 0 genome.wustl.edu 37 4 177142368 177142368 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 177142368 177142368 G A SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known missense c.608 p.T203I 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 70 0 0 67 17 20.2381 VEGFC 0 genome.wustl.edu 37 4 177648991 177648991 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 177648991 177648991 A G SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.493 p.C165R 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 103 0 0 82 12 12.766 CDKN2AIP 0 genome.wustl.edu 37 4 184368553 184368553 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 184368553 184368553 A G SNP CDKN2AIP ENST00000504169 human ensembl 74_37 +1 known silent c.1716 p.A572 0.883 NULL pfam_DUF3469,pfscan_dsRNA-bd_dom - no_errors CDKN2AIP HGNC ENSG00000168564 248 0 0 214 35 14.0562 TRAPPC11 0 genome.wustl.edu 37 4 184585026 184585026 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 184585026 184585026 C T SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known silent c.6 p.S2 0.982 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 51 0 0 54 12 18.1818 CCDC110 0 genome.wustl.edu 37 4 186381064 186381064 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 186381064 186381064 G T SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known missense c.677 p.T226N 0.001 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 54 0 0 64 5 7.24638 F11 0 genome.wustl.edu 37 4 187195296 187195296 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 187195296 187195296 C A SNP F11 ENST00000403665 human ensembl 74_37 +1 known missense c.352 p.L118I 0.072 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 100 0 0 87 10 10.3093 FAM193A 0 genome.wustl.edu 37 4 2673877 2673877 + Nonsense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 2673877 2673877 T A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known nonsense c.1236 p.C412* 0.997 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 79 0 0 47 16 25.3968 STIM2 0 genome.wustl.edu 37 4 27024459 27024459 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 27024459 27024459 C T SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known silent c.2367 p.R789 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 118 0 0 83 15 15.3061 ADD1 0 genome.wustl.edu 37 4 2916624 2916624 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 2916624 2916624 C T SNP ADD1 ENST00000264758 human ensembl 74_37 +1 known missense c.1712 p.T571M 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 55 0 0 50 8 13.7931 PCDH7 0 genome.wustl.edu 37 4 30723234 30723234 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 30723234 30723234 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.190 p.V64M 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 35 0 0 19 3 13.6364 PCDH7 0 genome.wustl.edu 37 4 30724012 30724012 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 30724012 30724012 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.968 p.P323L 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 17 0 0 12 4 25 APBB2 0 genome.wustl.edu 37 4 41016202 41016202 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 41016202 41016202 G A SNP APBB2 ENST00000295974 human ensembl 74_37 -1 known missense c.233 p.A78V 1.000 NULL pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB2 HGNC ENSG00000163697 103 0 0 57 16 21.9178 OTOP1 0 genome.wustl.edu 37 4 4204211 4204211 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 4204211 4204211 G A SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known missense c.694 p.R232W 0.967 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 98 0 0 87 23 20.9091 LYAR 0 genome.wustl.edu 37 4 4283520 4283520 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 4283520 4283520 G T SNP LYAR ENST00000343470 human ensembl 74_37 -1 known missense c.227 p.A76E 0.972 NULL pfam_Znf_C2H2_LYAR - no_errors LYAR HGNC ENSG00000145220 170 1 0.584795 119 19 13.7681 GABRA4 0 genome.wustl.edu 37 4 46976326 46976326 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 46976326 46976326 G A SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.644 p.P215L 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 87 0 0 70 16 18.6047 SCFD2 0 genome.wustl.edu 37 4 54231634 54231634 + Missense_Mutation SNP A A C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 54231634 54231634 A C SNP SCFD2 ENST00000401642 human ensembl 74_37 -1 known missense c.475 p.L159V 0.882 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 59 0 0 36 4 10 STK32B 0 genome.wustl.edu 37 4 5468447 5468447 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 5468447 5468447 C T SNP STK32B ENST00000282908 human ensembl 74_37 +1 known silent c.927 p.C309 0.932 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 STK32B HGNC ENSG00000152953 49 0 0 39 11 22 EVC2 0 genome.wustl.edu 37 4 5624508 5624508 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 5624508 5624508 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2257 p.R753C 1.000 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 48 0 0 36 5 12.1951 EVC 0 genome.wustl.edu 37 4 5754686 5754686 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 5754686 5754686 G A SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1222 p.A408T 0.062 NULL NULL - no_errors EVC HGNC ENSG00000072840 12 0 0 10 3 23.0769 PPP2R2C 0 genome.wustl.edu 37 4 6377649 6377649 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 6377649 6377649 A G SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known missense c.344 p.I115T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 77 0 0 59 18 23.3766 MAN2B2 0 genome.wustl.edu 37 4 6606969 6606969 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 6606969 6606969 C T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.1727 p.A576V 0.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom 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 61 0 0 46 3 6.12245 CENPC 0 genome.wustl.edu 37 4 68380266 68380266 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 68380266 68380266 C T SNP CENPC ENST00000273853 human ensembl 74_37 -1 known missense c.970 p.A324T 0.002 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 25 0 0 16 4 20 KIAA0232 0 genome.wustl.edu 37 4 6865064 6865064 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 6865064 6865064 G A SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known silent c.2955 p.G985 0.265 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 76 0 0 70 5 6.66667 CSN3 0 genome.wustl.edu 37 4 71114881 71114881 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 71114881 71114881 C T SNP CSN3 ENST00000304954 human ensembl 74_37 +1 known missense c.254 p.A85V 0.000 pfam_Casein_kappa,pirsf_Casein_kappa pfam_Casein_kappa,pirsf_Casein_kappa - no_errors CSN3 HGNC ENSG00000171209 70 0 0 52 11 17.4603 PPEF2 0 genome.wustl.edu 37 4 76787346 76787346 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 76787346 76787346 C T SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.1916 p.R639H 0.001 pirsf_Ser/Thr-Pase_EF-hand_contain pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 140 1 0.70922 110 26 19.1176 FRAS1 0 genome.wustl.edu 37 4 79437097 79437097 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 79437097 79437097 C A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.10319 p.T3440N 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 73 0 0 45 11 19.6429 GAK 0 genome.wustl.edu 37 4 860918 860918 + Missense_Mutation SNP C C G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 860918 860918 C G SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.2698 p.A900P 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 19 0 0 13 4 23.5294 GAK 0 genome.wustl.edu 37 4 861151 861151 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 861151 861151 T C SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.2465 p.D822G 0.137 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 75 0 0 62 19 23.4568 ARHGAP24 0 genome.wustl.edu 37 4 86898809 86898809 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 86898809 86898809 G A SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.893 p.R298H 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom 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 69 0 0 57 10 14.9254 SPP1 0 genome.wustl.edu 37 4 88903760 88903760 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 88903760 88903760 C T SNP SPP1 ENST00000395080 human ensembl 74_37 +1 known silent c.657 p.S219 0.988 pfam_Osteopontin,smart_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 121 0 0 106 17 13.8211 RAP1GDS1 0 genome.wustl.edu 37 4 99313170 99313170 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 99313170 99313170 C T SNP RAP1GDS1 ENST00000339360 human ensembl 74_37 +1 known silent c.579 p.H193 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 59 0 0 49 7 12.5 ST8SIA4 0 genome.wustl.edu 37 5 100222222 100222222 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 100222222 100222222 A G SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.328 p.Y110H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 110 0 0 80 15 15.7895 FAM173B 0 genome.wustl.edu 37 5 10239183 10239183 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 10239183 10239183 C T SNP FAM173B ENST00000511437 human ensembl 74_37 -1 known missense c.302 p.R101H 0.955 NULL NULL - no_errors FAM173B HGNC ENSG00000150756 130 0 0 76 22 22.449 NUDT12 0 genome.wustl.edu 37 5 102890483 102890483 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 102890483 102890483 G A SNP NUDT12 ENST00000230792 human ensembl 74_37 -1 known missense c.1036 p.P346S 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC ENSG00000112874 65 0 0 63 12 16 FAM170A 0 genome.wustl.edu 37 5 118965518 118965518 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 118965518 118965518 G A SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known missense c.55 p.A19T 0.000 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 218 0 0 145 25 14.7059 ZNF608 0 genome.wustl.edu 37 5 124036739 124036739 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 124036739 124036739 A G SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.1130 p.L377S 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 101 0 0 88 11 11.1111 MEGF10 0 genome.wustl.edu 37 5 126781226 126781226 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 126781226 126781226 G A SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.2569 p.G857R 1.000 NULL pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 88 0 0 67 17 20.2381 ADAMTS19 0 genome.wustl.edu 37 5 128983558 128983558 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 128983558 128983558 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.1955 p.G652E 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS 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 133 0 0 128 9 6.56934 RAPGEF6 0 genome.wustl.edu 37 5 130846113 130846113 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 130846113 130846113 G A SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known silent c.699 p.D233 0.984 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 69 0 0 60 11 15.493 PPP2CA 0 genome.wustl.edu 37 5 133536739 133536739 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 133536739 133536739 C T SNP PPP2CA ENST00000481195 human ensembl 74_37 -1 known silent c.513 p.S171 0.993 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CA HGNC ENSG00000113575 52 0 0 73 11 13.0952 LECT2 0 genome.wustl.edu 37 5 135283098 135283098 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 135283098 135283098 C T SNP LECT2 ENST00000274507 human ensembl 74_37 -1 known silent c.378 p.L126 1.000 pfam_Peptidase_M23,pirsf_LECT2_chordata pfam_Peptidase_M23,pirsf_LECT2_chordata - no_errors LECT2 HGNC ENSG00000145826 93 0 0 64 19 22.8916 KLHL3 0 genome.wustl.edu 37 5 136964110 136964110 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 136964110 136964110 G A SNP KLHL3 ENST00000541417 human ensembl 74_37 -1 known missense c.560 p.A187V 0.262 NULL pfam_BACK,smart_BACK - no_errors KLHL3 HGNC ENSG00000146021 141 0 0 108 38 26.0274 NPY6R 0 genome.wustl.edu 37 5 137144426 137144426 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 137144426 137144426 C T SNP NPY6R ENST00000510937 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NPY6R HGNC ENSG00000226306 32 0 0 24 3 11.1111 SLC23A1 0 genome.wustl.edu 37 5 138715412 138715412 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 138715412 138715412 C T SNP SLC23A1 ENST00000353963 human ensembl 74_37 -1 known missense c.892 p.G298S 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 26 0 0 28 8 22.2222 PCDHA2 0 genome.wustl.edu 37 5 140176157 140176157 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140176157 140176157 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.1608 p.S536 0.093 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 PCDHA2 HGNC ENSG00000204969 85 0 0 34 9 20.9302 PCDHA3 0 genome.wustl.edu 37 5 140181571 140181571 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140181571 140181571 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.789 p.T263 0.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 65 0 0 68 11 13.9241 PCDHA3 0 genome.wustl.edu 37 5 140182272 140182272 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140182272 140182272 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1490 p.R497Q 0.301 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 PCDHA3 HGNC ENSG00000255408 96 0 0 61 16 20.7792 PCDHA4 0 genome.wustl.edu 37 5 140186905 140186905 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140186905 140186905 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.133 p.V45M 1.000 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 PCDHA4 HGNC ENSG00000204967 93 0 0 74 5 6.32911 PCDHA4 0 genome.wustl.edu 37 5 140188263 140188263 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140188263 140188263 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1491 p.R497 0.959 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 90 0 0 55 13 19.1176 PCDHA5 0 genome.wustl.edu 37 5 140203557 140203557 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140203557 140203557 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.2197 p.R733W 0.008 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 73 0 0 37 9 19.5652 PCDHA6 0 genome.wustl.edu 37 5 140209209 140209209 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140209209 140209209 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.1533 p.H511 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 85 0 0 64 12 15.7895 PCDHA6 0 genome.wustl.edu 37 5 140209726 140209726 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140209726 140209726 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.2050 p.V684M 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 72 0 0 53 9 14.5161 PCDHA13 0 genome.wustl.edu 37 5 140263605 140263605 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140263605 140263605 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1752 p.S584 0.139 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 108 0 0 53 15 22.0588 PCDHA13 0 genome.wustl.edu 37 5 140264042 140264042 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140264042 140264042 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.2189 p.G730D 0.900 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 97 0 0 55 11 16.6667 PCDHB11 0 genome.wustl.edu 37 5 140579471 140579471 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140579471 140579471 G A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.124 p.G42R 0.596 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 68 0 0 55 10 15.3846 PCDHB11 0 genome.wustl.edu 37 5 140580614 140580614 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140580614 140580614 G A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.1267 p.V423I 0.225 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 PCDHB11 HGNC ENSG00000197479 206 1 0.483092 140 29 17.1598 PCDHB11 0 genome.wustl.edu 37 5 140581384 140581384 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140581384 140581384 C A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.2037 p.A679 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 96 0 0 68 17 20 TAF7 0 genome.wustl.edu 37 5 140698866 140698866 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140698866 140698866 G A SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known missense c.746 p.T249M 1.000 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 142 0 0 119 21 15 TAF7 0 genome.wustl.edu 37 5 140699557 140699557 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140699557 140699557 G A SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known missense c.55 p.R19C 1.000 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 139 0 0 100 29 22.4806 PCDHGA5 0 genome.wustl.edu 37 5 140745350 140745350 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140745350 140745350 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.1453 p.A485T 0.964 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 PCDHGA5 HGNC ENSG00000253485 209 0 0 134 40 22.9885 PCDHGA6 0 genome.wustl.edu 37 5 140754322 140754322 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140754322 140754322 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.672 p.S224 0.001 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 PCDHGA6 HGNC ENSG00000253731 33 0 0 21 4 16 GNPDA1 0 genome.wustl.edu 37 5 141385882 141385882 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 141385882 141385882 C T SNP GNPDA1 ENST00000311337 human ensembl 74_37 -1 known missense c.236 p.R79Q 1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA1 HGNC ENSG00000113552 60 0 0 58 13 18.3099 MYOZ3 0 genome.wustl.edu 37 5 150056388 150056388 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 150056388 150056388 G A SNP MYOZ3 ENST00000297130 human ensembl 74_37 +1 known missense c.707 p.R236K 1.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ3 HGNC ENSG00000164591 87 0 0 63 9 12.5 SLC36A1 0 genome.wustl.edu 37 5 150846761 150846761 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 150846761 150846761 C T SNP SLC36A1 ENST00000243389 human ensembl 74_37 +1 known missense c.421 p.R141C 0.902 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 111 0 0 93 15 13.8889 GRIA1 0 genome.wustl.edu 37 5 153190682 153190682 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 153190682 153190682 G T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.2648 p.G883V 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 57 0 0 38 6 13.6364 RNF145 0 genome.wustl.edu 37 5 158630640 158630640 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 158630640 158630640 T C SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.76 p.K26E 0.001 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 59 0 0 50 8 13.7931 ATP10B 0 genome.wustl.edu 37 5 160113246 160113246 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 160113246 160113246 A G SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known silent c.310 p.L104 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 46 0 0 24 5 17.2414 GABRB2 0 genome.wustl.edu 37 5 160721153 160721153 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 160721153 160721153 G A SNP GABRB2 ENST00000274547 human ensembl 74_37 -1 known missense c.1474 p.R492C 0.986 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 100 0 0 63 15 19.2308 GABRG2 0 genome.wustl.edu 37 5 161520894 161520894 + Silent SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 161520894 161520894 C A SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known silent c.168 p.V56 1.000 prints_GABBAg_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 86 0 0 66 10 13.1579 MYO10 0 genome.wustl.edu 37 5 16699619 16699619 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 16699619 16699619 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.3496 p.R1166C 0.941 NULL 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 51 0 0 52 15 22.3881 MYO10 0 genome.wustl.edu 37 5 16764481 16764481 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 16764481 16764481 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.1204 p.A402T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 96 0 0 68 21 23.5955 LCP2 0 genome.wustl.edu 37 5 169689854 169689854 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 169689854 169689854 T C SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known silent c.810 p.P270 0.000 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 122 0 0 97 9 8.49057 NKX2-5 0 genome.wustl.edu 37 5 172659583 172659583 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 172659583 172659583 G A SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known nonsense c.964 p.R322* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 44 0 0 17 3 15 HMP19 0 genome.wustl.edu 37 5 173534316 173534316 + Splice_Site SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 173534316 173534316 G A SNP HMP19 ENST00000303177 human ensembl 74_37 +1 known splice_site c.325-1 e4-1 1.000 - - - no_errors NSG2 Uniprot_gn ENSG00000170091 83 0 0 57 11 16.1765 HK3 0 genome.wustl.edu 37 5 176314232 176314232 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 176314232 176314232 G A SNP HK3 ENST00000292432 human ensembl 74_37 -1 known silent c.1707 p.P569 0.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 29 0 0 27 5 15.625 HK3 0 genome.wustl.edu 37 5 176317898 176317898 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 176317898 176317898 C T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known silent c.459 p.A153 0.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 61 0 0 54 9 14.2857 FGFR4 0 genome.wustl.edu 37 5 176523152 176523152 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 176523152 176523152 A G SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.1916 p.H639R 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 48 0 0 31 3 8.82353 NSD1 0 genome.wustl.edu 37 5 176678848 176678848 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 176678848 176678848 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.4759 p.R1587C 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 79 0 0 74 12 13.9535 NSD1 0 genome.wustl.edu 37 5 176721549 176721549 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 176721549 176721549 A G SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.7180 p.I2394V 0.000 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 116 0 0 94 22 18.9655 BTNL9 0 genome.wustl.edu 37 5 180475169 180475169 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 180475169 180475169 C T SNP BTNL9 ENST00000376842 human ensembl 74_37 +1 known silent c.352 p.L118 0.115 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTNL9 HGNC ENSG00000165810 50 0 0 28 7 20 PDZD2 0 genome.wustl.edu 37 5 32069705 32069705 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 32069705 32069705 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.2482 p.A828T 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 56 0 0 64 14 17.9487 PDZD2 0 genome.wustl.edu 37 5 32088835 32088835 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 32088835 32088835 A G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.5281 p.S1761G 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 81 0 0 59 14 19.1781 ADAMTS12 0 genome.wustl.edu 37 5 33576232 33576232 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 33576232 33576232 A G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.3899 p.L1300P 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 193 0 0 116 30 20.5479 NIPBL 0 genome.wustl.edu 37 5 36976272 36976272 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 36976272 36976272 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.1263 p.S421 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 106 0 0 82 15 15.4639 NIPBL 0 genome.wustl.edu 37 5 37022373 37022373 + Nonsense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 37022373 37022373 C T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known nonsense c.5455 p.R1819* 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 42 0 0 35 7 16.6667 LIFR 0 genome.wustl.edu 37 5 38506042 38506042 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 38506042 38506042 G A SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.1256 p.S419L 0.711 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 127 0 0 101 14 12.1739 PTGER4 0 genome.wustl.edu 37 5 40681634 40681634 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 40681634 40681634 C T SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.539 p.A180V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 47 0 0 35 3 7.89474 MROH2B 0 genome.wustl.edu 37 5 40998235 40998235 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 40998235 40998235 C T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known silent c.4677 p.P1559 0.994 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 200 0 0 153 35 18.617 PLCXD3 0 genome.wustl.edu 37 5 41382224 41382224 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 41382224 41382224 T C SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known silent c.516 p.P172 0.999 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 134 0 0 105 22 17.3228 EXOC3 0 genome.wustl.edu 37 5 465271 465271 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 465271 465271 C T SNP EXOC3 ENST00000315013 human ensembl 74_37 +1 known missense c.1822 p.R608W 1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 13 0 0 10 2 16.6667 ARL15 0 genome.wustl.edu 37 5 53409092 53409092 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 53409092 53409092 A G SNP ARL15 ENST00000504924 human ensembl 74_37 -1 known silent c.402 p.T134 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL15 HGNC ENSG00000185305 64 0 0 46 11 19.2982 MAP3K1 0 genome.wustl.edu 37 5 56177584 56177584 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 56177584 56177584 C T SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.2557 p.R853C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 105 0 0 76 15 16.4835 ADAMTS6 0 genome.wustl.edu 37 5 64556430 64556430 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 64556430 64556430 T C SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known silent c.1827 p.T609 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,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 24 0 0 34 8 19.0476 BDP1 0 genome.wustl.edu 37 5 70840949 70840949 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 70840949 70840949 C T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.6647 p.T2216I 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 117 0 0 94 21 18.2609 MAP1B 0 genome.wustl.edu 37 5 71495820 71495820 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 71495820 71495820 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.6638 p.R2213H 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 179 0 0 137 30 17.9641 HMGCR 0 genome.wustl.edu 37 5 74655088 74655088 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 74655088 74655088 G A SNP HMGCR ENST00000287936 human ensembl 74_37 +1 known missense c.2251 p.A751T 1.000 pfam_HMG_CoA_Rdtase,superfamily_HMG_CoA_Rdtase_sub-bd,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 52 0 0 50 11 18.0328 SV2C 0 genome.wustl.edu 37 5 75596664 75596664 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 75596664 75596664 T A SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.1747 p.Y583N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 123 0 0 107 20 15.748 BHMT2 0 genome.wustl.edu 37 5 78379171 78379171 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 78379171 78379171 T C SNP BHMT2 ENST00000255192 human ensembl 74_37 +1 known missense c.755 p.F252S 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 55 0 0 35 10 22.2222 JMY 0 genome.wustl.edu 37 5 78596523 78596523 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 78596523 78596523 A G SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.1718 p.Y573C 1.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 47 0 0 46 10 17.8571 RPS23 0 genome.wustl.edu 37 5 81573573 81573573 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 81573573 81573573 C T SNP RPS23 ENST00000296674 human ensembl 74_37 -1 known missense c.103 p.A35T 1.000 pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc - no_errors RPS23 HGNC ENSG00000186468 142 0 0 133 23 14.7436 VCAN 0 genome.wustl.edu 37 5 82833950 82833950 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 82833950 82833950 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.5128 p.D1710N 0.001 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 82 0 0 91 14 13.3333 EDIL3 0 genome.wustl.edu 37 5 83402507 83402507 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 83402507 83402507 G A SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.611 p.A204V 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_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 153 0 0 127 19 13.0137 NR2F1 0 genome.wustl.edu 37 5 92923897 92923897 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 92923897 92923897 C T SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known silent c.738 p.T246 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 65 0 0 49 7 12.5 SPATA9 0 genome.wustl.edu 37 5 95011143 95011143 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 95011143 95011143 C T SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known silent c.351 p.A117 0.000 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 58 0 0 39 8 17.0213 PRDM13 0 genome.wustl.edu 37 6 100062101 100062101 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 100062101 100062101 C T SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known silent c.1590 p.S530 0.926 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 10 0 0 14 3 17.6471 SIM1 0 genome.wustl.edu 37 6 100897523 100897523 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 100897523 100897523 T C SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.401 p.D134G 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 45 0 0 35 4 10.2564 OSTM1 0 genome.wustl.edu 37 6 108395546 108395546 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 108395546 108395546 G A SNP OSTM1 ENST00000193322 human ensembl 74_37 -1 known missense c.310 p.R104C 1.000 pfam_Osteopetrosis-assoc_TM_1 pfam_Osteopetrosis-assoc_TM_1 - no_errors OSTM1 HGNC ENSG00000081087 22 0 0 9 2 18.1818 ARMC2 0 genome.wustl.edu 37 6 109274297 109274297 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 109274297 109274297 G A SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.1658 p.R553H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 31 0 0 24 5 17.2414 DDO 0 genome.wustl.edu 37 6 110736691 110736691 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 110736691 110736691 T C SNP DDO ENST00000368924 human ensembl 74_37 -1 known missense c.59 p.Q20R 0.002 NULL pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 69 0 0 55 12 17.9104 TUBE1 0 genome.wustl.edu 37 6 112397615 112397615 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 112397615 112397615 C A SNP TUBE1 ENST00000368662 human ensembl 74_37 -1 known missense c.546 p.E182D 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 79 0 0 67 10 12.987 LAMA4 0 genome.wustl.edu 37 6 112430768 112430768 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 112430768 112430768 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.5344 p.R1782C 0.971 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 44 0 0 37 10 21.2766 RSPH4A 0 genome.wustl.edu 37 6 116938220 116938220 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 116938220 116938220 C T SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known missense c.434 p.S145L 0.001 NULL pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 138 0 0 99 21 17.5 CLVS2 0 genome.wustl.edu 37 6 123369846 123369846 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 123369846 123369846 G A SNP CLVS2 ENST00000275162 human ensembl 74_37 +1 known missense c.644 p.R215Q 1.000 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_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 136 0 0 77 34 30.6306 PTPRK 0 genome.wustl.edu 37 6 128297831 128297831 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 128297831 128297831 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.3991 p.R1331W 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 42 0 0 36 7 16.2791 TMEM200A 0 genome.wustl.edu 37 6 130762848 130762848 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 130762848 130762848 C T SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known silent c.1281 p.S427 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 100 0 0 81 22 21.3592 EYA4 0 genome.wustl.edu 37 6 133783564 133783564 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 133783564 133783564 G A SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.529 p.V177I 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 88 0 0 71 25 26.0417 KIAA1244 0 genome.wustl.edu 37 6 138645253 138645253 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 138645253 138645253 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.4963 p.E1655K 1.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 27 0 0 18 4 18.1818 HECA 0 genome.wustl.edu 37 6 139488112 139488112 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 139488112 139488112 C T SNP HECA ENST00000367658 human ensembl 74_37 +1 known silent c.963 p.H321 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 65 0 0 45 7 13.4615 HIVEP2 0 genome.wustl.edu 37 6 143093401 143093401 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 143093401 143093401 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.2475 p.C825 0.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 54 0 0 42 10 19.2308 STX11 0 genome.wustl.edu 37 6 144507854 144507854 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 144507854 144507854 C T SNP STX11 ENST00000367568 human ensembl 74_37 +1 known silent c.90 p.H30 0.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 48 0 0 48 7 12.7273 FBXO30 0 genome.wustl.edu 37 6 146127423 146127423 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 146127423 146127423 A G SNP FBXO30 ENST00000237281 human ensembl 74_37 -1 known missense c.119 p.V40A 1.000 superfamily_TRAF-like pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 156 0 0 103 16 13.4454 SHPRH 0 genome.wustl.edu 37 6 146247425 146247425 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 146247425 146247425 T C SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.3236 p.H1079R 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 83 0 0 69 12 14.8148 SHPRH 0 genome.wustl.edu 37 6 146269406 146269406 + Splice_Site SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 146269406 146269406 A G SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known splice_site c.1061+2 e4+2 1.000 - - - no_errors SHPRH HGNC ENSG00000146414 62 0 0 55 10 15.3846 STXBP5 0 genome.wustl.edu 37 6 147704088 147704088 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 147704088 147704088 C T SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.3368 p.A1123V 0.948 pfscan_Synaptobrevin pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 99 0 0 85 18 17.4757 PLEKHG1 0 genome.wustl.edu 37 6 151161754 151161754 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 151161754 151161754 C T SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known silent c.3880 p.L1294 0.025 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 90 0 0 84 20 19.2308 MTHFD1L 0 genome.wustl.edu 37 6 151334921 151334921 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 151334921 151334921 G A SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.2272 p.A758T 1.000 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 46 0 0 24 9 27.2727 ARID1B 0 genome.wustl.edu 37 6 157405929 157405929 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 157405929 157405929 C T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.2132 p.A711V 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 89 0 0 58 10 14.7059 SYNJ2 0 genome.wustl.edu 37 6 158490659 158490659 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 158490659 158490659 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.1894 p.V632I 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 51 0 0 51 16 23.8806 TULP4 0 genome.wustl.edu 37 6 158834180 158834180 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 158834180 158834180 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.336 p.Y112 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 32 0 0 31 6 16.2162 TULP4 0 genome.wustl.edu 37 6 158923412 158923412 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 158923412 158923412 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.2717 p.R906Q 0.998 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 63 0 0 45 14 23.7288 SYTL3 0 genome.wustl.edu 37 6 159178316 159178316 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 159178316 159178316 G A SNP SYTL3 ENST00000297239 human ensembl 74_37 +1 known missense c.1211 p.R404Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL3 HGNC ENSG00000164674 44 0 0 29 8 21.6216 PNLDC1 0 genome.wustl.edu 37 6 160227084 160227084 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 160227084 160227084 A G SNP PNLDC1 ENST00000610273 human ensembl 74_37 +1 known silent c.498 p.E166 0.999 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 45 0 0 35 14 28.5714 MYLIP 0 genome.wustl.edu 37 6 16143371 16143371 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 16143371 16143371 C T SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known silent c.585 p.S195 0.742 pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 103 0 0 84 14 14.2857 AGPAT4 0 genome.wustl.edu 37 6 161560485 161560485 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 161560485 161560485 C T SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known silent c.1011 p.T337 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 111 0 0 63 6 8.69565 AGPAT4 0 genome.wustl.edu 37 6 161587387 161587387 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 161587387 161587387 C T SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.241 p.A81T 0.001 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 43 0 0 32 6 15.7895 GMDS 0 genome.wustl.edu 37 6 1624443 1624443 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 1624443 1624443 G A SNP GMDS ENST00000380815 human ensembl 74_37 -1 known silent c.1080 p.H360 0.378 tigrfam_GDP_Man_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC ENSG00000112699 19 0 0 6 2 25 UNC93A 0 genome.wustl.edu 37 6 167721271 167721271 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 167721271 167721271 G A SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known silent c.981 p.A327 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 67 0 0 46 12 20.6897 MLLT4 0 genome.wustl.edu 37 6 168315892 168315892 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 168315892 168315892 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.2323 p.R775C 0.947 pfscan_Dilute pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 103 0 0 75 16 17.5824 THBS2 0 genome.wustl.edu 37 6 169648753 169648753 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 169648753 169648753 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.368 p.T123M 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,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 73 0 0 22 4 15.3846 KIF13A 0 genome.wustl.edu 37 6 17837152 17837152 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 17837152 17837152 C T SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.1112 p.R371Q 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 235 0 0 215 59 21.5328 E2F3 0 genome.wustl.edu 37 6 20481645 20481645 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 20481645 20481645 C T SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known silent c.714 p.N238 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 182 0 0 126 21 14.2857 CDKAL1 0 genome.wustl.edu 37 6 20758841 20758841 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 20758841 20758841 C T SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known missense c.484 p.R162C 1.000 tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 50 0 0 32 5 13.5135 TDP2 0 genome.wustl.edu 37 6 24653309 24653309 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 24653309 24653309 G A SNP TDP2 ENST00000545995 human ensembl 74_37 -1 known nonsense c.799 p.R267* 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 263 1 0.378788 211 48 18.5328 LRRC16A 0 genome.wustl.edu 37 6 25600624 25600624 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 25600624 25600624 A G SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.3202 p.S1068G 0.996 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 134 0 0 105 17 13.9344 HIST1H2BL 0 genome.wustl.edu 37 6 27775557 27775557 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 27775557 27775557 T C SNP HIST1H2BL ENST00000377401 human ensembl 74_37 -1 known missense c.128 p.Y43C 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BL HGNC ENSG00000185130 232 1 0.429185 199 44 18.107 HIST1H2BN 0 genome.wustl.edu 37 6 27806599 27806599 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 27806599 27806599 G T SNP HIST1H2BN ENST00000396980 human ensembl 74_37 +1 known missense c.160 p.G54C 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BN HGNC ENSG00000233822 288 0 0 223 49 18.0147 OR2B6 0 genome.wustl.edu 37 6 27925691 27925691 + Missense_Mutation SNP G G C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 27925691 27925691 G C SNP OR2B6 ENST00000244623 human ensembl 74_37 +1 known missense c.673 p.V225L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B6 HGNC ENSG00000124657 168 0 0 123 19 13.3803 TRIM15 0 genome.wustl.edu 37 6 30139991 30139991 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 30139991 30139991 C T SNP TRIM15 ENST00000376694 human ensembl 74_37 +1 known silent c.1263 p.Y421 0.124 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_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 TRIM15 HGNC ENSG00000204610 12 0 0 8 3 27.2727 PPP1R10 0 genome.wustl.edu 37 6 30569738 30569738 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 30569738 30569738 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known silent c.2688 p.H896 0.704 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 12 0 0 15 4 21.0526 C6orf136 0 genome.wustl.edu 37 6 30617500 30617500 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 30617500 30617500 A G SNP C6orf136 ENST00000293604 human ensembl 74_37 +1 known missense c.781 p.S261G 0.266 NULL pfam_DUF2358 - no_errors C6orf136 HGNC ENSG00000204564 124 0 0 119 16 11.8519 LTA 0 genome.wustl.edu 37 6 31541102 31541102 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 31541102 31541102 G A SNP LTA ENST00000418386 human ensembl 74_37 +1 known missense c.250 p.D84N 0.176 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 47 0 0 37 12 24.4898 PRRC2A 0 genome.wustl.edu 37 6 31593069 31593069 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 31593069 31593069 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.585 p.P195 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 47 0 0 46 16 25.8065 C6orf47 0 genome.wustl.edu 37 6 31627518 31627518 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 31627518 31627518 A G SNP C6orf47 ENST00000375911 human ensembl 74_37 -1 known silent c.207 p.A69 0.001 NULL NULL - no_errors C6orf47 HGNC ENSG00000204439 45 0 0 46 12 20.6897 VARS 0 genome.wustl.edu 37 6 31760564 31760564 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 31760564 31760564 A T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.631 p.S211T 0.948 superfamily_Glutathione-S-Trfase_C-like pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 63 0 0 44 7 13.7255 SLC44A4 0 genome.wustl.edu 37 6 31838664 31838664 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 31838664 31838664 C T SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.862 p.A288T 0.907 NULL pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 35 0 0 23 5 17.8571 EHMT2 0 genome.wustl.edu 37 6 31852688 31852688 + Splice_Site SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 31852688 31852688 C T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known splice_site c.2619+1 e18+1 1.000 - - - no_errors EHMT2 HGNC ENSG00000204371 33 0 0 20 7 25.9259 STK19 0 genome.wustl.edu 37 6 31939920 31939920 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 31939920 31939920 C T SNP STK19 ENST00000375333 human ensembl 74_37 +1 known silent c.147 p.V49 0.000 NULL pfam_Ser/Thr_kinase_19 - no_errors STK19 HGNC ENSG00000204344 23 0 0 28 8 22.2222 TNXB 0 genome.wustl.edu 37 6 32039796 32039796 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32039796 32039796 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.4961 p.R1654H 0.028 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 27 0 0 26 6 18.75 TNXB 0 genome.wustl.edu 37 6 32039876 32039876 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32039876 32039876 C A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.4881 p.Q1627H 0.449 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 24 0 0 18 5 21.7391 TNXB 0 genome.wustl.edu 37 6 32065871 32065871 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32065871 32065871 T C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.105 p.P35 0.149 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 19 0 0 18 6 25 PRRT1 0 genome.wustl.edu 37 6 32117080 32117080 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32117080 32117080 G A SNP PRRT1 ENST00000211413 human ensembl 74_37 -1 known silent c.840 p.I280 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 14 0 0 10 3 23.0769 PPT2 0 genome.wustl.edu 37 6 32123717 32123717 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32123717 32123717 C A SNP PPT2 ENST00000361568 human ensembl 74_37 +1 known missense c.521 p.P174H 0.959 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT2 HGNC ENSG00000221988 67 0 0 59 18 23.3766 EGFL8 0 genome.wustl.edu 37 6 32135028 32135028 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32135028 32135028 G A SNP EGFL8 ENST00000333845 human ensembl 74_37 +1 known missense c.595 p.V199M 0.997 NULL pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 29 0 0 21 7 25 GPSM3 0 genome.wustl.edu 37 6 32159535 32159535 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32159535 32159535 C T SNP GPSM3 ENST00000375040 human ensembl 74_37 -1 known missense c.296 p.R99H 0.975 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 46 0 0 23 11 32.3529 NOTCH4 0 genome.wustl.edu 37 6 32168997 32168997 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32168997 32168997 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.4036 p.R1346W 1.000 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 51 0 0 21 11 34.375 PSMB8 0 genome.wustl.edu 37 6 32809478 32809478 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32809478 32809478 G T SNP PSMB8 ENST00000374882 human ensembl 74_37 -1 known missense c.572 p.T191N 0.997 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 156 0 0 127 22 14.7651 TAPSAR1 0 genome.wustl.edu 37 6 32813337 32813337 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32813337 32813337 C T SNP TAPSAR1 ENST00000412095 human ensembl 74_37 +1 known rna NULL NULL 0.036 - - - no_errors TAPSAR1 HGNC ENSG00000204261 26 0 0 37 3 7.5 ITPR3 0 genome.wustl.edu 37 6 33638235 33638235 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 33638235 33638235 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.2323 p.A775T 1.000 prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 94 0 0 73 19 20.6522 UHRF1BP1 0 genome.wustl.edu 37 6 34826613 34826613 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 34826613 34826613 G A SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.2480 p.R827H 0.002 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 222 0 0 173 45 20.6422 SCUBE3 0 genome.wustl.edu 37 6 35200656 35200656 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 35200656 35200656 G A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.499 p.G167S 1.000 smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 129 0 0 95 29 23.3871 DNAH8 0 genome.wustl.edu 37 6 38828371 38828371 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 38828371 38828371 A G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.5446 p.T1816A 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 42 0 0 40 5 11.1111 TREML1 0 genome.wustl.edu 37 6 41121543 41121543 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 41121543 41121543 C T SNP TREML1 ENST00000426005 human ensembl 74_37 -1 known missense c.329 p.R110K 0.000 NULL pfam_Ig_V-set - no_errors TREML1 HGNC ENSG00000161911 56 0 0 48 12 20 FOXP4 0 genome.wustl.edu 37 6 41558999 41558999 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 41558999 41558999 A G SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known missense c.1475 p.E492G 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 17 0 0 10 6 37.5 GUCA1A 0 genome.wustl.edu 37 6 42146094 42146094 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 42146094 42146094 G A SNP GUCA1A ENST00000053469 human ensembl 74_37 +1 known missense c.278 p.R93H 1.000 pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1A HGNC ENSG00000048545 133 0 0 80 26 24.5283 CUL9 0 genome.wustl.edu 37 6 43167106 43167106 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 43167106 43167106 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.3153 p.S1051 0.979 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 112 0 0 87 20 18.6916 CUL9 0 genome.wustl.edu 37 6 43167827 43167827 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 43167827 43167827 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.3317 p.T1106I 0.002 superfamily_Galactose-bd-like 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 51 0 0 59 10 14.4928 TTBK1 0 genome.wustl.edu 37 6 43230531 43230531 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 43230531 43230531 C T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.1429 p.R477W 0.863 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 TTBK1 HGNC ENSG00000146216 15 0 0 9 3 25 ZNF318 0 genome.wustl.edu 37 6 43322422 43322422 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 43322422 43322422 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.2650 p.R884C 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 99 0 0 71 24 25.2632 HSP90AB1 0 genome.wustl.edu 37 6 44219206 44219206 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 44219206 44219206 G A SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.1175 p.R392Q 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 30 0 0 33 5 13.1579 CDC5L 0 genome.wustl.edu 37 6 44376250 44376250 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 44376250 44376250 G A SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known missense c.973 p.E325K 1.000 pfam_DUF3351 pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 93 0 0 95 18 15.9292 CDYL 0 genome.wustl.edu 37 6 4935952 4935952 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 4935952 4935952 A G SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.1057 p.T353A 1.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 110 0 0 83 24 22.4299 DST 0 genome.wustl.edu 37 6 56382029 56382029 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 56382029 56382029 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.18231 p.T6077 0.970 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 157 0 0 148 26 14.9425 KIAA1586 0 genome.wustl.edu 37 6 56917834 56917834 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 56917834 56917834 T C SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known silent c.537 p.H179 0.213 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 98 0 0 124 12 8.82353 F13A1 0 genome.wustl.edu 37 6 6197549 6197549 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 6197549 6197549 A G SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1123 p.C375R 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 47 0 0 31 7 18.4211 BAI3 0 genome.wustl.edu 37 6 70042837 70042837 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 70042837 70042837 T G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3125 p.L1042W 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 40 0 0 44 7 13.7255 OGFRL1 0 genome.wustl.edu 37 6 72011673 72011673 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 72011673 72011673 A G SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known missense c.1277 p.N426S 0.000 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 185 0 0 168 33 16.4179 RIMS1 0 genome.wustl.edu 37 6 73110441 73110441 + RNA SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 73110441 73110441 A G SNP RIMS1 ENST00000431478 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RIMS1 HGNC ENSG00000079841 37 0 0 52 7 11.8644 KCNQ5 0 genome.wustl.edu 37 6 73787159 73787159 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 73787159 73787159 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.731 p.R244H 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 52 0 0 45 10 18.1818 FILIP1 0 genome.wustl.edu 37 6 76022149 76022149 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 76022149 76022149 C T SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known silent c.3399 p.P1133 0.003 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 138 0 0 100 25 20 KIAA1009 0 genome.wustl.edu 37 6 84872863 84872863 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 84872863 84872863 C A SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known missense c.2512 p.G838C 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 88 0 0 100 17 14.5299 AKIRIN2 0 genome.wustl.edu 37 6 88391397 88391397 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 88391397 88391397 G A SNP AKIRIN2 ENST00000257787 human ensembl 74_37 -1 known missense c.320 p.P107L 1.000 NULL NULL - no_errors AKIRIN2 HGNC ENSG00000135334 58 0 0 62 10 13.8889 CNR1 0 genome.wustl.edu 37 6 88854349 88854349 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 88854349 88854349 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.645 p.Y215 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 32 0 0 43 10 18.8679 CASP8AP2 0 genome.wustl.edu 37 6 90578735 90578735 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 90578735 90578735 C T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.217 - - - no_errors CASP8AP2 HGNC ENSG00000118412 34 0 0 33 6 15.3846 BACH2 0 genome.wustl.edu 37 6 90660960 90660960 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 90660960 90660960 T C SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.865 p.I289V 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 66 0 0 59 9 13.2353 MAP3K7 0 genome.wustl.edu 37 6 91257878 91257878 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 91257878 91257878 G A SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.968 p.A323V 0.978 pirsf_MAPKKK7 pirsf_MAPKKK7,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 MAP3K7 HGNC ENSG00000135341 80 0 0 77 8 9.41176 AGFG2 0 genome.wustl.edu 37 7 100151089 100151089 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 100151089 100151089 C T SNP AGFG2 ENST00000300176 human ensembl 74_37 +1 known missense c.551 p.P184L 0.986 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 83 0 0 54 9 14.2857 ACTL6B 0 genome.wustl.edu 37 7 100247736 100247736 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 100247736 100247736 T A SNP ACTL6B ENST00000160382 human ensembl 74_37 -1 known missense c.392 p.E131V 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6B HGNC ENSG00000077080 47 0 0 33 9 21.4286 TRIP6 0 genome.wustl.edu 37 7 100469244 100469244 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 100469244 100469244 C A SNP TRIP6 ENST00000200457 human ensembl 74_37 +1 known missense c.1079 p.P360H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 59 0 0 39 10 20.4082 MUC17 0 genome.wustl.edu 37 7 100677874 100677874 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 100677874 100677874 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.3177 p.T1059 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 420 1 0.23753 335 87 20.6161 CUX1 0 genome.wustl.edu 37 7 101459368 101459368 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 101459368 101459368 C T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known silent c.58 p.L20 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 48 0 0 42 6 12.5 ORAI2 0 genome.wustl.edu 37 7 102086989 102086989 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 102086989 102086989 G A SNP ORAI2 ENST00000356387 human ensembl 74_37 +1 known silent c.255 p.T85 0.992 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI2 HGNC ENSG00000160991 38 0 0 14 4 22.2222 DPY19L2P2 0 genome.wustl.edu 37 7 102912302 102912302 + RNA SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 102912302 102912302 A G SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 42 0 0 44 5 10.2041 PSMC2 0 genome.wustl.edu 37 7 103002424 103002424 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 103002424 103002424 C T SNP PSMC2 ENST00000292644 human ensembl 74_37 +1 known missense c.311 p.A104V 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 85 0 0 66 18 21.4286 RELN 0 genome.wustl.edu 37 7 103138557 103138557 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 103138557 103138557 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.8810 p.A2937V 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 117 0 0 110 20 15.3846 COG5 0 genome.wustl.edu 37 7 106851578 106851578 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 106851578 106851578 G A SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.2354 p.T785M 0.994 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 81 0 0 60 14 18.9189 CFTR 0 genome.wustl.edu 37 7 117232480 117232480 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 117232480 117232480 C T SNP CFTR ENST00000003084 human ensembl 74_37 +1 known silent c.2259 p.S753 0.001 tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 31 0 0 34 9 20.9302 CPED1 0 genome.wustl.edu 37 7 120629693 120629693 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 120629693 120629693 G A SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.18 p.V6 0.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 107 0 0 59 11 15.7143 ASB15 0 genome.wustl.edu 37 7 123267253 123267253 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 123267253 123267253 C T SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known silent c.787 p.L263 1.000 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 ASB15 HGNC ENSG00000146809 52 0 0 32 10 23.8095 FLNC 0 genome.wustl.edu 37 7 128484899 128484899 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 128484899 128484899 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.3380 p.G1127D 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 86 0 0 50 19 27.5362 AHCYL2 0 genome.wustl.edu 37 7 129019487 129019487 + Missense_Mutation SNP G G C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 129019487 129019487 G C SNP AHCYL2 ENST00000325006 human ensembl 74_37 +1 known missense c.372 p.Q124H 0.980 NULL pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 48 0 0 32 6 15.7895 STRIP2 0 genome.wustl.edu 37 7 129096401 129096401 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 129096401 129096401 C T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.956 p.P319L 1.000 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 59 0 0 47 15 24.1935 TSGA13 0 genome.wustl.edu 37 7 130364019 130364019 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 130364019 130364019 A G SNP TSGA13 ENST00000356588 human ensembl 74_37 -1 known missense c.361 p.S121P 0.484 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 102 0 0 91 9 9 PLXNA4 0 genome.wustl.edu 37 7 131866287 131866287 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 131866287 131866287 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.3345 p.P1115 0.007 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 80 0 0 45 14 23.7288 LRGUK 0 genome.wustl.edu 37 7 133906546 133906546 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 133906546 133906546 A G SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.1859 p.H620R 0.000 NULL pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 86 0 0 77 11 12.5 AKR1B1 0 genome.wustl.edu 37 7 134135578 134135578 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 134135578 134135578 T C SNP AKR1B1 ENST00000285930 human ensembl 74_37 -1 known missense c.311 p.Y104C 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B1 HGNC ENSG00000085662 53 0 0 41 9 18 DGKI 0 genome.wustl.edu 37 7 137172408 137172408 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 137172408 137172408 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.2330 p.R777H 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 256 1 0.389105 200 41 17.0124 ATP6V0A4 0 genome.wustl.edu 37 7 138418958 138418958 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 138418958 138418958 C T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known silent c.1614 p.S538 0.956 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 95 0 0 63 16 20.2532 TTC26 0 genome.wustl.edu 37 7 138865925 138865925 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 138865925 138865925 T A SNP TTC26 ENST00000464848 human ensembl 74_37 +1 known missense c.1400 p.I467N 1.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC26 HGNC ENSG00000105948 76 0 0 59 23 28.0488 BRAF 0 genome.wustl.edu 37 7 140453128 140453128 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 140453128 140453128 G A SNP BRAF ENST00000288602 human ensembl 74_37 -1 known nonsense c.1807 p.R603* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 79 0 0 64 21 24.7059 ENSG00000257743 0 genome.wustl.edu 37 7 141843582 141843582 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 141843582 141843582 C T SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative missense c.1331 p.P444L 0.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 10 0 0 1 2 66.6667 OR9A2 0 genome.wustl.edu 37 7 142723873 142723873 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 142723873 142723873 A G SNP OR9A2 ENST00000350513 human ensembl 74_37 -1 known missense c.347 p.V116A 0.986 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 OR9A2 HGNC ENSG00000179468 85 0 0 59 11 15.7143 TPK1 0 genome.wustl.edu 37 7 144320278 144320278 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 144320278 144320278 A G SNP TPK1 ENST00000360057 human ensembl 74_37 -1 known missense c.335 p.I112T 1.000 pfam_TPK_catalytic,superfamily_TPK_catalytic,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase - no_errors TPK1 HGNC ENSG00000196511 148 0 0 145 37 20.3297 ZNF398 0 genome.wustl.edu 37 7 148876693 148876693 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 148876693 148876693 C T SNP ZNF398 ENST00000540950 human ensembl 74_37 +1 known missense c.1744 p.R582C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 69 0 0 38 8 17.3913 ZNF777 0 genome.wustl.edu 37 7 149129387 149129387 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 149129387 149129387 G A SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.1976 p.T659M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 121 0 0 82 19 18.8119 ZNF777 0 genome.wustl.edu 37 7 149133705 149133705 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 149133705 149133705 C T SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.1300 p.E434K 0.986 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 48 0 0 35 4 10.2564 SSPO 0 genome.wustl.edu 37 7 149485990 149485990 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 149485990 149485990 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.648 - - - no_errors SSPO HGNC ENSG00000197558 26 0 0 15 7 31.8182 SSPO 0 genome.wustl.edu 37 7 149508064 149508064 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 149508064 149508064 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.485 - - - no_errors SSPO HGNC ENSG00000197558 21 0 0 15 7 31.8182 ZNF862 0 genome.wustl.edu 37 7 149547397 149547397 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 149547397 149547397 C T SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.1087 p.R363W 0.999 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 29 0 0 13 7 35 CHPF2 0 genome.wustl.edu 37 7 150935265 150935265 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 150935265 150935265 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.1817 p.R606H 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 52 0 0 44 4 8.33333 AGMO 0 genome.wustl.edu 37 7 15458233 15458233 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 15458233 15458233 C T SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.559 p.A187T 1.000 pfam_Fatty_acid_hydroxylase pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 54 0 0 38 4 9.52381 HTR5A 0 genome.wustl.edu 37 7 154862889 154862889 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 154862889 154862889 A G SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known missense c.280 p.M94V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 20 0 0 15 4 21.0526 PTPRN2 0 genome.wustl.edu 37 7 157959878 157959878 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 157959878 157959878 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.724 p.R242W 0.001 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 25 0 0 28 5 15.1515 WDR60 0 genome.wustl.edu 37 7 158734693 158734693 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 158734693 158734693 G A SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known silent c.2856 p.T952 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 44 0 0 34 6 15 MPP6 0 genome.wustl.edu 37 7 24681374 24681374 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 24681374 24681374 A G SNP MPP6 ENST00000222644 human ensembl 74_37 +1 known missense c.157 p.S53G 1.000 pfam_L27_C,smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP6 HGNC ENSG00000105926 87 0 0 83 7 7.77778 AMZ1 0 genome.wustl.edu 37 7 2740094 2740094 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 2740094 2740094 G A SNP AMZ1 ENST00000312371 human ensembl 74_37 +1 known silent c.9 p.Q3 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 30 0 0 23 9 28.125 CCDC129 0 genome.wustl.edu 37 7 31592688 31592688 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 31592688 31592688 A G SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.128 p.E43G 0.237 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 49 0 0 34 9 20.9302 PDE1C 0 genome.wustl.edu 37 7 32109997 32109997 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 32109997 32109997 C T SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.9 p.S3 0.603 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 84 0 0 59 21 26.25 AVL9 0 genome.wustl.edu 37 7 33078502 33078502 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 33078502 33078502 C T SNP AVL9 ENST00000404479 human ensembl 74_37 +1 known missense c.1378 p.R460C 0.008 NULL pfam_ABL9/DENND6_dom,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 9 0 0 7 4 36.3636 BBS9 0 genome.wustl.edu 37 7 33427709 33427709 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 33427709 33427709 G A SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.2068 p.A690T 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 180 0 0 165 20 10.8108 ELMO1 0 genome.wustl.edu 37 7 37052934 37052934 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 37052934 37052934 T C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known silent c.1407 p.E469 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 77 0 0 49 12 19.6721 CDK13 0 genome.wustl.edu 37 7 40132832 40132832 + Silent SNP G G C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 40132832 40132832 G C SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known silent c.3684 p.V1228 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 56 0 0 50 11 18.0328 GLI3 0 genome.wustl.edu 37 7 42005251 42005251 + Silent SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 42005251 42005251 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3420 p.G1140 0.620 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 70 0 0 44 9 16.9811 DDX56 0 genome.wustl.edu 37 7 44612618 44612618 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 44612618 44612618 C T SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known missense c.254 p.G85D 0.483 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX56 HGNC ENSG00000136271 147 0 0 107 17 13.7097 OGDH 0 genome.wustl.edu 37 7 44713473 44713473 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 44713473 44713473 C T SNP OGDH ENST00000222673 human ensembl 74_37 +1 known missense c.721 p.P241S 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 126 0 0 86 20 18.8679 TNS3 0 genome.wustl.edu 37 7 47385887 47385887 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 47385887 47385887 A T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.2349 p.D783E 0.000 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_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 38 0 0 36 3 7.69231 IKZF1 0 genome.wustl.edu 37 7 50467674 50467674 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 50467674 50467674 C T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known silent c.909 p.N303 0.646 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 32 0 0 27 10 27.027 COBL 0 genome.wustl.edu 37 7 51096609 51096609 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 51096609 51096609 G A SNP COBL ENST00000395542 human ensembl 74_37 -1 known silent c.2430 p.T810 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 62 0 0 49 7 12.5 ZNF680 0 genome.wustl.edu 37 7 63981628 63981628 + Missense_Mutation SNP A A T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 63981628 63981628 A T SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known missense c.1504 p.S502T 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 ZNF680 HGNC ENSG00000173041 75 0 0 76 4 5 VKORC1L1 0 genome.wustl.edu 37 7 65419074 65419074 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 65419074 65419074 C T SNP VKORC1L1 ENST00000434382 human ensembl 74_37 +1 novel missense c.208 p.R70C 0.915 NULL pfam_VKOR - no_errors VKORC1L1 HGNC ENSG00000196715 94 0 0 77 11 12.5 ZDHHC4 0 genome.wustl.edu 37 7 6620233 6620233 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 6620233 6620233 T C SNP ZDHHC4 ENST00000335965 human ensembl 74_37 +1 known missense c.41 p.V14A 0.029 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC4 HGNC ENSG00000136247 167 0 0 133 21 13.6364 ZNF12 0 genome.wustl.edu 37 7 6731401 6731401 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 6731401 6731401 G A SNP ZNF12 ENST00000405858 human ensembl 74_37 -1 known missense c.1172 p.S391L 0.557 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 ZNF12 HGNC ENSG00000164631 69 0 0 51 13 20.3125 WBSCR17 0 genome.wustl.edu 37 7 71036282 71036282 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 71036282 71036282 G T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.975 p.M325I 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 120 0 0 79 15 15.9574 TBL2 0 genome.wustl.edu 37 7 72988315 72988315 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 72988315 72988315 G A SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known silent c.399 p.N133 0.680 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 52 0 0 40 5 11.1111 CLIP2 0 genome.wustl.edu 37 7 73778608 73778608 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 73778608 73778608 G A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.1343 p.R448H 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 25 0 0 13 6 31.5789 POM121C 0 genome.wustl.edu 37 7 75053846 75053846 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 75053846 75053846 T C SNP POM121C ENST00000257665 human ensembl 74_37 -1 known silent c.1560 p.S520 0.047 NULL NULL - no_errors POM121C HGNC ENSG00000135213 161 0 0 120 25 17.2414 YWHAG 0 genome.wustl.edu 37 7 75959484 75959484 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 75959484 75959484 C T SNP YWHAG ENST00000307630 human ensembl 74_37 -1 known missense c.154 p.V52I 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAG HGNC ENSG00000170027 102 0 0 63 8 11.2676 ZP3 0 genome.wustl.edu 37 7 76062907 76062907 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 76062907 76062907 C T SNP ZP3 ENST00000394857 human ensembl 74_37 +1 known missense c.656 p.A219V 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP3 HGNC ENSG00000188372 95 0 0 60 15 20 CCDC146 0 genome.wustl.edu 37 7 76891552 76891552 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 76891552 76891552 G T SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known missense c.1101 p.M367I 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 82 0 0 78 11 12.3596 GNAI1 0 genome.wustl.edu 37 7 79818534 79818534 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 79818534 79818534 A G SNP GNAI1 ENST00000351004 human ensembl 74_37 +1 known missense c.290 p.D97G 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI1 HGNC ENSG00000127955 62 0 0 51 4 7.27273 PCLO 0 genome.wustl.edu 37 7 82579728 82579728 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 82579728 82579728 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.10176 p.S3392 0.997 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 57 0 0 58 5 7.93651 PCLO 0 genome.wustl.edu 37 7 82584025 82584025 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 82584025 82584025 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6244 p.P2082T 0.990 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 69 0 0 72 14 16.2791 SEMA3A 0 genome.wustl.edu 37 7 83764138 83764138 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 83764138 83764138 T A SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.242 p.D81V 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 71 0 0 68 14 17.0732 ABCB1 0 genome.wustl.edu 37 7 87196110 87196110 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 87196110 87196110 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.521 p.R174Q 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 75 0 0 31 18 36.7347 ZNF804B 0 genome.wustl.edu 37 7 88964957 88964957 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 88964957 88964957 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known silent c.2661 p.R887 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 126 0 0 121 11 8.33333 STEAP1 0 genome.wustl.edu 37 7 89790129 89790129 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 89790129 89790129 C T SNP STEAP1 ENST00000297205 human ensembl 74_37 +1 known missense c.95 p.T32M 0.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1 HGNC ENSG00000164647 135 0 0 123 11 8.20896 PEX1 0 genome.wustl.edu 37 7 92146932 92146932 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 92146932 92146932 G A SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known silent c.897 p.N299 0.000 NULL 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 56 0 0 37 14 27.451 RBM48 0 genome.wustl.edu 37 7 92163897 92163897 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 92163897 92163897 T C SNP RBM48 ENST00000265732 human ensembl 74_37 +1 known silent c.630 p.C210 0.000 NULL NULL - no_errors RBM48 HGNC ENSG00000127993 66 0 0 72 8 10 HEPACAM2 0 genome.wustl.edu 37 7 92848540 92848540 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 92848540 92848540 G A SNP HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known missense c.304 p.P102S 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 70 0 0 63 15 19.2308 CCDC132 0 genome.wustl.edu 37 7 92882054 92882054 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 92882054 92882054 T C SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known missense c.191 p.V64A 0.187 pfam_Vacuolar_sorting-assoc_54 pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 69 0 0 56 11 16.4179 ADAP1 0 genome.wustl.edu 37 7 939112 939112 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 939112 939112 G A SNP ADAP1 ENST00000539900 human ensembl 74_37 -1 known missense c.844 p.R282W 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ADAP1 HGNC ENSG00000105963 30 0 0 14 5 26.3158 CASD1 0 genome.wustl.edu 37 7 94184921 94184921 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 94184921 94184921 G A SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known missense c.2245 p.A749T 1.000 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 84 0 0 76 9 10.5882 SGCE 0 genome.wustl.edu 37 7 94252690 94252690 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 94252690 94252690 C T SNP SGCE ENST00000445866 human ensembl 74_37 -1 known missense c.410 p.R137H 1.000 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 31 0 0 29 6 17.1429 LMTK2 0 genome.wustl.edu 37 7 97823050 97823050 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 97823050 97823050 G A SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.3273 p.T1091 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 37 0 0 37 9 19.5652 TECPR1 0 genome.wustl.edu 37 7 97872868 97872868 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 97872868 97872868 G A SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.568 p.P190S 1.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 31 0 0 31 10 24.3902 ZCWPW1 0 genome.wustl.edu 37 7 99998688 99998688 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 99998688 99998688 C T SNP ZCWPW1 ENST00000398027 human ensembl 74_37 -1 known silent c.1896 p.Q632 0.000 NULL pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 53 0 0 37 6 13.9535 VPS13B 0 genome.wustl.edu 37 8 100568810 100568810 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 100568810 100568810 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.4953 p.V1651 0.102 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 71 0 0 63 10 13.6986 RNF19A 0 genome.wustl.edu 37 8 101300355 101300355 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 101300355 101300355 C T SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known silent c.48 p.L16 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 42 0 0 49 22 30.9859 SOX7 0 genome.wustl.edu 37 8 10692279 10692279 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 10692279 10692279 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.26 p.R9Q 1.000 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 51 0 0 44 4 8.33333 PKHD1L1 0 genome.wustl.edu 37 8 110510979 110510979 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 110510979 110510979 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.10807 p.S3603G 0.996 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 52 0 0 46 4 8 CSMD3 0 genome.wustl.edu 37 8 113841970 113841970 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 113841970 113841970 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1804 p.T602A 0.994 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 74 0 0 73 8 9.87654 TRPS1 0 genome.wustl.edu 37 8 116427198 116427198 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 116427198 116427198 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known nonsense c.2938 p.Q980* 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 134 0 0 126 23 15.4362 TRPS1 0 genome.wustl.edu 37 8 116599384 116599384 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 116599384 116599384 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.2544 p.A848 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 79 0 0 87 18 17.1429 EIF3H 0 genome.wustl.edu 37 8 117658816 117658816 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 117658816 117658816 A G SNP EIF3H ENST00000521861 human ensembl 74_37 -1 known silent c.855 p.N285 0.189 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3H HGNC ENSG00000147677 192 0 0 126 43 25.4438 SLC30A8 0 genome.wustl.edu 37 8 118170036 118170036 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 118170036 118170036 G A SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known silent c.525 p.A175 0.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 100 0 0 92 19 17.1171 SLC30A8 0 genome.wustl.edu 37 8 118184853 118184853 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 118184853 118184853 C T SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.1043 p.T348I 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 145 0 0 107 48 30.9677 EXT1 0 genome.wustl.edu 37 8 118817060 118817060 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 118817060 118817060 A G SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known silent c.1956 p.C652 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 100 0 0 78 34 30.3571 DEPTOR 0 genome.wustl.edu 37 8 120886177 120886177 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 120886177 120886177 G A SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known missense c.91 p.A31T 1.000 NULL pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 46 0 0 30 4 11.7647 COL14A1 0 genome.wustl.edu 37 8 121256225 121256225 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 121256225 121256225 C T SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.2457 p.S819 0.958 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 121 0 0 129 26 16.7742 HAS2 0 genome.wustl.edu 37 8 122627011 122627011 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 122627011 122627011 G A SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known nonsense c.997 p.R333* 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 116 0 0 131 17 11.4865 ATAD2 0 genome.wustl.edu 37 8 124382182 124382182 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 124382182 124382182 A G SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.810 p.D270 0.909 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 27 0 0 24 6 20 KLHL38 0 genome.wustl.edu 37 8 124663889 124663889 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 124663889 124663889 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.1278 p.V426 0.044 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 76 0 0 79 11 12.2222 FAM91A1 0 genome.wustl.edu 37 8 124824810 124824810 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 124824810 124824810 C A SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.2383 p.L795I 0.998 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 84 0 0 102 29 22.1374 DLC1 0 genome.wustl.edu 37 8 12957788 12957788 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 12957788 12957788 C T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.2058 p.A686 0.013 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 101 0 0 97 36 27.0677 TG 0 genome.wustl.edu 37 8 133899619 133899619 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 133899619 133899619 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.2002 p.R668C 0.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 53 0 0 48 8 14.2857 ZFAT 0 genome.wustl.edu 37 8 135649947 135649947 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 135649947 135649947 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.205 p.V69I 0.807 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 96 0 0 61 24 28.2353 KHDRBS3 0 genome.wustl.edu 37 8 136594174 136594174 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 136594174 136594174 C T SNP KHDRBS3 ENST00000355849 human ensembl 74_37 +1 known missense c.665 p.T222M 0.977 NULL smart_KH_dom - no_errors KHDRBS3 HGNC ENSG00000131773 54 0 0 59 14 19.1781 AGO2 0 genome.wustl.edu 37 8 141567204 141567204 + Missense_Mutation SNP G G C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 141567204 141567204 G C SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1010 p.T337S 1.000 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_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 104 0 0 86 32 27.1186 DENND3 0 genome.wustl.edu 37 8 142186732 142186732 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 142186732 142186732 C T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.2338 p.P780S 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 73 0 0 55 12 17.9104 LRRC14 0 genome.wustl.edu 37 8 145745377 145745377 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 145745377 145745377 C A SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.268 p.L90M 1.000 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 38 0 0 35 6 14.6341 ARHGAP39 0 genome.wustl.edu 37 8 145771022 145771022 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 145771022 145771022 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.2132 p.R711Q 1.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 33 0 0 31 5 13.8889 XPO7 0 genome.wustl.edu 37 8 21848376 21848376 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 21848376 21848376 C T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.2014 p.R672W 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 235 0 0 237 47 16.5493 XPO7 0 genome.wustl.edu 37 8 21857142 21857142 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 21857142 21857142 C T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known silent c.2766 p.I922 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 102 0 0 73 36 33.0275 DMTN 0 genome.wustl.edu 37 8 21929897 21929897 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 21929897 21929897 A G SNP DMTN ENST00000265800 human ensembl 74_37 +1 known missense c.665 p.E222G 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 26 0 0 25 3 10.7143 REEP4 0 genome.wustl.edu 37 8 21996976 21996976 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 21996976 21996976 G A SNP REEP4 ENST00000306306 human ensembl 74_37 -1 known missense c.370 p.R124W 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 28 0 0 21 4 16 PIWIL2 0 genome.wustl.edu 37 8 22147407 22147407 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 22147407 22147407 A G SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.1034 p.D345G 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 49 0 0 51 15 22.7273 PIWIL2 0 genome.wustl.edu 37 8 22210726 22210726 + Splice_Site SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 22210726 22210726 G A SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known splice_site c.2657+1 e20+1 1.000 - - - no_errors PIWIL2 HGNC ENSG00000197181 96 0 0 77 33 30 CCAR2 0 genome.wustl.edu 37 8 22463333 22463333 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 22463333 22463333 G A SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.47 p.R16H 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 62 0 0 73 12 14.1176 RHOBTB2 0 genome.wustl.edu 37 8 22864897 22864897 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 22864897 22864897 C T SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1139 p.P380L 0.893 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 62 0 0 60 30 33.3333 NEFL 0 genome.wustl.edu 37 8 24813156 24813156 + RNA SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 24813156 24813156 C T SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 30 0 0 21 11 34.375 DPYSL2 0 genome.wustl.edu 37 8 26501484 26501484 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 26501484 26501484 G A SNP DPYSL2 ENST00000311151 human ensembl 74_37 +1 known silent c.987 p.T329 0.973 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 30 0 0 21 8 27.5862 DPYSL2 0 genome.wustl.edu 37 8 26501587 26501587 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 26501587 26501587 G A SNP DPYSL2 ENST00000311151 human ensembl 74_37 +1 known missense c.1090 p.V364I 0.570 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 44 0 0 42 8 16 PTK2B 0 genome.wustl.edu 37 8 27303434 27303434 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 27303434 27303434 C T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.2338 p.R780W 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 64 0 0 68 13 16.0494 KIF13B 0 genome.wustl.edu 37 8 29005050 29005050 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 29005050 29005050 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.1883 p.R628H 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 40 0 0 40 4 9.09091 CSMD1 0 genome.wustl.edu 37 8 3008925 3008925 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 3008925 3008925 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.6028 p.G2010S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 33 0 0 43 8 15.6863 ADAM32 0 genome.wustl.edu 37 8 39068795 39068795 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 39068795 39068795 C T SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known silent c.1185 p.G395 0.748 pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 21 0 0 15 8 34.7826 ADAM18 0 genome.wustl.edu 37 8 39495209 39495209 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 39495209 39495209 G T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.814 p.A272S 0.007 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 79 0 0 58 19 24.6753 ANK1 0 genome.wustl.edu 37 8 41550195 41550195 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 41550195 41550195 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.3829 p.V1277M 0.994 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 245 0 0 203 40 16.4609 AP3M2 0 genome.wustl.edu 37 8 42023047 42023047 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 42023047 42023047 C T SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.772 p.R258C 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 130 0 0 86 40 31.746 PRKDC 0 genome.wustl.edu 37 8 48690324 48690324 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 48690324 48690324 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.11962 p.R3988W 0.987 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 102 0 0 80 26 24.5283 EFCAB1 0 genome.wustl.edu 37 8 49647682 49647682 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 49647682 49647682 G A SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known missense c.29 p.T10M 0.994 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 110 0 0 93 10 9.70874 PXDNL 0 genome.wustl.edu 37 8 52321554 52321554 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 52321554 52321554 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2630 p.T877M 0.964 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 44 0 0 36 7 16.2791 PXDNL 0 genome.wustl.edu 37 8 52321594 52321594 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 52321594 52321594 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2590 p.R864C 0.794 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 36 0 0 25 14 35.8974 NPBWR1 0 genome.wustl.edu 37 8 53853442 53853442 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 53853442 53853442 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known silent c.975 p.R325 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 27 0 0 18 10 35.7143 RP1 0 genome.wustl.edu 37 8 55533986 55533986 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 55533986 55533986 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.460 p.R154W 0.938 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 65 0 0 52 13 20 CHD7 0 genome.wustl.edu 37 8 61765392 61765392 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 61765392 61765392 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.6108 p.P2036 0.001 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 136 0 0 141 23 14.0244 MCPH1 0 genome.wustl.edu 37 8 6302423 6302423 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 6302423 6302423 C T SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known silent c.1180 p.L394 0.001 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 67 0 0 38 19 33.3333 ADHFE1 0 genome.wustl.edu 37 8 67369347 67369347 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 67369347 67369347 A G SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known missense c.1108 p.T370A 0.985 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 194 0 0 179 18 9.13706 MCMDC2 0 genome.wustl.edu 37 8 67789611 67789611 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 67789611 67789611 T G SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.313 p.L105V 1.000 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 36 0 0 47 4 7.84314 NCOA2 0 genome.wustl.edu 37 8 71068296 71068296 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 71068296 71068296 T C SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known silent c.2304 p.R768 0.841 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 47 0 0 66 10 13.1579 NCOA2 0 genome.wustl.edu 37 8 71068364 71068364 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 71068364 71068364 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.2236 p.R746C 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 106 0 0 98 33 25.1908 TRPA1 0 genome.wustl.edu 37 8 72946564 72946564 + Silent SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 72946564 72946564 T C SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.2604 p.K868 1.000 pfam_Ion_trans_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 72 0 0 93 6 6.06061 JPH1 0 genome.wustl.edu 37 8 75171672 75171672 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 75171672 75171672 G A SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known silent c.1206 p.C402 0.732 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 59 0 0 68 8 10.5263 ZFHX4 0 genome.wustl.edu 37 8 77768354 77768354 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 77768354 77768354 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9197 p.R3066H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 158 1 0.628931 108 51 32.0755 PSKH2 0 genome.wustl.edu 37 8 87060712 87060712 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 87060712 87060712 C T SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known silent c.1137 p.S379 0.002 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 PSKH2 HGNC ENSG00000147613 107 0 0 103 15 12.7119 RUNX1T1 0 genome.wustl.edu 37 8 93026963 93026963 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 93026963 93026963 A G SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known silent c.345 p.S115 0.632 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 50 0 0 49 19 27.9412 GEM 0 genome.wustl.edu 37 8 95272569 95272569 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 95272569 95272569 G A SNP GEM ENST00000297596 human ensembl 74_37 -1 known missense c.163 p.R55C 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors GEM HGNC ENSG00000164949 36 0 0 22 23 51.1111 CCNE2 0 genome.wustl.edu 37 8 95900288 95900288 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 95900288 95900288 T C SNP CCNE2 ENST00000308108 human ensembl 74_37 -1 known missense c.467 p.Y156C 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE2 HGNC ENSG00000175305 43 0 0 79 8 9.1954 NDUFAF6 0 genome.wustl.edu 37 8 96059246 96059246 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 96059246 96059246 A G SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known missense c.605 p.H202R 1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 58 0 0 71 10 12.3457 TRIM14 0 genome.wustl.edu 37 9 100854204 100854204 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 100854204 100854204 C T SNP TRIM14 ENST00000341469 human ensembl 74_37 -1 known silent c.780 p.S260 0.001 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM14 HGNC ENSG00000106785 80 0 0 66 9 12 CORO2A 0 genome.wustl.edu 37 9 100887136 100887136 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 100887136 100887136 G A SNP CORO2A ENST00000343933 human ensembl 74_37 -1 known silent c.1498 p.L500 0.993 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 16 0 0 7 4 36.3636 INVS 0 genome.wustl.edu 37 9 103035322 103035322 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 103035322 103035322 T C SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.1748 p.M583T 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS 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 237 0 0 156 19 10.8571 RNF20 0 genome.wustl.edu 37 9 104312994 104312994 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 104312994 104312994 C T SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known missense c.1199 p.A400V 1.000 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 173 0 0 159 34 17.6166 CYLC2 0 genome.wustl.edu 37 9 105767799 105767799 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 105767799 105767799 G A SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.886 p.A296T 0.004 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 51 0 0 54 8 12.9032 OR13C3 0 genome.wustl.edu 37 9 107298285 107298285 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 107298285 107298285 C T SNP OR13C3 ENST00000374781 human ensembl 74_37 -1 known silent c.810 p.T270 0.997 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 OR13C3 HGNC ENSG00000204246 124 0 0 111 21 15.9091 ABCA1 0 genome.wustl.edu 37 9 107645350 107645350 + Missense_Mutation SNP T T A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 107645350 107645350 T A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.391 p.T131S 0.013 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 104 0 0 99 15 13.1579 CTNNAL1 0 genome.wustl.edu 37 9 111741587 111741587 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 111741587 111741587 G A SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known nonsense c.1075 p.Q359* 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 82 0 0 59 8 11.9403 WDR31 0 genome.wustl.edu 37 9 116079127 116079127 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 116079127 116079127 C T SNP WDR31 ENST00000374193 human ensembl 74_37 -1 known missense c.1006 p.A336T 0.005 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 WDR31 HGNC ENSG00000148225 58 0 0 51 9 15 RGS3 0 genome.wustl.edu 37 9 116241776 116241776 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 116241776 116241776 C A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.421 p.L141M 1.000 superfamily_C2_dom pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 119 1 0.833333 104 14 11.8644 FOXD4 0 genome.wustl.edu 37 9 117619 117619 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 117619 117619 G A SNP FOXD4 ENST00000382500 human ensembl 74_37 -1 known silent c.501 p.R167 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 FOXD4 HGNC ENSG00000170122 371 1 0.268817 284 24 7.79221 TNC 0 genome.wustl.edu 37 9 117848173 117848173 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 117848173 117848173 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.1837 p.E613K 0.962 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 18 0 0 22 8 26.6667 PTGS1 0 genome.wustl.edu 37 9 125140783 125140783 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 125140783 125140783 G A SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.283 p.G95R 0.985 superfamily_Haem_peroxidase pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 75 0 0 56 12 17.6471 ZBTB26 0 genome.wustl.edu 37 9 125681367 125681367 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 125681367 125681367 G A SNP ZBTB26 ENST00000373654 human ensembl 74_37 -1 known missense c.847 p.R283C 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 120 0 0 109 21 16.1538 LHX2 0 genome.wustl.edu 37 9 126777589 126777589 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 126777589 126777589 C T SNP LHX2 ENST00000373615 human ensembl 74_37 +1 known missense c.512 p.A171V 1.000 pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX2 HGNC ENSG00000106689 75 0 0 40 10 20 ARPC5L 0 genome.wustl.edu 37 9 127637424 127637424 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 127637424 127637424 C T SNP ARPC5L ENST00000259477 human ensembl 74_37 +1 known silent c.393 p.H131 0.999 pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc - no_errors ARPC5L HGNC ENSG00000136950 75 0 0 65 16 19.7531 MVB12B 0 genome.wustl.edu 37 9 129154437 129154437 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 129154437 129154437 C T SNP MVB12B ENST00000361171 human ensembl 74_37 +1 known missense c.502 p.R168W 1.000 pfam_FAM125 pfam_FAM125 - no_errors MVB12B HGNC ENSG00000196814 104 0 0 82 26 24.0741 ZBTB34 0 genome.wustl.edu 37 9 129642791 129642791 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 129642791 129642791 G A SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known silent c.1113 p.P371 0.434 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 50 0 0 30 15 33.3333 FAM129B 0 genome.wustl.edu 37 9 130271277 130271277 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 130271277 130271277 C T SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.1295 p.R432Q 1.000 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 26 0 0 18 4 18.1818 PTGES2 0 genome.wustl.edu 37 9 130886796 130886796 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 130886796 130886796 C T SNP PTGES2 ENST00000338961 human ensembl 74_37 -1 known missense c.511 p.A171T 0.994 superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors PTGES2 HGNC ENSG00000148334 44 0 0 28 7 20 ODF2 0 genome.wustl.edu 37 9 131221920 131221920 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 131221920 131221920 C A SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known missense c.107 p.P36H 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 51 0 0 40 7 14.8936 WDR34 0 genome.wustl.edu 37 9 131396155 131396155 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 131396155 131396155 C T SNP WDR34 ENST00000372715 human ensembl 74_37 -1 known silent c.1479 p.Q493 0.997 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_dom - no_errors WDR34 HGNC ENSG00000119333 54 0 0 53 9 14.5161 DOLK 0 genome.wustl.edu 37 9 131708027 131708027 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 131708027 131708027 T C SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.1556 p.Y519C 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 137 0 0 76 19 20 SH3GLB2 0 genome.wustl.edu 37 9 131771036 131771036 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 131771036 131771036 G A SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known missense c.1142 p.P381L 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 40 0 0 35 3 7.89474 CRAT 0 genome.wustl.edu 37 9 131870275 131870275 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 131870275 131870275 G A SNP CRAT ENST00000318080 human ensembl 74_37 -1 known missense c.109 p.R37W 0.023 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 51 0 0 43 7 14 USP20 0 genome.wustl.edu 37 9 132630629 132630629 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 132630629 132630629 G A SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.1036 p.E346K 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 USP20 HGNC ENSG00000136878 68 0 0 42 6 12.5 FIBCD1 0 genome.wustl.edu 37 9 133805022 133805022 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 133805022 133805022 G A SNP FIBCD1 ENST00000372338 human ensembl 74_37 -1 known missense c.484 p.R162W 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FIBCD1 HGNC ENSG00000130720 14 0 0 10 4 28.5714 LAMC3 0 genome.wustl.edu 37 9 133951290 133951290 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 133951290 133951290 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.3567 p.A1189 0.014 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 11 0 0 10 4 28.5714 RAPGEF1 0 genome.wustl.edu 37 9 134459910 134459910 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 134459910 134459910 T C SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.2803 p.M935V 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,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 86 0 0 58 17 22.6667 SETX 0 genome.wustl.edu 37 9 135201786 135201786 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 135201786 135201786 C T SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.5199 p.V1733 1.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 56 0 0 49 9 15.5172 TTF1 0 genome.wustl.edu 37 9 135251410 135251410 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 135251410 135251410 G A SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known silent c.2610 p.D870 0.002 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 67 0 0 57 15 20.8333 DDX31 0 genome.wustl.edu 37 9 135487481 135487481 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 135487481 135487481 C T SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known missense c.2302 p.V768M 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 164 0 0 112 29 20.5674 C9orf96 0 genome.wustl.edu 37 9 136268949 136268949 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 136268949 136268949 C T SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known silent c.1600 p.L534 0.023 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 19 0 0 20 5 20 ADAMTS13 0 genome.wustl.edu 37 9 136320407 136320407 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 136320407 136320407 T G SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.3250 p.C1084G 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 103 0 0 87 14 13.8614 ADAMTSL2 0 genome.wustl.edu 37 9 136403509 136403509 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 136403509 136403509 C T SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known missense c.599 p.T200M 0.831 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 46 0 0 42 9 17.6471 VAV2 0 genome.wustl.edu 37 9 136637093 136637093 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 136637093 136637093 G A SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known silent c.2211 p.F737 0.992 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 102 0 0 70 12 14.6341 CAMSAP1 0 genome.wustl.edu 37 9 138713422 138713422 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 138713422 138713422 C T SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.3118 p.E1040K 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 68 0 0 45 6 11.7647 UBAC1 0 genome.wustl.edu 37 9 138839710 138839710 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 138839710 138839710 C T SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known silent c.375 p.L125 0.006 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 29 0 0 14 2 12.5 SNAPC4 0 genome.wustl.edu 37 9 139276396 139276396 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 139276396 139276396 G A SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.2197 p.H733Y 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 21 0 0 13 3 18.75 NOTCH1 0 genome.wustl.edu 37 9 139391870 139391870 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 139391870 139391870 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.6321 p.H2107 0.517 superfamily_Ankyrin_rpt-contain_dom,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 50 0 0 31 6 16.2162 TRAF2 0 genome.wustl.edu 37 9 139820309 139820309 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 139820309 139820309 G A SNP TRAF2 ENST00000359662 human ensembl 74_37 +1 known missense c.1618 p.D540N 0.998 pfam_MATH,superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 65 0 0 43 10 18.8679 CNTLN 0 genome.wustl.edu 37 9 17394855 17394855 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 17394855 17394855 A G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known silent c.2403 p.S801 0.022 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 139 0 0 83 19 18.6275 ACO1 0 genome.wustl.edu 37 9 32431791 32431791 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 32431791 32431791 C T SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known missense c.1801 p.R601C 0.949 superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 112 0 0 83 16 16.1616 UBAP2 0 genome.wustl.edu 37 9 33927811 33927811 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 33927811 33927811 C T SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known silent c.2355 p.A785 0.001 NULL pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 40 0 0 30 4 11.7647 UBAP2 0 genome.wustl.edu 37 9 33932594 33932594 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 33932594 33932594 G A SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known missense c.2141 p.A714V 0.592 NULL pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 29 0 0 27 3 10 PIGO 0 genome.wustl.edu 37 9 35089116 35089116 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 35089116 35089116 C T SNP PIGO ENST00000341666 human ensembl 74_37 -1 known silent c.3243 p.R1081 0.056 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 154 0 0 112 29 20.5674 PIGO 0 genome.wustl.edu 37 9 35095095 35095095 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 35095095 35095095 G A SNP PIGO ENST00000341666 human ensembl 74_37 -1 known silent c.468 p.H156 0.895 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 69 0 0 58 15 20.5479 TMEM8B 0 genome.wustl.edu 37 9 35842713 35842713 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 35842713 35842713 C T SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known missense c.278 p.A93V 0.680 NULL pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 22 0 0 14 4 22.2222 LOC100996870 0 genome.wustl.edu 37 9 66466537 66466537 + RNA SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 66466537 66466537 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 18 0 0 18 3 14.2857 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 41 0 0 62 6 8.82353 KANK1 0 genome.wustl.edu 37 9 711849 711849 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 711849 711849 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.1083 p.T361 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 43 0 0 42 6 12.5 PCSK5 0 genome.wustl.edu 37 9 78790138 78790138 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 78790138 78790138 A G SNP PCSK5 ENST00000376767 human ensembl 74_37 +1 known missense c.1993 p.K665E 0.037 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 38 0 0 37 4 9.7561 PTPRD 0 genome.wustl.edu 37 9 8518269 8518269 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 8518269 8518269 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.1122 p.A374 0.677 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 133 0 0 105 21 16.6667 SPATA31E1 0 genome.wustl.edu 37 9 90502650 90502650 + Missense_Mutation SNP T T C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 90502650 90502650 T C SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.3248 p.V1083A 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 49 0 0 48 8 14.2857 WNK2 0 genome.wustl.edu 37 9 96026289 96026289 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 96026289 96026289 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.3670 p.A1224T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 31 0 0 16 2 11.1111 C9orf129 0 genome.wustl.edu 37 9 96097723 96097723 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 96097723 96097723 C T SNP C9orf129 ENST00000375419 human ensembl 74_37 -1 known missense c.298 p.A100T 0.982 NULL NULL - no_errors C9orf129 HGNC ENSG00000204352 37 0 0 19 10 34.4828 FANCC 0 genome.wustl.edu 37 9 97869413 97869413 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 97869413 97869413 G A SNP FANCC ENST00000289081 human ensembl 74_37 -1 known missense c.1468 p.L490F 0.771 pfam_Fanconi,pirsf_Fanconi,prints_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 45 0 0 32 6 15.7895 DMRT3 0 genome.wustl.edu 37 9 990216 990216 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 990216 990216 C T SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known silent c.630 p.N210 0.152 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 59 0 0 42 15 26.3158 ZNF782 0 genome.wustl.edu 37 9 99581109 99581109 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 99581109 99581109 C T SNP ZNF782 ENST00000481138 human ensembl 74_37 -1 known missense c.1196 p.C399Y 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 ZNF782 HGNC ENSG00000196597 123 0 0 99 20 16.8067 XKRX 0 genome.wustl.edu 37 X 100169759 100169759 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 100169759 100169759 G A SNP XKRX ENST00000328526 human ensembl 74_37 -1 known silent c.957 p.V319 0.530 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 199 0 0 116 36 23.6842 AMOT 0 genome.wustl.edu 37 X 112035060 112035060 + Missense_Mutation SNP C C A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 112035060 112035060 C A SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.1926 p.Q642H 1.000 pfam_Angiomotin_C pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 142 0 0 104 20 16.129 DOCK11 0 genome.wustl.edu 37 X 117722266 117722266 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 117722266 117722266 C T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known silent c.1962 p.S654 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 71 0 0 71 15 17.4419 THOC2 0 genome.wustl.edu 37 X 122805587 122805587 + Missense_Mutation SNP G G C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 122805587 122805587 G C SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.794 p.S265C 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 97 0 0 64 23 26.4368 TLR8 0 genome.wustl.edu 37 X 12939516 12939516 + Missense_Mutation SNP G G T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 12939516 12939516 G T SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.2357 p.W786L 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 121 0 0 82 27 24.7706 MAMLD1 0 genome.wustl.edu 37 X 149639052 149639052 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 149639052 149639052 A G SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.1132 p.M378V 0.018 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 140 0 0 62 22 26.1905 SRPK3 0 genome.wustl.edu 37 X 153050422 153050422 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 153050422 153050422 G A SNP SRPK3 ENST00000370101 human ensembl 74_37 +1 known missense c.1390 p.E464K 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SRPK3 HGNC ENSG00000184343 19 0 0 15 5 25 MECP2 0 genome.wustl.edu 37 X 153296471 153296471 + Nonsense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 153296471 153296471 G A SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known nonsense c.808 p.R270* 0.999 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 90 0 0 47 14 22.9508 BMX 0 genome.wustl.edu 37 X 15543416 15543416 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 15543416 15543416 G A SNP BMX ENST00000342014 human ensembl 74_37 +1 known missense c.758 p.S253N 0.003 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC ENSG00000102010 114 0 0 96 11 10.2804 ACE2 0 genome.wustl.edu 37 X 15585915 15585915 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 15585915 15585915 C T SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.1931 p.R644Q 0.223 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 96 0 0 67 13 16.25 NHS 0 genome.wustl.edu 37 X 17705908 17705908 + Silent SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 17705908 17705908 C T SNP NHS ENST00000380060 human ensembl 74_37 +1 known silent c.612 p.R204 0.216 NULL NULL - no_errors NHS HGNC ENSG00000188158 73 0 0 44 14 24.1379 PHEX 0 genome.wustl.edu 37 X 22117151 22117151 + Missense_Mutation SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 22117151 22117151 G A SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.961 p.V321I 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 134 0 0 82 22 21.1538 ZBED1 0 genome.wustl.edu 37 X 2407303 2407303 + Silent SNP G G A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 2407303 2407303 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known silent c.1458 p.S486 0.225 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 91 0 0 41 7 14.5833 DCAF8L1 0 genome.wustl.edu 37 X 27997798 27997798 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 27997798 27997798 C T SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known missense c.1654 p.V552M 0.445 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 135 0 0 89 17 16.0377 PPP2R3B 0 genome.wustl.edu 37 X 306335 306335 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 306335 306335 C T SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known missense c.952 p.V318I 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 90 0 0 44 17 27.8689 DMD 0 genome.wustl.edu 37 X 31676228 31676228 + Missense_Mutation SNP T T G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 31676228 31676228 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.7906 p.N2636H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,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 117 0 0 64 16 20 DMD 0 genome.wustl.edu 37 X 31792185 31792185 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 31792185 31792185 A G SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.7434 p.A2478 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,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 120 0 0 90 10 10 USP11 0 genome.wustl.edu 37 X 47098875 47098875 + Missense_Mutation SNP C C T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 47098875 47098875 C T SNP USP11 ENST00000218348 human ensembl 74_37 +1 known missense c.541 p.R181C 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 46 0 0 23 7 23.3333 PAGE1 0 genome.wustl.edu 37 X 49459349 49459349 + Missense_Mutation SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 49459349 49459349 A G SNP PAGE1 ENST00000376150 human ensembl 74_37 -1 known missense c.25 p.Y9H 0.001 pfam_GAGE pfam_GAGE - no_errors PAGE1 HGNC ENSG00000068985 48 0 0 32 9 21.9512 KDM5C 0 genome.wustl.edu 37 X 53228052 53228052 + Silent SNP A A G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 53228052 53228052 A G SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.2262 p.D754 1.000 pfam_Znf_C5HC2 pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 100 0 0 59 7 10.6061 AMY2B 0 genome.wustl.edu 37 1 104122059 104122059 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 104122059 104122059 T - DEL AMY2B ENST00000361355 human ensembl 74_37 +1 known frame_shift_del c.1473 p.S493fs 0.212 pfam_A-amylase_b_C,smart_A-amylase_b_C pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 378 0 0 358 39 9.82368 SARS 0 genome.wustl.edu 37 1 109766656 109766657 + Frame_Shift_Del DEL GG GG - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 109766656 109766657 GG - DEL SARS ENST00000369923 human ensembl 74_37 +1 known frame_shift_del c.193_194 p.G65fs 1.000:1.000 pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 189 0 0 164 31 15.8974 C1orf127 0 genome.wustl.edu 37 1 11007833 11007833 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 11007833 11007833 C - DEL C1orf127 ENST00000377004 human ensembl 74_37 -1 known frame_shift_del c.2359 p.A787fs 0.000 superfamily_DNA-bd_dom_put superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 13 0 0 7 3 30 KCNC4 0 genome.wustl.edu 37 1 110766448 110766448 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 110766448 110766448 C - DEL KCNC4 ENST00000369787 human ensembl 74_37 +1 known frame_shift_del c.1541 p.R516fs 1.000 prints_K_chnl_volt-dep_Kv3.4 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,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_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 52 0 0 43 4 8.51064 OVGP1 0 genome.wustl.edu 37 1 111957125 111957125 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 111957125 111957125 T - DEL OVGP1 ENST00000369732 human ensembl 74_37 -1 known frame_shift_del c.1998 p.E667fs 0.332 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 70 0 0 73 15 17.0455 PTCHD2 0 genome.wustl.edu 37 1 11574466 11574466 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 11574466 11574466 G - DEL PTCHD2 ENST00000294484 human ensembl 74_37 +1 known frame_shift_del c.1336 p.T448fs 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 90 0 0 81 15 15.625 HSD3B1 0 genome.wustl.edu 37 1 120056669 120056669 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 120056669 120056669 A - DEL HSD3B1 ENST00000235547 human ensembl 74_37 +1 known frame_shift_del c.529 p.N178fs 0.821 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 87 0 0 65 10 13.3333 ADAM30 0 genome.wustl.edu 37 1 120437095 120437095 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 120437095 120437095 T - DEL ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_del c.1865 p.N622fs 0.000 smart_ADAM_Cys-rich 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 80 0 0 68 12 15 NOTCH2 0 genome.wustl.edu 37 1 120458005 120458005 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 120458005 120458005 C - DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.7340 p.G2447fs 0.997 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 67 0 0 90 14 13.4615 AADACL3 0 genome.wustl.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 12785494 12785494 G - DEL AADACL3 ENST00000359318 human ensembl 74_37 +1 known frame_shift_del c.584 p.C195fs 0.040 NULL pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 195 0 0 157 31 16.4894 PRDM2 0 genome.wustl.edu 37 1 14105166 14105166 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 14105166 14105166 G - DEL PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_del c.876 p.E294fs 0.727 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 73 0 0 68 17 20 SETDB1 0 genome.wustl.edu 37 1 150933159 150933159 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 150933159 150933159 C - DEL SETDB1 ENST00000271640 human ensembl 74_37 +1 known frame_shift_del c.2621 p.C876fs 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 146 0 0 109 16 12.8 RIT1 0 genome.wustl.edu 37 1 155880587 155880587 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 155880587 155880587 A - DEL RIT1 ENST00000368322 human ensembl 74_37 -1 known frame_shift_del c.17 p.F6fs 0.000 NULL 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 RIT1 HGNC ENSG00000143622 47 0 0 53 8 13.1148 GPATCH4 0 genome.wustl.edu 37 1 156565504 156565504 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 156565504 156565504 T - DEL GPATCH4 ENST00000438976 human ensembl 74_37 -1 known frame_shift_del c.629 p.K210fs 0.999 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 84 0 0 60 12 16.6667 OR6K2 0 genome.wustl.edu 37 1 158669503 158669503 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 158669503 158669503 A - DEL OR6K2 ENST00000359610 human ensembl 74_37 -1 known frame_shift_del c.940 p.S314fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 102 0 0 70 16 18.6047 SPEN 0 genome.wustl.edu 37 1 16259480 16259480 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 16259480 16259480 C - DEL SPEN ENST00000375759 human ensembl 74_37 +1 known frame_shift_del c.6745 p.A2251fs 0.000 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 137 0 0 91 8 8.08081 GPR161 0 genome.wustl.edu 37 1 168054869 168054869 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 168054869 168054869 C - DEL GPR161 ENST00000537209 human ensembl 74_37 -1 known frame_shift_del c.1550 p.G517fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 85 0 0 59 6 9.23077 SCYL3 0 genome.wustl.edu 37 1 169823717 169823718 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 169823717 169823718 - C INS SCYL3 ENST00000367770 human ensembl 74_37 -1 known frame_shift_ins c.1863_1862 p.I623fs 0.000:0.002 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,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 110 0 0 104 12 10.3448 KIFAP3 0 genome.wustl.edu 37 1 170004605 170004605 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 170004605 170004605 A - DEL KIFAP3 ENST00000361580 human ensembl 74_37 -1 known frame_shift_del c.607 p.C203fs 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 40 0 0 42 8 16 MST1L 0 genome.wustl.edu 37 1 17082264 17082264 + RNA DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 17082264 17082264 G - DEL MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.186 - - - no_errors MST1L HGNC ENSG00000186715 9 0 0 8 4 33.3333 SLC9C2 0 genome.wustl.edu 37 1 173552688 173552688 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 173552688 173552688 A - DEL SLC9C2 ENST00000367714 human ensembl 74_37 -1 known frame_shift_del c.597 p.F199fs 0.212 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 76 0 0 78 10 11.3636 FAM163A 0 genome.wustl.edu 37 1 179783166 179783166 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 179783166 179783166 G - DEL FAM163A ENST00000341785 human ensembl 74_37 +1 known frame_shift_del c.346 p.G117fs 1.000 NULL NULL - no_errors FAM163A HGNC ENSG00000143340 54 0 0 41 8 16.3265 COLGALT2 0 genome.wustl.edu 37 1 183944249 183944249 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 183944249 183944249 T - DEL COLGALT2 ENST00000361927 human ensembl 74_37 -1 known frame_shift_del c.474 p.K158fs 0.997 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 93 0 0 68 11 13.9241 CFHR4 0 genome.wustl.edu 37 1 196887419 196887419 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 196887419 196887419 A - DEL CFHR4 ENST00000367416 human ensembl 74_37 +1 known frame_shift_del c.1617 p.T541fs 0.003 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 102 0 0 114 26 18.5714 PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 202407190 202407190 T - DEL PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_del c.1496 p.F502fs 0.041 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 PPP1R12B HGNC ENSG00000077157 39 0 0 41 18 30.5085 PRELP 0 genome.wustl.edu 37 1 203452549 203452549 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 203452549 203452549 C - DEL PRELP ENST00000343110 human ensembl 74_37 +1 known frame_shift_del c.237 p.P81fs 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 106 0 0 66 16 19.5122 ELK4 0 genome.wustl.edu 37 1 205589099 205589099 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 205589099 205589099 A - DEL ELK4 ENST00000357992 human ensembl 74_37 -1 known frame_shift_del c.1075 p.S359fs 0.998 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK4 HGNC ENSG00000158711 88 0 0 66 6 8.33333 SLC26A9 0 genome.wustl.edu 37 1 205884287 205884287 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 205884287 205884287 C - DEL SLC26A9 ENST00000340781 human ensembl 74_37 -1 known frame_shift_del c.2397 p.C800fs 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 27 0 0 30 5 14.2857 SLC30A1 0 genome.wustl.edu 37 1 211749384 211749384 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 211749384 211749384 G - DEL SLC30A1 ENST00000367001 human ensembl 74_37 -1 known frame_shift_del c.870 p.C291fs 1.000 pfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 158 0 0 119 22 15.6028 GNPAT 0 genome.wustl.edu 37 1 231411232 231411234 + In_Frame_Del DEL AGA AGA - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 231411232 231411234 AGA - DEL GNPAT ENST00000366647 human ensembl 74_37 +1 known in_frame_del c.1925_1927 p.K645in_frame_del 0.002:0.011:0.174 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 96 0 0 82 6 6.81818 DISC1 0 genome.wustl.edu 37 1 231954130 231954131 + Frame_Shift_Del DEL AG AG - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 231954130 231954131 AG - DEL DISC1 ENST00000439617 human ensembl 74_37 +1 known frame_shift_del c.1848_1849 p.E619fs 0.000:0.971 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 131 0 0 118 20 14.4928 TARBP1 0 genome.wustl.edu 37 1 234565327 234565327 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 234565327 234565327 T - DEL TARBP1 ENST00000040877 human ensembl 74_37 -1 novel frame_shift_del c.2706 p.K902fs 0.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 115 0 0 99 25 20.1613 RBM34 0 genome.wustl.edu 37 1 235323946 235323947 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 235323946 235323947 - T INS RBM34 ENST00000408888 human ensembl 74_37 -1 known frame_shift_ins c.245_244 p.T82fs 0.962:0.968 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 207 0 0 156 13 7.69231 RYR2 0 genome.wustl.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 237969494 237969494 T - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.14227 p.F4745fs 1.000 pfam_Ion_trans_dom 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 49 0 0 44 13 22.807 SRSF4 0 genome.wustl.edu 37 1 29475698 29475703 + In_Frame_Del DEL GGCTCC GGCTCC - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 GGCTCC GGCTCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 29475698 29475703 GGCTCC - DEL SRSF4 ENST00000373795 human ensembl 74_37 -1 known in_frame_del c.709_704 p.RS235in_frame_del 0.998:1.000:1.000:1.000:0.997:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF4 HGNC ENSG00000116350 52 0 0 49 7 12.5 HCRTR1 0 genome.wustl.edu 37 1 32084832 32084832 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 32084832 32084832 C - DEL HCRTR1 ENST00000373706 human ensembl 74_37 +1 known frame_shift_del c.39 p.P15fs 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 52 0 0 40 8 16.6667 AGO1 0 genome.wustl.edu 37 1 36354045 36354045 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 36354045 36354045 C - DEL AGO1 ENST00000373204 human ensembl 74_37 +1 known frame_shift_del c.43 p.L17fs 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 71 0 0 48 8 14.2857 CCDC27 0 genome.wustl.edu 37 1 3688024 3688025 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 3688024 3688025 - C INS CCDC27 ENST00000294600 human ensembl 74_37 +1 known frame_shift_ins c.1908_1909 p.L638fs 0.063:0.211 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 106 0 0 76 12 13.6364 STIL 0 genome.wustl.edu 37 1 47717309 47717309 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 47717309 47717309 T - DEL STIL ENST00000371877 human ensembl 74_37 -1 known frame_shift_del c.3366 p.K1122fs 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 177 0 0 168 33 16.4179 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 56 0 0 30 6 16.6667 JAK1 0 genome.wustl.edu 37 1 65325833 65325833 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 65325833 65325833 G - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.1289 p.P430fs 0.995 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 76 0 0 37 6 13.9535 JAK1 0 genome.wustl.edu 37 1 65339111 65339111 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 65339111 65339111 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.425 p.K142fs 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 65 0 0 59 9 13.2353 DEPDC1 0 genome.wustl.edu 37 1 68960310 68960310 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 68960310 68960310 T - DEL DEPDC1 ENST00000456315 human ensembl 74_37 -1 known frame_shift_del c.117 p.K39fs 0.995 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 57 0 0 42 9 17.6471 LRRIQ3 0 genome.wustl.edu 37 1 74492558 74492559 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 74492558 74492559 - T INS LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_ins c.1814_1813 p.T605fs 0.899:0.187 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 33 0 0 31 8 20.5128 NEXN 0 genome.wustl.edu 37 1 78392423 78392424 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 78392423 78392424 - A INS NEXN ENST00000334785 human ensembl 74_37 +1 known frame_shift_ins c.710_711 p.E240fs 0.005:0.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 126 0 0 113 16 12.4031 PER3 0 genome.wustl.edu 37 1 7858597 7858597 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 7858597 7858597 C - DEL PER3 ENST00000361923 human ensembl 74_37 +1 known frame_shift_del c.654 p.D218fs 0.006 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 89 0 0 87 17 16.3462 CLCA4 0 genome.wustl.edu 37 1 87025666 87025666 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 87025666 87025666 T - DEL CLCA4 ENST00000370563 human ensembl 74_37 +1 known frame_shift_del c.211 p.F73fs 0.527 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 142 0 0 123 11 8.20896 ZNF644 0 genome.wustl.edu 37 1 91406040 91406040 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 91406040 91406040 T - DEL ZNF644 ENST00000337393 human ensembl 74_37 -1 known frame_shift_del c.871 p.R291fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 61 0 0 80 8 9.09091 HFM1 0 genome.wustl.edu 37 1 91727872 91727873 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 91727872 91727873 - T INS HFM1 ENST00000370425 human ensembl 74_37 -1 known frame_shift_ins c.4164_4163 p.N1388fs 0.000:0.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 68 0 0 71 8 10.1266 DPYD 0 genome.wustl.edu 37 1 97771791 97771791 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 1 97771791 97771791 A - DEL DPYD ENST00000370192 human ensembl 74_37 -1 known frame_shift_del c.2121 p.F707fs 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH 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 280 0 0 244 31 11.2727 NFKB2 0 genome.wustl.edu 37 10 104158163 104158163 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 104158163 104158163 C - DEL NFKB2 ENST00000369966 human ensembl 74_37 +1 known frame_shift_del c.874 p.Y294fs 1.000 superfamily_Ig_E-set,smart_IPT,prints_NF_Rel_Dor pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 143 0 0 125 12 8.75912 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 157 0 0 132 15 10.2041 NRAP 0 genome.wustl.edu 37 10 115383370 115383370 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 115383370 115383370 T - DEL NRAP ENST00000369358 human ensembl 74_37 -1 known frame_shift_del c.2399 p.N800fs 0.993 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 143 0 0 115 21 15.4412 ABLIM1 0 genome.wustl.edu 37 10 116232886 116232886 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 116232886 116232886 T - DEL ABLIM1 ENST00000277895 human ensembl 74_37 -1 known frame_shift_del c.1125 p.V376fs 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 98 0 0 87 6 6.45161 INPP5F 0 genome.wustl.edu 37 10 121551681 121551681 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 121551681 121551681 T - DEL INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_del c.625 p.W211fs 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 57 0 0 47 7 12.963 TACC2 0 genome.wustl.edu 37 10 123844356 123844356 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 123844356 123844356 C - DEL TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_del c.2341 p.Q783fs 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 81 0 0 54 10 15.625 OPTN 0 genome.wustl.edu 37 10 13151192 13151192 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 13151192 13151192 C - DEL OPTN ENST00000263036 human ensembl 74_37 +1 known frame_shift_del c.70 p.H26fs 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 126 0 0 88 14 13.7255 FAM171A1 0 genome.wustl.edu 37 10 15255036 15255036 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 15255036 15255036 G - DEL FAM171A1 ENST00000378116 human ensembl 74_37 -1 known frame_shift_del c.2551 p.H851fs 0.011 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 113 0 0 81 14 14.7368 CUBN 0 genome.wustl.edu 37 10 16949569 16949569 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 16949569 16949569 A - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.7643 p.F2548fs 0.992 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 66 0 0 64 7 9.85915 PFKP 0 genome.wustl.edu 37 10 3174595 3174596 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 3174595 3174596 - A INS PFKP ENST00000381125 human ensembl 74_37 +1 known frame_shift_ins c.1872_1873 p.M625fs 1.000:1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 263 0 0 172 25 12.6904 ZNF248 0 genome.wustl.edu 37 10 38121237 38121237 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 38121237 38121237 C - DEL ZNF248 ENST00000357328 human ensembl 74_37 -1 known frame_shift_del c.1046 p.G349fs 0.075 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF248 HGNC ENSG00000198105 143 0 0 117 20 14.5985 RTKN2 0 genome.wustl.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 105 0 0 75 12 13.7931 CTNNA3 0 genome.wustl.edu 37 10 67680208 67680208 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 67680208 67680208 T - DEL CTNNA3 ENST00000373744 human ensembl 74_37 -1 known frame_shift_del c.2568 p.K856fs 0.996 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 106 0 0 80 14 14.8936 DDX50 0 genome.wustl.edu 37 10 70670982 70670982 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 70670982 70670982 A - DEL DDX50 ENST00000373585 human ensembl 74_37 +1 known frame_shift_del c.619 p.S209fs 0.998 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 172 0 0 140 22 13.5802 LARP4B 0 genome.wustl.edu 37 10 890938 890939 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 890938 890939 - T INS LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_ins c.488_487 p.T163fs 1.000:1.000 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 80 0 0 68 14 17.0732 PTEN 0 genome.wustl.edu 37 10 89717770 89717770 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 89717770 89717770 A - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.795 p.K267fs 0.994 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 73 0 0 64 17 20.9877 SLC16A12 0 genome.wustl.edu 37 10 91203598 91203598 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 91203598 91203598 A - DEL SLC16A12 ENST00000371790 human ensembl 74_37 -1 known frame_shift_del c.219 p.F73fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 58 0 0 57 13 18.5714 KIF20B 0 genome.wustl.edu 37 10 91478521 91478521 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 91478521 91478521 T - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.1326 p.F444fs 0.995 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 62 0 0 65 7 9.72222 HECTD2 0 genome.wustl.edu 37 10 93247481 93247481 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 93247481 93247481 A - DEL HECTD2 ENST00000446394 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 117 0 0 103 11 9.64912 ARHGAP19-SLIT1 0 genome.wustl.edu 37 10 99019160 99019160 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 10 99019160 99019160 T - DEL ARHGAP19-SLIT1 ENST00000453547 human ensembl 74_37 -1 known frame_shift_del c.839 p.N280fs 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP19-SLIT1 HGNC ENSG00000269891 147 0 0 116 24 17.1429 ELMOD1 0 genome.wustl.edu 37 11 107535793 107535794 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 107535793 107535794 - C INS ELMOD1 ENST00000265840 human ensembl 74_37 +1 known frame_shift_ins c.875_876 p.M294fs 1.000:1.000 pfam_Engulfment_cell_motility_ELMO pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD1 HGNC ENSG00000110675 191 0 0 180 14 7.21649 KDELC2 0 genome.wustl.edu 37 11 108352942 108352944 + In_Frame_Del DEL AGA AGA - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 108352942 108352944 AGA - DEL KDELC2 ENST00000323468 human ensembl 74_37 -1 known in_frame_del c.692_690 p.L231in_frame_del 1.000:0.998:0.948 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC2 HGNC ENSG00000178202 53 0 0 50 9 15.2542 ZC3H12C 0 genome.wustl.edu 37 11 110035762 110035762 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 110035762 110035762 C - DEL ZC3H12C ENST00000278590 human ensembl 74_37 +1 known frame_shift_del c.1952 p.D653fs 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 199 0 0 141 23 14.0244 FDXACB1 0 genome.wustl.edu 37 11 111745971 111745971 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 111745971 111745971 T - DEL FDXACB1 ENST00000260257 human ensembl 74_37 -1 known frame_shift_del c.1550 p.N517fs 0.285 NULL pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 74 0 0 56 15 21.1268 BCO2 0 genome.wustl.edu 37 11 112071414 112071414 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 112071414 112071414 G - DEL BCO2 ENST00000357685 human ensembl 74_37 +1 known frame_shift_del c.944 p.G316fs 0.299 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 118 0 0 119 17 12.5 POU2F3 0 genome.wustl.edu 37 11 120187961 120187963 + In_Frame_Del DEL AAC AAC - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 120187961 120187963 AAC - DEL POU2F3 ENST00000260264 human ensembl 74_37 +1 known in_frame_del c.1165_1167 p.N390in_frame_del 1.000:1.000:1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 125 0 0 105 15 12.5 KCNJ1 0 genome.wustl.edu 37 11 128709635 128709635 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 128709635 128709635 T - DEL KCNJ1 ENST00000392664 human ensembl 74_37 -1 known frame_shift_del c.561 p.K187fs 0.909 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ1 HGNC ENSG00000151704 115 0 0 89 19 17.5926 PRDM10 0 genome.wustl.edu 37 11 129827738 129827738 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 129827738 129827738 G - DEL PRDM10 ENST00000358825 human ensembl 74_37 -1 known frame_shift_del c.137 p.P46fs 0.996 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 248 0 0 204 25 10.917 MYOD1 0 genome.wustl.edu 37 11 17741373 17741373 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 17741373 17741373 C - DEL MYOD1 ENST00000250003 human ensembl 74_37 +1 known frame_shift_del c.44 p.D17fs 1.000 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 84 0 0 49 7 12.5 ZDHHC13 0 genome.wustl.edu 37 11 19177422 19177422 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 19177422 19177422 T - DEL ZDHHC13 ENST00000446113 human ensembl 74_37 +1 known frame_shift_del c.953 p.L319fs 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 39 0 0 38 10 20.8333 MUC15 0 genome.wustl.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 26587427 26587427 T - DEL MUC15 ENST00000436318 human ensembl 74_37 -1 known frame_shift_del c.60 p.K20fs 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 51 0 0 47 8 14.5455 HIPK3 0 genome.wustl.edu 37 11 33358692 33358693 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 33358692 33358693 - T INS HIPK3 ENST00000303296 human ensembl 74_37 +1 known frame_shift_ins c.1293_1294 p.C433fs 1.000:1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 HIPK3 HGNC ENSG00000110422 53 0 0 42 9 17.6471 PAMR1 0 genome.wustl.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 35513670 35513670 C - DEL PAMR1 ENST00000278360 human ensembl 74_37 -1 known frame_shift_del c.302 p.G101fs 0.999 smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 379 0 0 314 46 12.7778 FNBP4 0 genome.wustl.edu 37 11 47744543 47744543 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 47744543 47744543 T - DEL FNBP4 ENST00000263773 human ensembl 74_37 -1 known frame_shift_del c.2790 p.G931fs 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 11 0 0 10 5 33.3333 OR52A5 0 genome.wustl.edu 37 11 5153679 5153679 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 5153679 5153679 A - DEL OR52A5 ENST00000307388 human ensembl 74_37 -1 known frame_shift_del c.194 p.L65fs 0.870 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 92 0 0 99 9 8.33333 TRIM51 0 genome.wustl.edu 37 11 55653610 55653611 + Frame_Shift_Del DEL AA AA - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 55653610 55653611 AA - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423_424 p.K143fs 0.001:0.003 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 53 0 0 41 13 24.0741 OR10AG1 0 genome.wustl.edu 37 11 55735780 55735781 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 55735780 55735781 - A INS OR10AG1 ENST00000312345 human ensembl 74_37 -1 known frame_shift_ins c.160_159 p.L53fs 0.976:0.945 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 OR10AG1 HGNC ENSG00000174970 98 0 0 95 8 7.76699 OR5M3 0 genome.wustl.edu 37 11 56237709 56237709 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 56237709 56237709 T - DEL OR5M3 ENST00000312240 human ensembl 74_37 -1 known frame_shift_del c.265 p.T89fs 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 148 0 0 121 16 11.6788 TNKS1BP1 0 genome.wustl.edu 37 11 57077118 57077119 + Frame_Shift_Del DEL CT CT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 57077118 57077119 CT - DEL TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known frame_shift_del c.3067_3066 p.G1023fs 0.000:0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 59 0 0 53 5 8.62069 OR4D9 0 genome.wustl.edu 37 11 59282835 59282835 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 59282835 59282835 G - DEL OR4D9 ENST00000329328 human ensembl 74_37 +1 known frame_shift_del c.450 p.G152fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC ENSG00000172742 76 0 0 85 9 9.57447 CDHR5 0 genome.wustl.edu 37 11 617603 617603 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 617603 617603 G - DEL CDHR5 ENST00000358353 human ensembl 74_37 -1 known frame_shift_del c.2286 p.A763fs 0.000 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 11 0 0 8 2 20 RTN3 0 genome.wustl.edu 37 11 63488463 63488464 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 63488463 63488464 - A INS RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_ins c.2489_2490 p.H833fs 0.897:0.925 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 121 0 0 99 19 16.1017 RTN3 0 genome.wustl.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 63525788 63525788 T - DEL RTN3 ENST00000354497 human ensembl 74_37 +1 putative frame_shift_del c.570 p.L193fs 0.998 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 52 0 0 70 14 16.6667 VEGFB 0 genome.wustl.edu 37 11 64004663 64004663 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 64004663 64004663 A - DEL VEGFB ENST00000309422 human ensembl 74_37 +1 known frame_shift_del c.379 p.K129fs 1.000 pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 141 0 0 100 20 16.6667 C11orf68 0 genome.wustl.edu 37 11 65684985 65684985 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 65684985 65684985 C - DEL C11orf68 ENST00000438576 human ensembl 74_37 -1 known frame_shift_del c.827 p.G276fs 0.996 superfamily_TIF_eIF4e-like_dom pfam_DUF1917,superfamily_TIF_eIF4e-like_dom - no_errors C11orf68 HGNC ENSG00000175573 65 0 0 50 7 12.2807 SUV420H1 0 genome.wustl.edu 37 11 67925937 67925937 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 67925937 67925937 T - DEL SUV420H1 ENST00000304363 human ensembl 74_37 -1 known frame_shift_del c.1876 p.I626fs 0.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 44 0 0 36 8 18.1818 CPT1A 0 genome.wustl.edu 37 11 68582821 68582821 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 68582821 68582821 T - DEL CPT1A ENST00000265641 human ensembl 74_37 -1 known frame_shift_del c.122 p.K41fs 1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 67 0 0 44 9 16.9811 INPPL1 0 genome.wustl.edu 37 11 71948748 71948748 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 71948748 71948748 C - DEL INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_del c.3460 p.R1156fs 0.962 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 18 0 0 4 2 33.3333 C2CD3 0 genome.wustl.edu 37 11 73789381 73789381 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 73789381 73789381 T - DEL C2CD3 ENST00000334126 human ensembl 74_37 -1 known frame_shift_del c.4382 p.K1461fs 0.972 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 87 0 0 56 15 21.1268 GDPD5 0 genome.wustl.edu 37 11 75152219 75152219 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 75152219 75152219 G - DEL GDPD5 ENST00000336898 human ensembl 74_37 -1 known frame_shift_del c.1462 p.L488fs 0.946 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD5 HGNC ENSG00000158555 25 0 0 18 8 30.7692 ALG8 0 genome.wustl.edu 37 11 77835228 77835229 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 77835228 77835229 - G INS ALG8 ENST00000299626 human ensembl 74_37 -1 known frame_shift_ins c.207_206 p.F71fs 0.008:0.999 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ENSG00000159063 166 0 0 107 14 11.5702 PCF11 0 genome.wustl.edu 37 11 82877219 82877219 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 82877219 82877219 A - DEL PCF11 ENST00000298281 human ensembl 74_37 +1 known frame_shift_del c.1280 p.K429fs 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 60 0 0 57 7 10.9375 CTSC 0 genome.wustl.edu 37 11 88068108 88068108 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 88068108 88068108 A - DEL CTSC ENST00000227266 human ensembl 74_37 -1 known frame_shift_del c.315 p.F105fs 1.000 pfam_CathepsinC_exc pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 64 0 0 60 16 21.0526 TMEM41B 0 genome.wustl.edu 37 11 9304992 9304992 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 9304992 9304992 T - DEL TMEM41B ENST00000299596 human ensembl 74_37 -1 known frame_shift_del c.855 p.K285fs 1.000 NULL pfam_SNARE_assoc - no_errors TMEM41B HGNC ENSG00000166471 77 0 0 58 8 12.1212 SCARNA9 0 genome.wustl.edu 37 11 93454921 93454921 + RNA DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 93454921 93454921 G - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 43 0 0 30 10 25 KDM4D 0 genome.wustl.edu 37 11 94730807 94730807 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 94730807 94730807 A - DEL KDM4D ENST00000335080 human ensembl 74_37 +1 known frame_shift_del c.271 p.K93fs 0.600 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 101 0 0 70 14 16.6667 AP2A2 0 genome.wustl.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 11 970195 970195 A - DEL AP2A2 ENST00000332231 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 139 0 0 128 22 14.6667 GNPTAB 0 genome.wustl.edu 37 12 102158002 102158002 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 102158002 102158002 T - DEL GNPTAB ENST00000299314 human ensembl 74_37 -1 known frame_shift_del c.2693 p.K898fs 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 181 0 0 153 27 15 C12orf45 0 genome.wustl.edu 37 12 105388460 105388460 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 105388460 105388460 A - DEL C12orf45 ENST00000552951 human ensembl 74_37 +1 known frame_shift_del c.544 p.K184fs 0.950 NULL NULL - no_errors C12orf45 HGNC ENSG00000151131 45 0 0 47 9 16.0714 STYK1 0 genome.wustl.edu 37 12 10772835 10772836 + Frame_Shift_Del DEL AC AC - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 10772835 10772836 AC - DEL STYK1 ENST00000075503 human ensembl 74_37 -1 known frame_shift_del c.1177_1176 p.L393fs 0.962:0.956 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 204 0 0 160 21 11.6022 WSCD2 0 genome.wustl.edu 37 12 108634217 108634217 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 108634217 108634217 C - DEL WSCD2 ENST00000261400 human ensembl 74_37 +1 known frame_shift_del c.1241 p.I415fs 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 120 0 0 94 9 8.73786 ACAD10 0 genome.wustl.edu 37 12 112184008 112184008 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 112184008 112184008 A - DEL ACAD10 ENST00000455480 human ensembl 74_37 +1 known frame_shift_del c.2269 p.K758fs 0.986 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 112 0 0 100 16 13.7931 FBXO21 0 genome.wustl.edu 37 12 117624320 117624320 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 117624320 117624320 A - DEL FBXO21 ENST00000330622 human ensembl 74_37 -1 known frame_shift_del c.432 p.F144fs 1.000 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 111 0 0 73 7 8.75 POP5 0 genome.wustl.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 121017154 121017156 CTC - DEL POP5 ENST00000357500 human ensembl 74_37 -1 known in_frame_del c.459_457 p.E153in_frame_del 0.998:0.998:0.993 pirsf_RNase_P/MRP_POP5 pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5 - no_errors POP5 HGNC ENSG00000167272 117 0 0 107 10 8.54701 CCDC62 0 genome.wustl.edu 37 12 123307941 123307941 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 123307941 123307941 A - DEL CCDC62 ENST00000253079 human ensembl 74_37 +1 known frame_shift_del c.2030 p.N679fs 0.001 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 112 0 0 96 15 13.5135 DNAH10 0 genome.wustl.edu 37 12 124257468 124257468 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 124257468 124257468 T - DEL DNAH10 ENST00000409039 human ensembl 74_37 +1 known frame_shift_del c.301 p.F102fs 0.917 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 102 0 0 116 24 17.1429 KLHL42 0 genome.wustl.edu 37 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 27950769 27950769 G - DEL KLHL42 ENST00000381271 human ensembl 74_37 +1 known frame_shift_del c.1188 p.C399fs 0.988 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 127 0 0 121 11 8.33333 TMEM117 0 genome.wustl.edu 37 12 44605117 44605117 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 44605117 44605117 A - DEL TMEM117 ENST00000266534 human ensembl 74_37 +1 known frame_shift_del c.555 p.K186fs 0.997 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 126 0 0 110 23 17.2932 AMIGO2 0 genome.wustl.edu 37 12 47472384 47472385 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 47472384 47472385 - T INS AMIGO2 ENST00000266581 human ensembl 74_37 -1 known frame_shift_ins c.402_401 p.N134fs 0.676:0.744 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,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO2 HGNC ENSG00000139211 113 0 0 102 21 17.0732 FAM186B 0 genome.wustl.edu 37 12 49993443 49993445 + In_Frame_Del DEL CTT CTT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 49993443 49993445 CTT - DEL FAM186B ENST00000257894 human ensembl 74_37 -1 known in_frame_del c.1980_1978 p.K660in_frame_del 0.005:0.031:0.034 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 59 0 0 50 8 13.7931 PRPF40B 0 genome.wustl.edu 37 12 50025229 50025229 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 50025229 50025229 C - DEL PRPF40B ENST00000548825 human ensembl 74_37 +1 known frame_shift_del c.130 p.M46fs 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 109 0 0 65 7 9.72222 NCKAP5L 0 genome.wustl.edu 37 12 50197796 50197796 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 50197796 50197796 C - DEL NCKAP5L ENST00000335999 human ensembl 74_37 -1 known frame_shift_del c.32 p.G11fs 0.001 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 85 0 0 65 5 7.14286 OR6C75 0 genome.wustl.edu 37 12 55759191 55759192 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 55759191 55759192 - T INS OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_ins c.297_298 p.I102fs 0.002:0.964 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 98 0 0 95 16 14.4144 DGKA 0 genome.wustl.edu 37 12 56347514 56347514 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 56347514 56347514 C - DEL DGKA ENST00000331886 human ensembl 74_37 +1 known frame_shift_del c.2170 p.R726fs 0.749 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 74 0 0 68 6 8.10811 SHMT2 0 genome.wustl.edu 37 12 57627077 57627077 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 57627077 57627077 G - DEL SHMT2 ENST00000328923 human ensembl 74_37 +1 known frame_shift_del c.972 p.G326fs 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 47 0 0 41 8 16.3265 MBD6 0 genome.wustl.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 57921401 57921401 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2194 p.Q734fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 115 0 0 79 15 15.9574 DTX3 0 genome.wustl.edu 37 12 58000970 58000970 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 58000970 58000970 G - DEL DTX3 ENST00000551632 human ensembl 74_37 +1 known frame_shift_del c.333 p.G113fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 29 0 0 29 4 12.1212 VWF 0 genome.wustl.edu 37 12 6153463 6153464 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 6153463 6153464 - G INS VWF ENST00000261405 human ensembl 74_37 -1 known frame_shift_ins c.2436_2435 p.M814fs 0.620:0.703 pirsf_VWF,pfam_TIL_dom,superfamily_TIL_dom 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 34 0 0 25 5 16.6667 TMEM19 0 genome.wustl.edu 37 12 72094768 72094768 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 72094768 72094768 G - DEL TMEM19 ENST00000266673 human ensembl 74_37 +1 known frame_shift_del c.1004 p.*337fs 0.149 NULL pfam_DUF92_TMEM19 - no_errors TMEM19 HGNC ENSG00000139291 232 0 0 170 29 14.5729 GLIPR1L2 0 genome.wustl.edu 37 12 75804255 75804255 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 75804255 75804255 A - DEL GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known frame_shift_del c.276 p.K94fs 0.726 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 113 0 0 94 10 9.61538 VEZT 0 genome.wustl.edu 37 12 95650969 95650969 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 12 95650969 95650969 T - DEL VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_del c.212 p.S74fs 0.065 NULL NULL - no_errors VEZT HGNC ENSG00000028203 19 0 0 30 5 14.2857 TUBA3C 0 genome.wustl.edu 37 13 19752522 19752522 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 19752522 19752522 G - DEL TUBA3C ENST00000400113 human ensembl 74_37 -1 known frame_shift_del c.239 p.T80fs 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 92 0 0 66 7 9.58904 MPHOSPH8 0 genome.wustl.edu 37 13 20220968 20220969 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 20220968 20220969 - A INS MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known frame_shift_ins c.755_756 p.E255fs 0.996:0.996 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 109 0 0 92 17 15.5963 SACS 0 genome.wustl.edu 37 13 23909127 23909127 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 23909127 23909127 A - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.8888 p.F2963fs 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 126 0 0 130 17 11.5646 ATP12A 0 genome.wustl.edu 37 13 25262563 25262564 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 25262563 25262564 - G INS ATP12A ENST00000218548 human ensembl 74_37 +1 known frame_shift_ins c.335_336 p.F115fs 1.000:1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 303 0 0 256 15 5.53506 PDS5B 0 genome.wustl.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 33344888 33344888 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161 p.N1390fs 0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 49 0 0 40 9 18.3673 EXOSC8 0 genome.wustl.edu 37 13 37581201 37581201 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 37581201 37581201 A - DEL EXOSC8 ENST00000389704 human ensembl 74_37 +1 known frame_shift_del c.480 p.N162fs 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC8 HGNC ENSG00000120699 54 0 0 42 7 14.2857 MRPS31 0 genome.wustl.edu 37 13 41341161 41341161 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 41341161 41341161 T - DEL MRPS31 ENST00000323563 human ensembl 74_37 -1 known frame_shift_del c.161 p.N54fs 0.484 NULL NULL - no_errors MRPS31 HGNC ENSG00000102738 44 0 0 40 6 13.0435 SUCLA2 0 genome.wustl.edu 37 13 48570982 48570982 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 48570982 48570982 T - DEL SUCLA2 ENST00000378654 human ensembl 74_37 -1 known frame_shift_del c.267 p.K89fs 1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLA2 HGNC ENSG00000136143 68 0 0 45 13 22.4138 SETDB2 0 genome.wustl.edu 37 13 50065970 50065970 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 50065970 50065970 A - DEL SETDB2 ENST00000317257 human ensembl 74_37 +1 known frame_shift_del c.2145 p.I718fs 0.859 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 57 0 0 66 15 18.5185 POU4F1 0 genome.wustl.edu 37 13 79175623 79175623 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 79175623 79175623 T - DEL POU4F1 ENST00000377208 human ensembl 74_37 -1 known frame_shift_del c.1187 p.K396fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 84 0 0 73 9 10.9756 PTMAP5 0 genome.wustl.edu 37 13 82265134 82265134 + RNA DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 82265134 82265134 T - DEL PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors PTMAP5 HGNC ENSG00000214182 40 0 0 34 8 19.0476 SLITRK1 0 genome.wustl.edu 37 13 84455509 84455509 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 13 84455509 84455509 T - DEL SLITRK1 ENST00000377084 human ensembl 74_37 -1 known frame_shift_del c.134 p.K45fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 104 0 0 90 10 10 DLK1 0 genome.wustl.edu 37 14 101200555 101200555 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 101200555 101200555 C - DEL DLK1 ENST00000341267 human ensembl 74_37 +1 known frame_shift_del c.474 p.P160fs 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 69 0 0 51 7 12.069 MIR543 0 genome.wustl.edu 37 14 101498347 101498347 + RNA DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 101498347 101498347 T - DEL MIR543 ENST00000390751 human ensembl 74_37 +1 known rna NULL NULL 0.956 - - - no_errors MIR543 HGNC ENSG00000212040 63 0 0 52 15 22.3881 BRF1 0 genome.wustl.edu 37 14 105692604 105692604 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 105692604 105692604 T - DEL BRF1 ENST00000546474 human ensembl 74_37 -1 known frame_shift_del c.939 p.K313fs 0.244 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 124 0 0 134 11 7.58621 BRF1 0 genome.wustl.edu 37 14 105693010 105693010 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 105693010 105693010 G - DEL BRF1 ENST00000546474 human ensembl 74_37 -1 known frame_shift_del c.876 p.S293fs 0.896 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 62 0 0 53 6 10.1695 RNU6-458P 0 genome.wustl.edu 37 14 19119596 19119596 + RNA DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 19119596 19119596 A - DEL RNU6-458P ENST00000384179 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RNU6-458P HGNC ENSG00000206906 8 0 0 4 3 42.8571 TOX4 0 genome.wustl.edu 37 14 21955823 21955823 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 21955823 21955823 G - DEL TOX4 ENST00000262709 human ensembl 74_37 +1 known frame_shift_del c.289 p.L99fs 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 72 0 0 61 5 7.57576 RBM23 0 genome.wustl.edu 37 14 23371030 23371030 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 23371030 23371030 G - DEL RBM23 ENST00000359890 human ensembl 74_37 -1 known frame_shift_del c.1309 p.Q437fs 1.000 tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM23 HGNC ENSG00000100461 215 0 0 163 25 13.2979 NYNRIN 0 genome.wustl.edu 37 14 24879247 24879247 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 24879247 24879247 G - DEL NYNRIN ENST00000382554 human ensembl 74_37 +1 known frame_shift_del c.2247 p.A751fs 0.035 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 30 0 0 23 6 20.6897 RALGAPA1 0 genome.wustl.edu 37 14 36194270 36194270 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 36194270 36194270 T - DEL RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known frame_shift_del c.1826 p.N609fs 0.969 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 87 0 0 80 13 13.9785 MIPOL1 0 genome.wustl.edu 37 14 37739702 37739703 + Frame_Shift_Del DEL AG AG - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 37739702 37739703 AG - DEL MIPOL1 ENST00000327441 human ensembl 74_37 +1 known frame_shift_del c.465_466 p.E156fs 0.999:1.000 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 44 0 0 67 7 9.45946 FANCM 0 genome.wustl.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 45645955 45645955 A - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.3998 p.V1336fs 0.008 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 76 0 0 88 13 12.8713 ATP5S 0 genome.wustl.edu 37 14 50788220 50788220 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 50788220 50788220 A - DEL ATP5S ENST00000311459 human ensembl 74_37 +1 known frame_shift_del c.60 p.I22fs 1.000 NULL NULL - no_errors ATP5S HGNC ENSG00000125375 63 0 0 71 11 13.4146 C14orf105 0 genome.wustl.edu 37 14 57960374 57960375 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 57960374 57960375 - T INS C14orf105 ENST00000216445 human ensembl 74_37 -1 known frame_shift_ins c.60_59 p.N20fs 0.992:0.989 NULL NULL - no_errors C14orf105 HGNC ENSG00000100557 53 0 0 56 6 9.67742 KIAA0586 0 genome.wustl.edu 37 14 59014534 59014534 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 59014534 59014534 C - DEL KIAA0586 ENST00000556134 human ensembl 74_37 +1 known frame_shift_del c.4486 p.P1497fs 0.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 89 0 0 70 11 13.5802 MNAT1 0 genome.wustl.edu 37 14 61201664 61201667 + Frame_Shift_Del DEL CACT CACT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CACT CACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 61201664 61201667 CACT - DEL MNAT1 ENST00000261245 human ensembl 74_37 +1 known frame_shift_del c.84_87 p.T29fs 1.000:1.000:1.000:0.996 pirsf_MAT1/Tfb3,smart_Znf_RING,pfscan_Znf_RING,tigrfam_MAT1/Tfb3 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3 - no_errors MNAT1 HGNC ENSG00000020426 94 0 0 59 7 10.6061 NRDE2 0 genome.wustl.edu 37 14 90759058 90759059 + Frame_Shift_Del DEL CA CA - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 90759058 90759059 CA - DEL NRDE2 ENST00000354366 human ensembl 74_37 -1 known frame_shift_del c.1825_1824 p.C608fs 1.000:1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 153 0 0 85 14 14.1414 GOLGA5 0 genome.wustl.edu 37 14 93273171 93273171 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 93273171 93273171 C - DEL GOLGA5 ENST00000163416 human ensembl 74_37 +1 known frame_shift_del c.635 p.P213fs 0.000 NULL pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 99 0 0 77 16 17.2043 BTBD7 0 genome.wustl.edu 37 14 93709015 93709015 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 93709015 93709015 T - DEL BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_del c.3003 p.K1001fs 0.998 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 159 0 0 122 27 18.1208 BTBD7 0 genome.wustl.edu 37 14 93760502 93760502 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 14 93760502 93760502 A - DEL BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_del c.864 p.R289fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 88 0 0 59 8 11.9403 SNHG14 0 genome.wustl.edu 37 15 25456859 25456859 + RNA DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 25456859 25456859 C - DEL SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 66 0 0 53 9 14.5161 AVEN 0 genome.wustl.edu 37 15 34159951 34159952 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 34159951 34159952 - C INS AVEN ENST00000306730 human ensembl 74_37 -1 known frame_shift_ins c.718_717 p.P239fs 0.000:0.001 NULL NULL - no_errors AVEN HGNC ENSG00000169857 77 0 0 53 7 11.6667 SPRED1 0 genome.wustl.edu 37 15 38614463 38614463 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 38614463 38614463 A - DEL SPRED1 ENST00000299084 human ensembl 74_37 +1 known frame_shift_del c.229 p.D79fs 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 95 0 0 99 11 10 MGA 0 genome.wustl.edu 37 15 42005394 42005395 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 42005394 42005395 - C INS MGA ENST00000219905 human ensembl 74_37 +1 known frame_shift_ins c.3130_3131 p.P1046fs 1.000:0.996 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 210 0 0 160 13 7.51445 TEX9 0 genome.wustl.edu 37 15 56719824 56719824 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 56719824 56719824 A - DEL TEX9 ENST00000352903 human ensembl 74_37 +1 known frame_shift_del c.985 p.I331fs 0.358 NULL NULL - no_errors TEX9 HGNC ENSG00000151575 43 0 0 43 7 14 NARG2 0 genome.wustl.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 63 0 0 39 8 17.0213 VPS13C 0 genome.wustl.edu 37 15 62182513 62182514 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 62182513 62182514 - A INS VPS13C ENST00000261517 human ensembl 74_37 -1 known frame_shift_ins c.9192_9191 p.T3065fs 1.000:1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 63 0 0 67 9 11.8421 FBXL22 0 genome.wustl.edu 37 15 63889654 63889656 + In_Frame_Del DEL CTC CTC - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 63889654 63889656 CTC - DEL FBXL22 ENST00000360587 human ensembl 74_37 +1 known in_frame_del c.63_65 p.S22in_frame_del 1.000:1.000:1.000 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXL22 HGNC ENSG00000197361 47 0 0 35 8 18.6047 HERC1 0 genome.wustl.edu 37 15 64005567 64005567 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 64005567 64005567 C - DEL HERC1 ENST00000443617 human ensembl 74_37 -1 known frame_shift_del c.4448 p.G1483fs 0.014 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 64 0 0 50 7 12.2807 SCAPER 0 genome.wustl.edu 37 15 76726491 76726492 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 15 76726491 76726492 - T INS SCAPER ENST00000324767 human ensembl 74_37 -1 known frame_shift_ins c.3239_3238 p.I1080fs 0.986:1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 117 0 0 85 20 19.0476 CLEC16A 0 genome.wustl.edu 37 16 11137920 11137920 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 11137920 11137920 T - DEL CLEC16A ENST00000409790 human ensembl 74_37 +1 known frame_shift_del c.1806 p.Y604fs 0.966 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 71 0 0 72 11 13.253 NTAN1 0 genome.wustl.edu 37 16 15131990 15131990 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 15131990 15131990 T - DEL NTAN1 ENST00000287706 human ensembl 74_37 -1 known frame_shift_del c.831 p.K277fs 0.819 NULL NULL - no_errors NTAN1 HGNC ENSG00000157045 83 0 0 68 15 18.0723 EME2 0 genome.wustl.edu 37 16 1825707 1825707 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 1825707 1825707 G - DEL EME2 ENST00000307394 human ensembl 74_37 +1 known frame_shift_del c.954 p.G320fs 0.005 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 81 0 0 39 8 17.0213 LOC81691 0 genome.wustl.edu 37 16 20844362 20844363 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 20844362 20844363 - T INS LOC81691 ENST00000261377 human ensembl 74_37 +1 known frame_shift_ins c.1300_1301 p.L436fs 0.994:0.996 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 98 0 0 76 6 7.31707 IL4R 0 genome.wustl.edu 37 16 27367135 27367135 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 27367135 27367135 G - DEL IL4R ENST00000170630 human ensembl 74_37 +1 known frame_shift_del c.677 p.E227fs 0.002 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 54 0 0 44 7 13.7255 GTF3C1 0 genome.wustl.edu 37 16 27489822 27489822 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 27489822 27489822 T - DEL GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_del c.4227 p.D1410fs 0.975 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 112 0 0 91 23 20.1754 HCFC1R1 0 genome.wustl.edu 37 16 3073266 3073266 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 3073266 3073266 G - DEL HCFC1R1 ENST00000248089 human ensembl 74_37 -1 known frame_shift_del c.249 p.M84fs 0.001 NULL NULL - no_errors HCFC1R1 HGNC ENSG00000103145 67 0 0 35 11 23.913 ZNF500 0 genome.wustl.edu 37 16 4802776 4802777 + Frame_Shift_Ins INS - - GT TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 4802776 4802777 - GT INS ZNF500 ENST00000219478 human ensembl 74_37 -1 known frame_shift_ins c.1044_1043 p.G349fs 0.000:0.974 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 84 0 0 61 14 18.6667 ENSG00000238645 0 genome.wustl.edu 37 16 53368533 53368533 + RNA DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 53368533 53368533 C - DEL ENSG00000238645 ENST00000459097 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors snoU13 RFAM ENSG00000238645 20 0 0 27 6 18.1818 CDH8 0 genome.wustl.edu 37 16 61687601 61687601 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 61687601 61687601 G - DEL CDH8 ENST00000577390 human ensembl 74_37 -1 known frame_shift_del c.2311 p.Q771fs 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 62 0 0 50 9 15.2542 DPEP3 0 genome.wustl.edu 37 16 68012210 68012210 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 68012210 68012210 C - DEL DPEP3 ENST00000268793 human ensembl 74_37 -1 known frame_shift_del c.721 p.V241fs 1.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 127 0 0 97 18 15.6522 WDR90 0 genome.wustl.edu 37 16 709102 709102 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 16 709102 709102 G - DEL WDR90 ENST00000549091 human ensembl 74_37 +1 novel frame_shift_del c.3028 p.A1011fs 0.000 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 44 0 0 26 4 13.3333 DNAH9 0 genome.wustl.edu 37 17 11711080 11711081 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 11711080 11711081 - G INS DNAH9 ENST00000262442 human ensembl 74_37 +1 known frame_shift_ins c.8452_8453 p.N2820fs 0.049:0.995 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 85 0 0 84 10 10.6383 SMG6 0 genome.wustl.edu 37 17 2203399 2203399 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 2203399 2203399 T - DEL SMG6 ENST00000263073 human ensembl 74_37 -1 known frame_shift_del c.648 p.G217fs 0.964 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 178 0 0 166 9 5.14286 NEK8 0 genome.wustl.edu 37 17 27068996 27068996 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 27068996 27068996 C - DEL NEK8 ENST00000268766 human ensembl 74_37 +1 known frame_shift_del c.2070 p.*693fs 0.001 NULL pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 90 0 0 67 8 10.6667 PHF12 0 genome.wustl.edu 37 17 27233908 27233909 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 27233908 27233909 - G INS PHF12 ENST00000332830 human ensembl 74_37 -1 known frame_shift_ins c.2646_2645 p.S883fs 0.990:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 104 0 0 68 10 12.8205 RAP1GAP2 0 genome.wustl.edu 37 17 2867323 2867323 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 2867323 2867323 G - DEL RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known frame_shift_del c.453 p.G152fs 0.926 NULL pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 84 0 0 61 8 11.5942 ATAD5 0 genome.wustl.edu 37 17 29196630 29196630 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 29196630 29196630 T - DEL ATAD5 ENST00000321990 human ensembl 74_37 +1 known frame_shift_del c.3573 p.F1193fs 0.733 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 120 0 0 96 20 17.2414 MYO19 0 genome.wustl.edu 37 17 34862341 34862341 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 34862341 34862341 G - DEL MYO19 ENST00000431794 human ensembl 74_37 -1 known frame_shift_del c.1751 p.P584fs 0.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 81 0 0 67 7 9.45946 MSL1 0 genome.wustl.edu 37 17 38282534 38282535 + Frame_Shift_Del DEL AG AG - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 38282534 38282535 AG - DEL MSL1 ENST00000398532 human ensembl 74_37 +1 known frame_shift_del c.867_868 p.E292fs 1.000:1.000 NULL NULL - no_errors MSL1 HGNC ENSG00000188895 116 0 0 103 16 13.4454 ACLY 0 genome.wustl.edu 37 17 40028081 40028082 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 40028081 40028082 - C INS ACLY ENST00000352035 human ensembl 74_37 -1 known frame_shift_ins c.2798_2797 p.D933fs 1.000:1.000 pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 62 0 0 28 6 17.6471 STAT5B 0 genome.wustl.edu 37 17 40362447 40362447 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 40362447 40362447 T - DEL STAT5B ENST00000293328 human ensembl 74_37 -1 known frame_shift_del c.1749 p.K583fs 0.969 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 121 0 0 109 20 15.5039 CYB5D2 0 genome.wustl.edu 37 17 4060253 4060253 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 4060253 4060253 C - DEL CYB5D2 ENST00000301391 human ensembl 74_37 +1 known frame_shift_del c.672 p.P226fs 0.934 NULL pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors CYB5D2 HGNC ENSG00000167740 44 0 0 32 5 13.5135 NFE2L1 0 genome.wustl.edu 37 17 46135788 46135788 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 46135788 46135788 G - DEL NFE2L1 ENST00000362042 human ensembl 74_37 +1 known frame_shift_del c.1104 p.G370fs 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 87 0 0 62 8 11.4286 CHAD 0 genome.wustl.edu 37 17 48545752 48545752 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 48545752 48545752 C - DEL CHAD ENST00000258969 human ensembl 74_37 -1 known frame_shift_del c.423 p.L142fs 0.833 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHAD HGNC ENSG00000136457 28 0 0 27 4 12.9032 USP6 0 genome.wustl.edu 37 17 5072211 5072211 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 5072211 5072211 G - DEL USP6 ENST00000250066 human ensembl 74_37 +1 known frame_shift_del c.3378 p.D1128fs 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 165 0 0 146 11 7.00637 ANKFN1 0 genome.wustl.edu 37 17 54428181 54428181 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 54428181 54428181 A - DEL ANKFN1 ENST00000318698 human ensembl 74_37 +1 known frame_shift_del c.252 p.K86fs 0.976 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 117 0 0 106 26 19.697 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 88 0 0 50 7 12.2807 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 74 0 0 81 9 10 VMP1 0 genome.wustl.edu 37 17 57889086 57889087 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 57889086 57889087 - T INS VMP1 ENST00000262291 human ensembl 74_37 +1 known frame_shift_ins c.851_852 p.W286fs 1.000:1.000 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 121 0 0 115 15 11.5385 TBX2 0 genome.wustl.edu 37 17 59479234 59479234 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 59479234 59479234 G - DEL TBX2 ENST00000240328 human ensembl 74_37 +1 novel frame_shift_del c.585 p.E197fs 0.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 65 0 0 49 4 7.54717 MAP3K3 0 genome.wustl.edu 37 17 61759155 61759155 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 61759155 61759155 C - DEL MAP3K3 ENST00000361357 human ensembl 74_37 +1 known frame_shift_del c.625 p.P210fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,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 MAP3K3 HGNC ENSG00000198909 127 0 0 96 10 9.43396 CEP112 0 genome.wustl.edu 37 17 64059082 64059082 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 64059082 64059082 T - DEL CEP112 ENST00000392769 human ensembl 74_37 -1 known frame_shift_del c.1073 p.K358fs 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 76 0 0 83 13 13.5417 FXR2 0 genome.wustl.edu 37 17 7496122 7496122 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 7496122 7496122 G - DEL FXR2 ENST00000250113 human ensembl 74_37 -1 known frame_shift_del c.1619 p.P540fs 1.000 NULL 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 27 0 0 17 11 39.2857 EFNB3 0 genome.wustl.edu 37 17 7612532 7612532 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 17 7612532 7612532 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.661 p.P222fs 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 40 0 0 45 5 10 USP14 0 genome.wustl.edu 37 18 203145 203146 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 203145 203146 - T INS USP14 ENST00000261601 human ensembl 74_37 +1 known frame_shift_ins c.990_991 p.Y332fs 0.999:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 90 0 0 108 6 5.26316 SMCHD1 0 genome.wustl.edu 37 18 2706440 2706440 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 2706440 2706440 A - DEL SMCHD1 ENST00000320876 human ensembl 74_37 +1 known frame_shift_del c.2035 p.K680fs 0.880 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 17 0 0 29 6 17.1429 MYOM1 0 genome.wustl.edu 37 18 3142040 3142040 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 3142040 3142040 G - DEL MYOM1 ENST00000356443 human ensembl 74_37 -1 known frame_shift_del c.1922 p.P641fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 78 0 0 73 8 9.87654 MYOM1 0 genome.wustl.edu 37 18 3154953 3154953 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 3154953 3154953 A - DEL MYOM1 ENST00000356443 human ensembl 74_37 -1 known frame_shift_del c.1635 p.F545fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 33 0 0 45 5 10 GALNT1 0 genome.wustl.edu 37 18 33234733 33234733 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 33234733 33234733 A - DEL GALNT1 ENST00000269195 human ensembl 74_37 +1 known frame_shift_del c.107 p.K38fs 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC ENSG00000141429 51 0 0 79 9 10.2273 GALNT1 0 genome.wustl.edu 37 18 33243635 33243635 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 33243635 33243635 G - DEL GALNT1 ENST00000269195 human ensembl 74_37 +1 known frame_shift_del c.183 p.K63fs 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC ENSG00000141429 82 0 0 72 12 14.2857 DCC 0 genome.wustl.edu 37 18 50734091 50734091 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 50734091 50734091 A - DEL DCC ENST00000442544 human ensembl 74_37 +1 known frame_shift_del c.1765 p.K590fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 79 0 0 89 7 7.29167 ZBTB14 0 genome.wustl.edu 37 18 5291776 5291779 + Frame_Shift_Del DEL TACT TACT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 TACT TACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 5291776 5291779 TACT - DEL ZBTB14 ENST00000357006 human ensembl 74_37 -1 known frame_shift_del c.431_428 p.K143fs 1.000:1.000:1.000:1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB14 HGNC ENSG00000198081 185 0 0 152 10 6.17284 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 94 0 0 72 16 18.1818 CDH19 0 genome.wustl.edu 37 18 64172527 64172527 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 64172527 64172527 A - DEL CDH19 ENST00000262150 human ensembl 74_37 -1 known frame_shift_del c.1841 p.L614fs 0.336 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 111 0 0 98 20 16.9492 LAMA1 0 genome.wustl.edu 37 18 6942222 6942222 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 6942222 6942222 T - DEL LAMA1 ENST00000389658 human ensembl 74_37 -1 known frame_shift_del c.9084 p.K3028fs 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 59 0 0 52 7 11.8644 LAMA1 0 genome.wustl.edu 37 18 7038885 7038885 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 18 7038885 7038885 T - DEL LAMA1 ENST00000389658 human ensembl 74_37 -1 known frame_shift_del c.1487 p.N496fs 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 95 0 0 87 8 8.42105 TYK2 0 genome.wustl.edu 37 19 10468575 10468575 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 10468575 10468575 G - DEL TYK2 ENST00000264818 human ensembl 74_37 -1 known frame_shift_del c.2331 p.W778fs 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 45 0 0 27 3 10 IL27RA 0 genome.wustl.edu 37 19 14150577 14150577 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 14150577 14150577 C - DEL IL27RA ENST00000263379 human ensembl 74_37 +1 known frame_shift_del c.389 p.R132fs 0.008 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 59 0 0 54 7 11.4754 AKAP8L 0 genome.wustl.edu 37 19 15491400 15491402 + In_Frame_Del DEL CTT CTT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 15491400 15491402 CTT - DEL AKAP8L ENST00000397410 human ensembl 74_37 -1 known in_frame_del c.1560_1558 p.K520in_frame_del 1.000:1.000:1.000 pfam_AKAP95 pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 56 0 0 51 7 12.069 TMEM38A 0 genome.wustl.edu 37 19 16790890 16790890 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 16790890 16790890 G - DEL TMEM38A ENST00000187762 human ensembl 74_37 +1 known frame_shift_del c.220 p.E75fs 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 51 0 0 44 7 13.7255 NCAN 0 genome.wustl.edu 37 19 19338279 19338279 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 19338279 19338279 C - DEL NCAN ENST00000252575 human ensembl 74_37 +1 known frame_shift_del c.1850 p.W619fs 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 28 0 0 32 7 17.9487 ZNF506 0 genome.wustl.edu 37 19 19916883 19916883 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 19916883 19916883 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.183 p.K61fs 0.125 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 ZNF506 HGNC ENSG00000081665 139 0 0 133 8 5.67376 ZNF66 0 genome.wustl.edu 37 19 20988745 20988745 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 20988745 20988745 A - DEL ZNF66 ENST00000344519 human ensembl 74_37 +1 known frame_shift_del c.339 p.G116fs 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 ZNF66 HGNC ENSG00000160229 72 0 0 47 14 22.9508 ENSG00000268555 0 genome.wustl.edu 37 19 21753653 21753653 + RNA DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 21753653 21753653 G - DEL ENSG00000268555 ENST00000596996 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-678G14.3 Clone_based_vega_gene ENSG00000268555 10 0 0 3 2 40 HNRNPL 0 genome.wustl.edu 37 19 39330959 39330959 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 39330959 39330959 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 8 0 0 6 2 25 BCKDHA 0 genome.wustl.edu 37 19 41919965 41919967 + In_Frame_Del DEL CTT CTT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 41919965 41919967 CTT - DEL BCKDHA ENST00000595085 human ensembl 74_37 +1 known in_frame_del c.489_491 p.F164in_frame_del 1.000:1.000:1.000 pfam_DH_E1 pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 55 0 0 35 10 22.2222 ZNF223 0 genome.wustl.edu 37 19 44571321 44571321 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 44571321 44571321 A - DEL ZNF223 ENST00000591793 human ensembl 74_37 +1 known frame_shift_del c.1670 p.N559fs 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 133 0 0 168 13 7.18232 NTN5 0 genome.wustl.edu 37 19 49173894 49173894 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 49173894 49173894 C - DEL NTN5 ENST00000270235 human ensembl 74_37 -1 known frame_shift_del c.350 p.G117fs 0.924 NULL pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Netrin_domain - no_errors NTN5 HGNC ENSG00000142233 9 0 0 3 2 40 IZUMO1 0 genome.wustl.edu 37 19 49244679 49244679 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 49244679 49244679 C - DEL IZUMO1 ENST00000332955 human ensembl 74_37 -1 known frame_shift_del c.811 p.E271fs 0.000 NULL NULL - no_errors IZUMO1 HGNC ENSG00000182264 81 0 0 46 8 14.8148 CGB2 0 genome.wustl.edu 37 19 49536341 49536341 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 49536341 49536341 G - DEL CGB2 ENST00000359342 human ensembl 74_37 +1 known frame_shift_del c.355 p.G120fs 0.999 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB2 HGNC ENSG00000104818 86 0 0 57 3 5 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 109 0 0 78 35 30.9735 PIH1D1 0 genome.wustl.edu 37 19 49950611 49950612 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 49950611 49950612 - G INS PIH1D1 ENST00000262265 human ensembl 74_37 -1 known frame_shift_ins c.595_594 p.G198fs 0.000:0.000 NULL pfam_PIH - no_errors PIH1D1 HGNC ENSG00000104872 51 0 0 51 9 15 PTPRS 0 genome.wustl.edu 37 19 5231449 5231449 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 5231449 5231449 G - DEL PTPRS ENST00000372412 human ensembl 74_37 -1 known frame_shift_del c.2030 p.P677fs 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 32 0 0 20 5 20 MBOAT7 0 genome.wustl.edu 37 19 54678002 54678002 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 19 54678002 54678002 C - DEL MBOAT7 ENST00000245615 human ensembl 74_37 -1 known frame_shift_del c.1155 p.R386fs 0.033 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 77 0 0 57 7 10.9375 SEPT10 0 genome.wustl.edu 37 2 110301828 110301828 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 110301828 110301828 T - DEL SEPT10 ENST00000356688 human ensembl 74_37 -1 putative frame_shift_del c.1506 p.K502fs 0.004 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT10 HGNC ENSG00000186522 40 0 0 47 7 12.963 NPHP1 0 genome.wustl.edu 37 2 110926098 110926098 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 110926098 110926098 T - DEL NPHP1 ENST00000316534 human ensembl 74_37 -1 known frame_shift_del c.555 p.K185fs 0.398 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 109 0 0 115 13 10.1562 ANAPC1 0 genome.wustl.edu 37 2 112582738 112582739 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 112582738 112582739 - G INS ANAPC1 ENST00000341068 human ensembl 74_37 -1 known frame_shift_ins c.2711_2710 p.Q904fs 0.026:0.027 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 168 0 0 141 12 7.84314 UGGT1 0 genome.wustl.edu 37 2 128867265 128867267 + In_Frame_Del DEL AAG AAG - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 128867265 128867267 AAG - DEL UGGT1 ENST00000259253 human ensembl 74_37 +1 known in_frame_del c.466_468 p.K157in_frame_del 0.971:0.996:1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 127 0 0 110 14 11.2903 UBXN4 0 genome.wustl.edu 37 2 136540365 136540365 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 136540365 136540365 A - DEL UBXN4 ENST00000272638 human ensembl 74_37 +1 known frame_shift_del c.1435 p.K480fs 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 218 0 0 235 35 12.963 CCDC148 0 genome.wustl.edu 37 2 159107284 159107284 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 159107284 159107284 T - DEL CCDC148 ENST00000283233 human ensembl 74_37 -1 known frame_shift_del c.1251 p.I418fs 0.032 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 11 0 0 7 4 36.3636 PLA2R1 0 genome.wustl.edu 37 2 160801442 160801442 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 160801442 160801442 T - DEL PLA2R1 ENST00000283243 human ensembl 74_37 -1 known frame_shift_del c.4119 p.G1374fs 0.396 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 144 0 0 130 21 13.9073 IFIH1 0 genome.wustl.edu 37 2 163134715 163134716 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 163134715 163134716 - T INS IFIH1 ENST00000263642 human ensembl 74_37 -1 known frame_shift_ins c.1765_1764 p.A588fs 1.000:1.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 66 0 0 61 9 12.8571 FIGN 0 genome.wustl.edu 37 2 164468131 164468132 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 164468131 164468132 - T INS FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_ins c.211_210 p.Y70fs 1.000:0.998 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 162 0 0 117 20 14.5985 GRB14 0 genome.wustl.edu 37 2 165365288 165365288 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 165365288 165365288 T - DEL GRB14 ENST00000263915 human ensembl 74_37 -1 known frame_shift_del c.891 p.K297fs 0.015 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 GRB14 HGNC ENSG00000115290 126 0 0 93 34 26.7717 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 39 0 0 32 14 30.4348 DHRS9 0 genome.wustl.edu 37 2 169948389 169948389 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 169948389 169948389 A - DEL DHRS9 ENST00000432060 human ensembl 74_37 +1 known frame_shift_del c.842 p.K283fs 0.158 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 61 0 0 49 9 15.5172 DHRS9 0 genome.wustl.edu 37 2 169952169 169952169 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 169952169 169952169 A - DEL DHRS9 ENST00000432060 human ensembl 74_37 +1 known frame_shift_del c.1032 p.D346fs 0.401 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 173 0 0 149 24 13.8728 PDK1 0 genome.wustl.edu 37 2 173435501 173435501 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 173435501 173435501 C - DEL PDK1 ENST00000282077 human ensembl 74_37 +1 known frame_shift_del c.894 p.P300fs 0.989 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK1 HGNC ENSG00000152256 80 0 0 74 8 9.7561 GPR155 0 genome.wustl.edu 37 2 175346265 175346265 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 175346265 175346265 A - DEL GPR155 ENST00000295500 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_Auxin_eff pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 280 0 0 264 45 14.5631 RAD51AP2 0 genome.wustl.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 17698737 17698737 T - DEL RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_del c.946 p.T316fs 0.003 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 64 0 0 56 8 12.5 HOXD8 0 genome.wustl.edu 37 2 176995458 176995458 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 176995458 176995458 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.364 p.C124fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 74 0 0 51 9 15 CCDC141 0 genome.wustl.edu 37 2 179720989 179720989 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 179720989 179720989 T - DEL CCDC141 ENST00000420890 human ensembl 74_37 -1 known frame_shift_del c.2860 p.M954fs 0.996 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 111 0 0 113 14 11.0236 DNAH7 0 genome.wustl.edu 37 2 196788373 196788374 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 196788373 196788374 - T INS DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_ins c.3771_3770 p.N1257fs 0.000:0.000 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 91 0 0 88 8 8.33333 HECW2 0 genome.wustl.edu 37 2 197171263 197171263 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 197171263 197171263 G - DEL HECW2 ENST00000260983 human ensembl 74_37 -1 known frame_shift_del c.2763 p.V922fs 0.105 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 111 0 0 87 14 13.8614 CLK1 0 genome.wustl.edu 37 2 201722550 201722550 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 201722550 201722550 A - DEL CLK1 ENST00000321356 human ensembl 74_37 -1 known frame_shift_del c.723 p.F241fs 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 CLK1 HGNC ENSG00000013441 109 0 0 90 17 15.8879 ORC2 0 genome.wustl.edu 37 2 201822217 201822217 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 201822217 201822217 T - DEL ORC2 ENST00000234296 human ensembl 74_37 -1 known frame_shift_del c.145 p.I49fs 0.998 NULL pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 71 0 0 46 10 17.8571 ALS2CR11 0 genome.wustl.edu 37 2 202352566 202352566 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 202352566 202352566 T - DEL ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known frame_shift_del c.1641 p.V548fs 0.040 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 168 0 0 128 16 11.1111 ALS2 0 genome.wustl.edu 37 2 202591522 202591522 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 202591522 202591522 G - DEL ALS2 ENST00000264276 human ensembl 74_37 -1 known frame_shift_del c.3047 p.P1016fs 0.039 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 63 0 0 44 5 10.2041 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 71 0 0 48 11 18.6441 MAP2 0 genome.wustl.edu 37 2 210545527 210545528 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 210545527 210545528 - A INS MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_ins c.430_431 p.Q145fs 1.000:1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 302 0 0 280 23 7.59076 MAP2 0 genome.wustl.edu 37 2 210561666 210561667 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 210561666 210561667 - A INS MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_ins c.4413_4414 p.T1473fs 1.000:1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 51 0 0 48 12 20 KANSL1L 0 genome.wustl.edu 37 2 210993786 210993789 + Frame_Shift_Del DEL GTTA GTTA - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 GTTA GTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 210993786 210993789 GTTA - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.1199_1196 p.L399fs 1.000:1.000:0.998:1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 164 0 0 140 20 12.5 RQCD1 0 genome.wustl.edu 37 2 219449364 219449364 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 219449364 219449364 T - DEL RQCD1 ENST00000509807 human ensembl 74_37 +1 known frame_shift_del c.350 p.L119fs 1.000 pfam_Rcd1,superfamily_ARM-type_fold pfam_Rcd1,superfamily_ARM-type_fold - no_errors RQCD1 HGNC ENSG00000144580 210 0 0 197 30 13.2159 CCDC108 0 genome.wustl.edu 37 2 219892999 219892999 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 219892999 219892999 G - DEL CCDC108 ENST00000341552 human ensembl 74_37 -1 known frame_shift_del c.1775 p.P592fs 0.993 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 48 0 0 38 9 19.1489 INPP5D 0 genome.wustl.edu 37 2 234072474 234072474 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 234072474 234072474 C - DEL INPP5D ENST00000359570 human ensembl 74_37 +1 known frame_shift_del c.1326 p.L444fs 0.998 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 92 0 0 80 10 11.1111 DGKD 0 genome.wustl.edu 37 2 234299106 234299106 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 234299106 234299106 A - DEL DGKD ENST00000264057 human ensembl 74_37 +1 known frame_shift_del c.325 p.N110fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 94 0 0 53 4 7.01754 PASK 0 genome.wustl.edu 37 2 242046054 242046054 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 242046054 242046054 C - DEL PASK ENST00000358649 human ensembl 74_37 -1 known frame_shift_del c.3920 p.G1307fs 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 110 0 0 97 10 9.34579 GTF3C2 0 genome.wustl.edu 37 2 27559091 27559092 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 27559091 27559092 - C INS GTF3C2 ENST00000264720 human ensembl 74_37 -1 known frame_shift_ins c.1329_1328 p.L444fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 110 0 0 88 10 10.2041 BIRC6 0 genome.wustl.edu 37 2 32768566 32768568 + In_Frame_Del DEL CTT CTT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 32768566 32768568 CTT - DEL BIRC6 ENST00000421745 human ensembl 74_37 +1 known in_frame_del c.12550_12552 p.L4185in_frame_del 1.000:1.000:1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 119 0 0 109 13 10.6557 CCDC88A 0 genome.wustl.edu 37 2 55544436 55544436 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 55544436 55544436 T - DEL CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_del c.3652 p.M1218fs 0.990 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 65 0 0 53 9 14.5161 USP34 0 genome.wustl.edu 37 2 61633020 61633020 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 61633020 61633020 T - DEL USP34 ENST00000398571 human ensembl 74_37 -1 known frame_shift_del c.375 p.K125fs 0.935 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 64 0 0 65 18 21.6867 EHBP1 0 genome.wustl.edu 37 2 62991424 62991424 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 62991424 62991424 A - DEL EHBP1 ENST00000263991 human ensembl 74_37 +1 known frame_shift_del c.186 p.N64fs 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 95 0 0 82 17 17.1717 PPP3R1 0 genome.wustl.edu 37 2 68408114 68408114 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 68408114 68408114 T - DEL PPP3R1 ENST00000234310 human ensembl 74_37 -1 known frame_shift_del c.494 p.K165fs 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors PPP3R1 HGNC ENSG00000221823 36 0 0 34 7 17.0732 ZNF638 0 genome.wustl.edu 37 2 71649954 71649954 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 71649954 71649954 A - DEL ZNF638 ENST00000264447 human ensembl 74_37 +1 known frame_shift_del c.3310 p.N1105fs 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 75 0 0 74 8 9.7561 ALMS1 0 genome.wustl.edu 37 2 73651726 73651726 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 73651726 73651726 T - DEL ALMS1 ENST00000264448 human ensembl 74_37 +1 known frame_shift_del c.933 p.L313fs 0.007 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 43 0 0 31 6 16.2162 SLC4A5 0 genome.wustl.edu 37 2 74451994 74451994 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 74451994 74451994 T - DEL SLC4A5 ENST00000357822 human ensembl 74_37 -1 known frame_shift_del c.3267 p.A1091fs 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 140 0 0 121 15 11.0294 STARD7 0 genome.wustl.edu 37 2 96859067 96859067 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 96859067 96859067 T - DEL STARD7 ENST00000337288 human ensembl 74_37 -1 known frame_shift_del c.573 p.K191fs 1.000 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 STARD7 HGNC ENSG00000084090 190 0 0 138 17 10.9677 FAHD2B 0 genome.wustl.edu 37 2 97749725 97749725 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 97749725 97749725 G - DEL FAHD2B ENST00000272610 human ensembl 74_37 -1 known frame_shift_del c.842 p.P281fs 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 33 0 0 17 4 19.0476 MITD1 0 genome.wustl.edu 37 2 99785865 99785865 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 2 99785865 99785865 A - DEL MITD1 ENST00000289359 human ensembl 74_37 -1 known frame_shift_del c.723 p.H242fs 1.000 NULL pfam_MIT,smart_MIT - no_errors MITD1 HGNC ENSG00000158411 62 0 0 55 8 12.6984 ESF1 0 genome.wustl.edu 37 20 13763275 13763275 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 13763275 13763275 T - DEL ESF1 ENST00000202816 human ensembl 74_37 -1 known frame_shift_del c.512 p.N171fs 0.076 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 54 0 0 57 12 17.3913 PYGB 0 genome.wustl.edu 37 20 25260916 25260918 + In_Frame_Del DEL GAA GAA - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 25260916 25260918 GAA - DEL PYGB ENST00000216962 human ensembl 74_37 +1 known in_frame_del c.1107_1109 p.K371in_frame_del 1.000:1.000:1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 71 0 0 84 9 9.67742 GINS1 0 genome.wustl.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 25422397 25422397 A - DEL GINS1 ENST00000262460 human ensembl 74_37 +1 known frame_shift_del c.507 p.N172fs 0.232 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 72 0 0 82 8 8.88889 ZNF341 0 genome.wustl.edu 37 20 32344991 32344991 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 32344991 32344991 C - DEL ZNF341 ENST00000375200 human ensembl 74_37 +1 known frame_shift_del c.779 p.T262fs 0.551 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 231 0 0 229 23 9.12698 RPRD1B 0 genome.wustl.edu 37 20 36694647 36694647 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 36694647 36694647 A - DEL RPRD1B ENST00000373433 human ensembl 74_37 +1 known frame_shift_del c.820 p.K275fs 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors RPRD1B HGNC ENSG00000101413 124 0 0 107 26 19.5489 SALL4 0 genome.wustl.edu 37 20 50400983 50400983 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 50400983 50400983 C - DEL SALL4 ENST00000217086 human ensembl 74_37 -1 known frame_shift_del c.2983 p.V995fs 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 59 0 0 57 21 26.9231 CYP24A1 0 genome.wustl.edu 37 20 52775519 52775519 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 52775519 52775519 T - DEL CYP24A1 ENST00000216862 human ensembl 74_37 -1 known frame_shift_del c.1134 p.A379fs 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_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 142 0 0 142 12 7.79221 SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 50 0 0 47 7 12.963 PCMTD2 0 genome.wustl.edu 37 20 62895852 62895854 + In_Frame_Del DEL CTT CTT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 62895852 62895854 CTT - DEL PCMTD2 ENST00000308824 human ensembl 74_37 +1 known in_frame_del c.378_380 p.F128in_frame_del 1.000:0.998:0.999 pfam_PCMT pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 74 0 0 69 8 10.3896 PLCB4 0 genome.wustl.edu 37 20 9353043 9353043 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 20 9353043 9353043 A - DEL PLCB4 ENST00000334005 human ensembl 74_37 +1 known frame_shift_del c.679 p.I229fs 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 42 0 0 57 5 8.06452 NRIP1 0 genome.wustl.edu 37 21 16338330 16338330 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 16338330 16338330 T - DEL NRIP1 ENST00000318948 human ensembl 74_37 -1 known frame_shift_del c.2184 p.E729fs 0.998 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 79 0 0 48 11 18.6441 USP25 0 genome.wustl.edu 37 21 17191019 17191019 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 17191019 17191019 A - DEL USP25 ENST00000400183 human ensembl 74_37 +1 known frame_shift_del c.934 p.K313fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 89 0 0 72 8 10 PRDM15 0 genome.wustl.edu 37 21 43274764 43274764 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 43274764 43274764 G - DEL PRDM15 ENST00000269844 human ensembl 74_37 -1 known frame_shift_del c.1547 p.P516fs 0.470 pfscan_SET_dom pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 72 0 0 70 7 9.09091 DIP2A 0 genome.wustl.edu 37 21 47975905 47975905 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 21 47975905 47975905 A - DEL DIP2A ENST00000318711 human ensembl 74_37 +1 known frame_shift_del c.3402 p.K1136fs 0.519 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 126 0 0 132 18 12 SMARCB1 0 genome.wustl.edu 37 22 24134057 24134057 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 24134057 24134057 A - DEL SMARCB1 ENST00000263121 human ensembl 74_37 +1 known frame_shift_del c.208 p.T72fs 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 125 0 0 104 6 5.45455 CRYBB1 0 genome.wustl.edu 37 22 26997913 26997913 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 26997913 26997913 C - DEL CRYBB1 ENST00000215939 human ensembl 74_37 -1 known frame_shift_del c.505 p.D169fs 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 56 0 0 46 4 8 LOC101929539 0 genome.wustl.edu 37 22 27256832 27256832 + RNA DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 27256832 27256832 T - DEL LOC101929539 ENST00000434868 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors RP1-90L6.2 Clone_based_vega_gene ENSG00000223704 8 0 0 4 2 33.3333 ZNRF3 0 genome.wustl.edu 37 22 29383158 29383159 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 29383158 29383159 - C INS ZNRF3 ENST00000544604 human ensembl 74_37 +1 known frame_shift_ins c.395_396 p.K134fs 1.000:1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 64 0 0 57 5 8.06452 PLA2G3 0 genome.wustl.edu 37 22 31536298 31536299 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 31536298 31536299 - A INS PLA2G3 ENST00000215885 human ensembl 74_37 -1 known frame_shift_ins c.43_42 p.G14fs 0.273:0.264 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 43 0 0 32 9 21.9512 MB 0 genome.wustl.edu 37 22 36003418 36003418 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 22 36003418 36003418 C - DEL MB ENST00000359787 human ensembl 74_37 -1 known frame_shift_del c.391 p.A131fs 0.990 superfamily_Globin-like,pfscan_Globin,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin - no_errors MB HGNC ENSG00000198125 70 0 0 58 7 10.7692 FANCD2 0 genome.wustl.edu 37 3 10119789 10119789 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 10119789 10119789 C - DEL FANCD2 ENST00000287647 human ensembl 74_37 +1 known frame_shift_del c.2884 p.P963fs 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 141 0 0 144 25 14.7929 ALCAM 0 genome.wustl.edu 37 3 105250904 105250904 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 105250904 105250904 A - DEL ALCAM ENST00000306107 human ensembl 74_37 +1 known frame_shift_del c.453 p.K153fs 0.891 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 249 0 0 189 29 13.3028 MORC1 0 genome.wustl.edu 37 3 108682419 108682419 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 108682419 108682419 T - DEL MORC1 ENST00000232603 human ensembl 74_37 -1 known frame_shift_del c.2641 p.I881fs 0.062 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 68 0 0 37 14 27.451 POGLUT1 0 genome.wustl.edu 37 3 119209446 119209448 + In_Frame_Del DEL CCT CCT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 119209446 119209448 CCT - DEL POGLUT1 ENST00000295588 human ensembl 74_37 +1 known in_frame_del c.846_848 p.L283in_frame_del 1.000:1.000:1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 115 0 0 94 22 18.9655 POLQ 0 genome.wustl.edu 37 3 121238922 121238925 + Frame_Shift_Del DEL AAGT AAGT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 121238922 121238925 AAGT - DEL POLQ ENST00000264233 human ensembl 74_37 -1 known frame_shift_del c.1264_1261 p.T421fs 1.000:0.847:1.000:1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 109 0 0 57 7 10.9375 CCDC37 0 genome.wustl.edu 37 3 126155213 126155215 + In_Frame_Del DEL AGG AGG - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 126155213 126155215 AGG - DEL CCDC37 ENST00000393425 human ensembl 74_37 +1 known in_frame_del c.1805_1807 p.E606in_frame_del 0.974:0.968:0.975 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 38 0 0 23 6 20.6897 IL20RB 0 genome.wustl.edu 37 3 136710803 136710804 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 136710803 136710804 - G INS IL20RB ENST00000329582 human ensembl 74_37 +1 known frame_shift_ins c.555_556 p.I187fs 0.004:0.006 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 93 0 0 74 7 8.64198 XRN1 0 genome.wustl.edu 37 3 142030642 142030643 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 142030642 142030643 - T INS XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_ins c.4832_4831 p.R1611fs 0.998:1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 76 0 0 84 12 12.5 ATR 0 genome.wustl.edu 37 3 142261555 142261555 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 142261555 142261555 A - DEL ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_del c.3402 p.F1134fs 1.000 pfam_UME,superfamily_ARM-type_fold,smart_UME pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 46 0 0 35 6 14.6341 NR2C2 0 genome.wustl.edu 37 3 15084406 15084406 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 53 0 0 52 7 11.8644 GPR171 0 genome.wustl.edu 37 3 150917110 150917110 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 150917110 150917110 A - DEL GPR171 ENST00000309180 human ensembl 74_37 -1 known frame_shift_del c.64 p.Y22fs 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR171 HGNC ENSG00000174946 89 0 0 78 15 16.129 METTL6 0 genome.wustl.edu 37 3 15455535 15455535 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 15455535 15455535 A - DEL METTL6 ENST00000383790 human ensembl 74_37 -1 known frame_shift_del c.666 p.F222fs 0.912 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_MeTrfase - no_errors METTL6 HGNC ENSG00000206562 77 0 0 53 11 17.1875 VEPH1 0 genome.wustl.edu 37 3 157178127 157178128 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 157178127 157178128 - G INS VEPH1 ENST00000362010 human ensembl 74_37 -1 known frame_shift_ins c.372_371 p.V125fs 0.251:0.996 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 67 0 0 51 8 13.5593 MFI2 0 genome.wustl.edu 37 3 196751266 196751266 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 196751266 196751266 G - DEL MFI2 ENST00000296350 human ensembl 74_37 -1 known frame_shift_del c.395 p.T132fs 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 61 0 0 37 8 17.7778 ANO10 0 genome.wustl.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 43647213 43647213 T - DEL ANO10 ENST00000292246 human ensembl 74_37 -1 known frame_shift_del c.132 p.D45fs 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 89 0 0 94 18 16.0714 LIMD1 0 genome.wustl.edu 37 3 45637325 45637325 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 45637325 45637325 G - DEL LIMD1 ENST00000273317 human ensembl 74_37 +1 known frame_shift_del c.954 p.G320fs 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 72 0 0 75 12 13.7931 RBM6 0 genome.wustl.edu 37 3 50098576 50098576 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 50098576 50098576 A - DEL RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_del c.2275 p.K760fs 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 70 0 0 54 11 16.9231 MAPKAPK3 0 genome.wustl.edu 37 3 50684208 50684209 + Frame_Shift_Del DEL CA CA - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 50684208 50684209 CA - DEL MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known frame_shift_del c.867_868 p.T290fs 0.991:0.997 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_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 75 0 0 62 5 7.46269 DOCK3 0 genome.wustl.edu 37 3 51417604 51417605 + Frame_Shift_Del DEL CC CC - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 51417604 51417605 CC - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549_5550 p.P1852fs 0.115:0.081 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 50 0 0 24 5 17.2414 CACNA1D 0 genome.wustl.edu 37 3 53529214 53529215 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 53529214 53529215 - A INS CACNA1D ENST00000288139 human ensembl 74_37 +1 known frame_shift_ins c.21_22 p.M9fs 1.000:1.000 NULL 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 110 0 0 92 9 8.91089 CACNA1D 0 genome.wustl.edu 37 3 53766932 53766932 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 53766932 53766932 A - DEL CACNA1D ENST00000288139 human ensembl 74_37 +1 known frame_shift_del c.2624 p.I877fs 1.000 NULL 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 85 0 0 56 8 12.5 DENND6A 0 genome.wustl.edu 37 3 57627437 57627438 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 3 57627437 57627438 - A INS DENND6A ENST00000311128 human ensembl 74_37 -1 known frame_shift_ins c.1075_1074 p.A358fs 1.000:1.000 pfam_Afi1_N,pfam_DENN_dom pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 91 0 0 70 7 9.09091 ADH1A 0 genome.wustl.edu 37 4 100205876 100205876 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 100205876 100205876 T - DEL ADH1A ENST00000209668 human ensembl 74_37 -1 known frame_shift_del c.344 p.N115fs 0.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1A HGNC ENSG00000187758 88 0 0 77 19 19.7917 ALPK1 0 genome.wustl.edu 37 4 113356326 113356326 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 113356326 113356326 A - DEL ALPK1 ENST00000177648 human ensembl 74_37 +1 known frame_shift_del c.3057 p.K1021fs 0.994 superfamily_Kinase-like_dom,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 229 0 0 205 38 15.6379 LARP7 0 genome.wustl.edu 37 4 113570754 113570754 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 113570754 113570754 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1206 p.T405fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 29 0 0 40 8 16.6667 KIAA1109 0 genome.wustl.edu 37 4 123117938 123117938 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 123117938 123117938 A - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.1201 p.N402fs 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 54 0 0 52 6 10.3448 ADAD1 0 genome.wustl.edu 37 4 123342417 123342418 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 123342417 123342418 - C INS ADAD1 ENST00000296513 human ensembl 74_37 +1 known frame_shift_ins c.1489_1490 p.F499fs 1.000:0.998 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 81 0 0 86 18 17.3077 BBS12 0 genome.wustl.edu 37 4 123664677 123664677 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 123664677 123664677 T - DEL BBS12 ENST00000314218 human ensembl 74_37 +1 known frame_shift_del c.1630 p.L545fs 0.348 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 145 0 0 137 10 6.80272 HSPA4L 0 genome.wustl.edu 37 4 128741625 128741625 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 128741625 128741625 A - DEL HSPA4L ENST00000439123 human ensembl 74_37 +1 known frame_shift_del c.1810 p.G606fs 0.951 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 71 0 0 70 20 22.2222 SCLT1 0 genome.wustl.edu 37 4 129924995 129924995 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 129924995 129924995 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.327 p.K109fs 0.840 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 112 0 0 88 15 14.5631 ABCE1 0 genome.wustl.edu 37 4 146041224 146041224 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 146041224 146041224 A - DEL ABCE1 ENST00000296577 human ensembl 74_37 +1 known frame_shift_del c.1063 p.M357fs 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 87 0 0 73 12 14.1176 OTUD4 0 genome.wustl.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 146077123 146077125 CAG - DEL OTUD4 ENST00000447906 human ensembl 74_37 -1 known in_frame_del c.655_653 p.A218in_frame_del 0.936:0.920:0.904 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 103 0 0 76 10 11.6279 SH3D19 0 genome.wustl.edu 37 4 152069114 152069114 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 152069114 152069114 G - DEL SH3D19 ENST00000304527 human ensembl 74_37 -1 known frame_shift_del c.1202 p.P401fs 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 77 0 0 53 11 17.1875 FGFBP2 0 genome.wustl.edu 37 4 15964150 15964152 + In_Frame_Del DEL CTT CTT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 15964150 15964152 CTT - DEL FGFBP2 ENST00000259989 human ensembl 74_37 -1 known in_frame_del c.603_601 p.K201in_frame_del 0.063:0.037:0.011 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP2 HGNC ENSG00000137441 79 0 0 56 11 16.4179 TKTL2 0 genome.wustl.edu 37 4 164394543 164394544 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 164394543 164394544 - G INS TKTL2 ENST00000280605 human ensembl 74_37 -1 known frame_shift_ins c.344_343 p.R115fs 0.447:0.001 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 69 0 0 62 9 12.6761 TRIM60 0 genome.wustl.edu 37 4 165961428 165961428 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 165961428 165961428 C - DEL TRIM60 ENST00000341062 human ensembl 74_37 +1 known frame_shift_del c.204 p.Q70fs 0.004 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 94 0 0 83 21 20.1923 SH3RF1 0 genome.wustl.edu 37 4 170057551 170057551 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 170057551 170057551 G - DEL SH3RF1 ENST00000284637 human ensembl 74_37 -1 known frame_shift_del c.986 p.P329fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 132 0 0 114 16 12.3077 SH3BP2 0 genome.wustl.edu 37 4 2831652 2831652 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 2831652 2831652 C - DEL SH3BP2 ENST00000503393 human ensembl 74_37 +1 known frame_shift_del c.1190 p.R399fs 0.989 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 69 0 0 55 4 6.77966 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 3430399 3430399 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3526 p.K1178fs 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 100 0 0 85 16 15.8416 UGDH 0 genome.wustl.edu 37 4 39505575 39505575 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 39505575 39505575 T - DEL UGDH ENST00000316423 human ensembl 74_37 -1 known frame_shift_del c.1294 p.M432fs 1.000 pfam_UDP-Glc/GDP-Man_DH_C,superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 47 0 0 50 8 13.7931 UGDH 0 genome.wustl.edu 37 4 39515753 39515753 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 39515753 39515753 A - DEL UGDH ENST00000316423 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 107 0 0 103 9 8.03571 ENSG00000221415 0 genome.wustl.edu 37 4 49200238 49200239 + RNA DEL TC TC - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 49200238 49200239 TC - DEL ENSG00000221415 ENST00000408488 human ensembl 74_37 +1 novel rna NULL NULL 0.019:0.022 - - - no_errors AC118282.1 Clone_based_ensembl_gene ENSG00000221415 8 0 0 2 4 66.6667 FIP1L1 0 genome.wustl.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 70 0 0 79 13 14.1304 SLC10A6 0 genome.wustl.edu 37 4 87769942 87769943 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 87769942 87769943 - C INS SLC10A6 ENST00000273905 human ensembl 74_37 -1 known frame_shift_ins c.327_326 p.T110fs 0.221:1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 136 0 0 107 11 9.32203 HERC5 0 genome.wustl.edu 37 4 89380513 89380514 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 89380513 89380514 - A INS HERC5 ENST00000264350 human ensembl 74_37 +1 known frame_shift_ins c.281_282 p.N96fs 0.990:0.980 superfamily_RCC1/BLIP-II pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 114 0 0 96 18 15.7895 STPG2 0 genome.wustl.edu 37 4 99027105 99027105 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 4 99027105 99027105 T - DEL STPG2 ENST00000295268 human ensembl 74_37 -1 known frame_shift_del c.611 p.K204fs 1.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 35 0 0 41 5 10.8696 FBN2 0 genome.wustl.edu 37 5 127637177 127637177 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 127637177 127637177 A - DEL FBN2 ENST00000262464 human ensembl 74_37 -1 known frame_shift_del c.5943 p.F1981fs 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 116 0 0 104 24 18.75 DNAH5 0 genome.wustl.edu 37 5 13701426 13701426 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 13701426 13701426 A - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.13458 p.F4486fs 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 DNAH5 HGNC ENSG00000039139 182 0 0 145 18 11.0429 PSD2 0 genome.wustl.edu 37 5 139193288 139193288 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 139193288 139193288 G - DEL PSD2 ENST00000274710 human ensembl 74_37 +1 known frame_shift_del c.766 p.D258fs 0.076 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 23 0 0 14 2 12.5 PCDHA7 0 genome.wustl.edu 37 5 140215405 140215405 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 140215405 140215405 G - DEL PCDHA7 ENST00000525929 human ensembl 74_37 +1 known frame_shift_del c.1437 p.D481fs 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 86 0 0 52 4 7.14286 TCERG1 0 genome.wustl.edu 37 5 145883504 145883505 + Frame_Shift_Ins INS - - GA TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 145883504 145883505 - GA INS TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_ins c.2665_2666 p.E893fs 1.000:1.000 superfamily_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 182 0 0 154 16 9.41176 SLC6A7 0 genome.wustl.edu 37 5 149581961 149581961 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 149581961 149581961 G - DEL SLC6A7 ENST00000230671 human ensembl 74_37 +1 known frame_shift_del c.910 p.L306fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 106 0 0 83 14 14.433 PWWP2A 0 genome.wustl.edu 37 5 159520656 159520656 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 159520656 159520656 T - DEL PWWP2A ENST00000307063 human ensembl 74_37 -1 known frame_shift_del c.1001 p.K334fs 1.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2A HGNC ENSG00000170234 67 0 0 55 14 20.2899 ADAMTS2 0 genome.wustl.edu 37 5 178699931 178699931 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 178699931 178699931 C - DEL ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known frame_shift_del c.669 p.P224fs 0.001 prints_Pept_M12B_ADAM-TS2 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 39 0 0 26 5 16.129 CDH12 0 genome.wustl.edu 37 5 22078600 22078600 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 22078600 22078600 A - DEL CDH12 ENST00000382254 human ensembl 74_37 -1 known frame_shift_del c.186 p.F62fs 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 134 0 0 131 14 9.65517 IL7R 0 genome.wustl.edu 37 5 35874637 35874637 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 35874637 35874637 A - DEL IL7R ENST00000303115 human ensembl 74_37 +1 known frame_shift_del c.793 p.R267fs 0.967 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 86 0 0 67 13 16.25 C5orf42 0 genome.wustl.edu 37 5 37182875 37182875 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 37182875 37182875 T - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.5408 p.N1803fs 0.004 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 30 0 0 29 7 19.4444 OSMR 0 genome.wustl.edu 37 5 38923329 38923329 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 38923329 38923329 A - DEL OSMR ENST00000274276 human ensembl 74_37 +1 known frame_shift_del c.1843 p.T617fs 0.981 pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 54 0 0 54 7 11.4754 RICTOR 0 genome.wustl.edu 37 5 38960027 38960028 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 38960027 38960028 - T INS RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_ins c.1905_1904 p.N635fs 0.998:0.999 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 165 0 0 115 13 10.1562 CARD6 0 genome.wustl.edu 37 5 40853094 40853094 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 40853094 40853094 T - DEL CARD6 ENST00000254691 human ensembl 74_37 +1 known frame_shift_del c.1660 p.F556fs 0.998 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 156 0 0 121 19 13.5714 ITGA2 0 genome.wustl.edu 37 5 52369065 52369066 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 52369065 52369066 - T INS ITGA2 ENST00000296585 human ensembl 74_37 +1 known frame_shift_ins c.2547_2548 p.A851fs 1.000:1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 215 0 0 212 27 11.2971 MOCS2 0 genome.wustl.edu 37 5 52402940 52402940 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 84 0 0 61 13 17.5676 DHX29 0 genome.wustl.edu 37 5 54586096 54586096 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 54586096 54586096 T - DEL DHX29 ENST00000251636 human ensembl 74_37 -1 known frame_shift_del c.857 p.N286fs 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 70 0 0 70 12 14.6341 PLK2 0 genome.wustl.edu 37 5 57753012 57753012 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 57753012 57753012 A - DEL PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_del c.1004 p.L335fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 59 0 0 35 9 20.4545 ADAMTS6 0 genome.wustl.edu 37 5 64766684 64766684 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 64766684 64766684 A - DEL ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known frame_shift_del c.383 p.L128fs 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 58 0 0 66 8 10.8108 NAIP 0 genome.wustl.edu 37 5 70307103 70307104 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 70307103 70307104 - G INS NAIP ENST00000194097 human ensembl 74_37 -1 known frame_shift_ins c.667_666 p.K222fs 0.999:0.998 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,superfamily_P-loop_NTPase,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR - no_errors NAIP HGNC ENSG00000249437 44 0 0 33 7 17.5 BDP1 0 genome.wustl.edu 37 5 70791221 70791221 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 70791221 70791221 A - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.1785 p.N597fs 0.003 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 104 0 0 107 22 17.0543 MAP1B 0 genome.wustl.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 71495076 71495077 - C INS MAP1B ENST00000296755 human ensembl 74_37 +1 known frame_shift_ins c.5894_5895 p.E1968fs 0.926:0.932 pfam_MAP1B_neuraxin pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 107 0 0 105 11 9.48276 GCNT4 0 genome.wustl.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 5 74324982 74324983 - G INS GCNT4 ENST00000322348 human ensembl 74_37 -1 known frame_shift_ins c.881_880 p.H294fs 0.920:0.913 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 103 0 0 91 6 6.18557 WISP3 0 genome.wustl.edu 37 6 112389434 112389434 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 112389434 112389434 A - DEL WISP3 ENST00000361714 human ensembl 74_37 +1 known frame_shift_del c.670 p.K226fs 1.000 superfamily_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 85 0 0 48 14 22.5806 EDN1 0 genome.wustl.edu 37 6 12294303 12294303 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 12294303 12294303 T - DEL EDN1 ENST00000379375 human ensembl 74_37 +1 known frame_shift_del c.363 p.C123fs 0.964 smart_Endothln-like_toxin pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 125 0 0 107 27 20.1493 TRDN 0 genome.wustl.edu 37 6 123786033 123786033 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 123786033 123786033 A - DEL TRDN ENST00000546248 human ensembl 74_37 -1 known frame_shift_del c.889 p.S297fs 0.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 9 0 0 7 3 30 NCOA7 0 genome.wustl.edu 37 6 126176317 126176317 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 126176317 126176317 A - DEL NCOA7 ENST00000368357 human ensembl 74_37 +1 known frame_shift_del c.202 p.K70fs 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 326 0 0 327 32 8.91365 THEMIS 0 genome.wustl.edu 37 6 128134568 128134568 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 128134568 128134568 T - DEL THEMIS ENST00000543064 human ensembl 74_37 -1 known frame_shift_del c.1218 p.V407fs 0.397 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 77 0 0 78 13 14.2857 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 84 0 0 79 14 15.0538 MYB 0 genome.wustl.edu 37 6 135518338 135518338 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 135518338 135518338 A - DEL MYB ENST00000341911 human ensembl 74_37 +1 known frame_shift_del c.1443 p.K483fs 0.998 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 78 0 0 66 6 8.33333 AHI1 0 genome.wustl.edu 37 6 135811861 135811862 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 135811861 135811862 - T INS AHI1 ENST00000265602 human ensembl 74_37 -1 known frame_shift_ins c.35_34 p.T12fs 1.000:1.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 136 0 0 132 16 10.8108 CCDC28A 0 genome.wustl.edu 37 6 139097330 139097331 + Frame_Shift_Del DEL AA AA - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 139097330 139097331 AA - DEL CCDC28A ENST00000332797 human ensembl 74_37 +1 known frame_shift_del c.343_344 p.N117fs 1.000:1.000 NULL NULL - no_errors CCDC28A HGNC ENSG00000024862 133 0 0 95 15 13.6364 HECA 0 genome.wustl.edu 37 6 139488147 139488147 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 139488147 139488147 G - DEL HECA ENST00000367658 human ensembl 74_37 +1 known frame_shift_del c.998 p.G335fs 1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 77 0 0 44 8 15.3846 GPR126 0 genome.wustl.edu 37 6 142691377 142691377 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 142691377 142691377 A - DEL GPR126 ENST00000367609 human ensembl 74_37 +1 known frame_shift_del c.516 p.S174fs 0.986 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 58 0 0 39 10 20.4082 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL 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 26 0 0 22 4 15.3846 IGF2R 0 genome.wustl.edu 37 6 160485488 160485488 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 160485488 160485488 G - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.3942 p.D1317fs 0.125 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 153 0 0 98 16 14.0351 ATXN1 0 genome.wustl.edu 37 6 16307055 16307055 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 16307055 16307055 A - DEL ATXN1 ENST00000244769 human ensembl 74_37 -1 known frame_shift_del c.1953 p.F651fs 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 127 0 0 99 17 14.6552 ATXN1 0 genome.wustl.edu 37 6 16328093 16328093 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 16328093 16328093 G - DEL ATXN1 ENST00000244769 human ensembl 74_37 -1 known frame_shift_del c.449 p.P150fs 0.997 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 99 0 0 55 8 12.6984 FGFR1OP 0 genome.wustl.edu 37 6 167413569 167413569 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 167413569 167413569 T - DEL FGFR1OP ENST00000366847 human ensembl 74_37 +1 known frame_shift_del c.124 p.L43fs 1.000 NULL pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation - no_errors FGFR1OP HGNC ENSG00000213066 60 0 0 69 8 10.3896 FAM120B 0 genome.wustl.edu 37 6 170627589 170627590 + In_Frame_Ins INS - - CTGAACCCAGGCAAGAAGTTCCCACGTGTTCAGACC TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 170627589 170627590 - CTGAACCCAGGCAAGAAGTTCCCACGTGTTCAGACC INS FAM120B ENST00000537664 human ensembl 74_37 +1 known in_frame_ins c.1180_1181 p.398in_frame_insQEVPTCSDPEPR 0.003:0.006 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 339 0 0 258 38 12.8378 NHLRC1 0 genome.wustl.edu 37 6 18122226 18122226 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 18122226 18122226 A - DEL NHLRC1 ENST00000340650 human ensembl 74_37 -1 known frame_shift_del c.612 p.F204fs 0.001 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 55 0 0 51 6 10.5263 HIST1H1A 0 genome.wustl.edu 37 6 26017448 26017448 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 26017448 26017448 T - DEL HIST1H1A ENST00000244573 human ensembl 74_37 -1 known frame_shift_del c.513 p.K171fs 0.866 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 275 0 0 207 16 7.17489 C6orf25 0 genome.wustl.edu 37 6 31692529 31692529 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 53 0 0 49 12 19.6721 GPSM3 0 genome.wustl.edu 37 6 32159229 32159230 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32159229 32159230 - C INS GPSM3 ENST00000375040 human ensembl 74_37 -1 known frame_shift_ins c.397_396 p.Q132fs 0.998:0.959 smart_GoLoco_motif,pfscan_GoLoco_motif pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 50 0 0 40 6 13.0435 C6orf10 0 genome.wustl.edu 37 6 32261771 32261771 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 32261771 32261771 A - DEL C6orf10 ENST00000447241 human ensembl 74_37 -1 known frame_shift_del c.679 p.S227fs 0.475 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 75 0 0 81 11 11.9565 COL11A2 0 genome.wustl.edu 37 6 33133481 33133481 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 33133481 33133481 C - DEL COL11A2 ENST00000341947 human ensembl 74_37 -1 known frame_shift_del c.4595 p.G1532fs 0.916 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 60 0 0 46 6 11.5385 TAPBP 0 genome.wustl.edu 37 6 33273073 33273073 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 33273073 33273073 G - DEL TAPBP ENST00000426633 human ensembl 74_37 -1 known frame_shift_del c.561 p.T188fs 0.055 NULL pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 28 0 0 22 8 26.6667 ITPR3 0 genome.wustl.edu 37 6 33608311 33608312 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 33608311 33608312 - C INS ITPR3 ENST00000374316 human ensembl 74_37 +1 known frame_shift_ins c.140_141 p.K50fs 1.000:1.000 pfam_Ins145_P3_rcpt,prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 95 0 0 68 6 8.10811 MOCS1 0 genome.wustl.edu 37 6 39893563 39893563 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 39893563 39893563 C - DEL MOCS1 ENST00000340692 human ensembl 74_37 -1 known frame_shift_del c.277 p.V93fs 0.999 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 44 0 0 38 8 17.3913 PRPF4B 0 genome.wustl.edu 37 6 4031881 4031881 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 4031881 4031881 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.130 p.K46fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 75 0 0 62 5 7.46269 CUL9 0 genome.wustl.edu 37 6 43172148 43172149 + Frame_Shift_Ins INS - - AG TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 43172148 43172149 - AG INS CUL9 ENST00000252050 human ensembl 74_37 +1 known frame_shift_ins c.4210_4211 p.T1407fs 0.729:0.683 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 168 0 0 104 15 12.605 EFHC1 0 genome.wustl.edu 37 6 52334208 52334208 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 52334208 52334208 A - DEL EFHC1 ENST00000371068 human ensembl 74_37 +1 known frame_shift_del c.1215 p.D408fs 0.140 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC1 HGNC ENSG00000096093 111 0 0 99 6 5.71429 DST 0 genome.wustl.edu 37 6 56382365 56382365 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 56382365 56382365 T - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.18090 p.K6030fs 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 36 0 0 46 10 17.8571 COL9A1 0 genome.wustl.edu 37 6 70990708 70990708 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 70990708 70990708 G - DEL COL9A1 ENST00000357250 human ensembl 74_37 -1 known frame_shift_del c.911 p.P304fs 0.999 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 25 0 0 19 6 24 OGFRL1 0 genome.wustl.edu 37 6 72006380 72006381 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 72006380 72006381 - A INS OGFRL1 ENST00000370435 human ensembl 74_37 +1 known frame_shift_ins c.552_553 p.T186fs 1.000:1.000 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 52 0 0 47 4 7.84314 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 63 0 0 41 17 29.3103 RRAGD 0 genome.wustl.edu 37 6 90097083 90097083 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 90097083 90097083 A - DEL RRAGD ENST00000369415 human ensembl 74_37 -1 known frame_shift_del c.375 p.F125fs 0.997 pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGD HGNC ENSG00000025039 181 0 0 194 19 8.92019 MDN1 0 genome.wustl.edu 37 6 90368572 90368578 + Frame_Shift_Del DEL TCCTCTT TCCTCTT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 TCCTCTT TCCTCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 6 90368572 90368578 TCCTCTT - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.14778_14772 p.G4926fs 0.629:0.001:0.000:0.000:0.000:0.002:0.002 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 159 0 0 130 11 7.80142 SRRT 0 genome.wustl.edu 37 7 100481744 100481744 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 100481744 100481744 G - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_del c.641 p.A216fs 0.999 pfam_DUF3546 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 66 0 0 38 6 13.6364 BCAP29 0 genome.wustl.edu 37 7 107234539 107234540 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 107234539 107234540 - T INS BCAP29 ENST00000379119 human ensembl 74_37 +1 known frame_shift_ins c.333_334 p.W113fs 0.995:1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 76 0 0 80 8 9.09091 IFRD1 0 genome.wustl.edu 37 7 112108039 112108039 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 112108039 112108039 T - DEL IFRD1 ENST00000005558 human ensembl 74_37 +1 known frame_shift_del c.910 p.Y306fs 1.000 pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 69 0 0 65 11 14.4737 C7orf60 0 genome.wustl.edu 37 7 112535733 112535733 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 112535733 112535733 T - DEL C7orf60 ENST00000297145 human ensembl 74_37 -1 known frame_shift_del c.364 p.R122fs 1.000 NULL pfam_DUF3321 - no_errors C7orf60 HGNC ENSG00000164603 69 0 0 88 11 11.1111 SCIN 0 genome.wustl.edu 37 7 12684234 12684235 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 12684234 12684235 - A INS SCIN ENST00000297029 human ensembl 74_37 +1 known frame_shift_ins c.1785_1786 p.D597fs 0.994:1.000 prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 27 0 0 34 7 17.0732 AKR1B10 0 genome.wustl.edu 37 7 134222396 134222396 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 134222396 134222396 A - DEL AKR1B10 ENST00000359579 human ensembl 74_37 +1 known frame_shift_del c.724 p.T244fs 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 104 0 0 90 14 13.4615 PTN 0 genome.wustl.edu 37 7 136938377 136938377 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 136938377 136938377 T - DEL PTN ENST00000348225 human ensembl 74_37 -1 known frame_shift_del c.123 p.V42fs 1.000 pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 25 0 0 17 6 26.087 ETV1 0 genome.wustl.edu 37 7 13975473 13975473 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 13975473 13975473 G - DEL ETV1 ENST00000405218 human ensembl 74_37 -1 known frame_shift_del c.414 p.T139fs 0.466 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 66 0 0 73 6 7.59494 OR9A4 0 genome.wustl.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 141619203 141619203 T - DEL OR9A4 ENST00000548136 human ensembl 74_37 +1 known frame_shift_del c.528 p.C179fs 0.509 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 OR9A4 HGNC ENSG00000258083 162 0 0 182 48 20.8696 ASIC3 0 genome.wustl.edu 37 7 150746179 150746180 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 150746179 150746180 - T INS ASIC3 ENST00000297512 human ensembl 74_37 +1 known frame_shift_ins c.207_208 p.H70fs 0.999:1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 59 0 0 49 6 10.9091 FKBP9 0 genome.wustl.edu 37 7 33014265 33014265 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 33014265 33014265 A - DEL FKBP9 ENST00000538336 human ensembl 74_37 +1 known frame_shift_del c.417 p.G141fs 0.179 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 176 0 0 150 20 11.7647 SEPT7 0 genome.wustl.edu 37 7 35942747 35942747 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 35942747 35942747 A - DEL SEPT7 ENST00000399034 human ensembl 74_37 +1 known frame_shift_del c.1199 p.K401fs 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin7 - no_errors SEPT7 HGNC ENSG00000122545 37 0 0 38 8 17.3913 ELMO1 0 genome.wustl.edu 37 7 37136300 37136301 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 37136300 37136301 - T INS ELMO1 ENST00000310758 human ensembl 74_37 -1 known frame_shift_ins c.1224_1223 p.H409fs 1.000:1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 98 0 0 84 7 7.69231 OGDH 0 genome.wustl.edu 37 7 44747227 44747228 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 44747227 44747228 - C INS OGDH ENST00000222673 human ensembl 74_37 +1 known frame_shift_ins c.2843_2844 p.N950fs 1.000:1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 142 0 0 113 9 7.37705 ABCA13 0 genome.wustl.edu 37 7 48312265 48312265 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 48312265 48312265 A - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.3002 p.Q1001fs 0.995 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 39 0 0 31 9 22.5 CYTH3 0 genome.wustl.edu 37 7 6204578 6204578 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 6204578 6204578 T - DEL CYTH3 ENST00000350796 human ensembl 74_37 -1 known frame_shift_del c.1197 p.K399fs 1.000 NULL 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 280 0 0 242 44 15.3846 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 140 0 0 143 18 11.1801 DMTF1 0 genome.wustl.edu 37 7 86817444 86817444 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 86817444 86817444 A - DEL DMTF1 ENST00000331242 human ensembl 74_37 +1 known frame_shift_del c.1238 p.N415fs 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 108 0 0 77 16 17.2043 AKAP9 0 genome.wustl.edu 37 7 91603085 91603085 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 91603085 91603085 A - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.145 p.K51fs 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 117 0 0 93 8 7.92079 ASB4 0 genome.wustl.edu 37 7 95157266 95157266 + Frame_Shift_Del DEL C C - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 7 95157266 95157266 C - DEL ASB4 ENST00000325885 human ensembl 74_37 +1 known frame_shift_del c.629 p.L212fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC ENSG00000005981 39 0 0 29 4 12.1212 VPS13B 0 genome.wustl.edu 37 8 100673594 100673595 + Frame_Shift_Del DEL CT CT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 100673594 100673595 CT - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.5996_5997 p.L2000fs 1.000:0.984 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 79 0 0 103 14 11.9658 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 98 0 0 95 26 21.4876 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 49 0 0 30 22 42.3077 RP1L1 0 genome.wustl.edu 37 8 10470757 10470757 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 10470757 10470757 G - DEL RP1L1 ENST00000382483 human ensembl 74_37 -1 known frame_shift_del c.851 p.P284fs 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 62 0 0 42 8 16 FAM83A 0 genome.wustl.edu 37 8 124221696 124221697 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 124221696 124221697 - A INS FAM83A ENST00000276699 human ensembl 74_37 +1 known frame_shift_ins c.1064_1065 p.Q358fs 0.000:0.004 NULL pfam_DUF1669 - no_errors FAM83A HGNC ENSG00000147689 73 0 0 92 11 10.6796 ATAD2 0 genome.wustl.edu 37 8 124384893 124384893 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 142 0 0 162 25 13.369 MTSS1 0 genome.wustl.edu 37 8 125597329 125597329 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 125597329 125597329 T - DEL MTSS1 ENST00000518547 human ensembl 74_37 -1 known frame_shift_del c.459 p.R155fs 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 162 0 0 180 26 12.6214 MIR1208 0 genome.wustl.edu 37 8 129162432 129162433 + RNA INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 129162432 129162433 - G INS MIR1208 ENST00000408334 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors MIR1208 HGNC ENSG00000221261 43 0 0 44 10 18.5185 WISP1 0 genome.wustl.edu 37 8 134237718 134237718 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 134237718 134237718 G - DEL WISP1 ENST00000250160 human ensembl 74_37 +1 known frame_shift_del c.696 p.V234fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 88 0 0 44 19 30.1587 SLC39A4 0 genome.wustl.edu 37 8 145637952 145637954 + In_Frame_Del DEL CAG CAG - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 145637952 145637954 CAG - DEL SLC39A4 ENST00000301305 human ensembl 74_37 -1 known in_frame_del c.1914_1912 p.L638in_frame_del 0.995:1.000:1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 153 0 0 126 28 18.1818 ZNF34 0 genome.wustl.edu 37 8 145999587 145999587 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 145999587 145999587 T - DEL ZNF34 ENST00000343459 human ensembl 74_37 -1 known frame_shift_del c.747 p.K249fs 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 ZNF34 HGNC ENSG00000196378 60 0 0 64 8 11.1111 ZNF34 0 genome.wustl.edu 37 8 145999670 145999670 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 145999670 145999670 T - DEL ZNF34 ENST00000343459 human ensembl 74_37 -1 known frame_shift_del c.664 p.T222fs 0.001 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 47 0 0 45 6 11.7647 ZNF7 0 genome.wustl.edu 37 8 146067051 146067052 + Frame_Shift_Ins INS - - AG TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 146067051 146067052 - AG INS ZNF7 ENST00000325241 human ensembl 74_37 +1 known frame_shift_ins c.559_560 p.G188fs 0.001:0.000 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 ZNF7 HGNC ENSG00000147789 84 0 0 89 10 10.101 DMTN 0 genome.wustl.edu 37 8 21926551 21926552 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 21926551 21926552 - C INS DMTN ENST00000265800 human ensembl 74_37 +1 known frame_shift_ins c.274_275 p.P95fs 1.000:1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 78 0 0 82 7 7.86517 RAB11FIP1 0 genome.wustl.edu 37 8 37729658 37729660 + In_Frame_Del DEL GGA GGA - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 37729658 37729660 GGA - DEL RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known in_frame_del c.2662_2660 p.L887in_frame_del 0.000:0.000:0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 43 0 0 46 7 13.2075 GOT1L1 0 genome.wustl.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 37791834 37791834 T - DEL GOT1L1 ENST00000307599 human ensembl 74_37 -1 known frame_shift_del c.1243 p.T415fs 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 99 0 0 122 15 10.9489 KAT6A 0 genome.wustl.edu 37 8 41790600 41790600 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 41790600 41790600 G - DEL KAT6A ENST00000265713 human ensembl 74_37 -1 known frame_shift_del c.5138 p.P1713fs 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 95 0 0 103 10 8.84956 CYP7B1 0 genome.wustl.edu 37 8 65528706 65528706 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 65528706 65528706 T - DEL CYP7B1 ENST00000310193 human ensembl 74_37 -1 known frame_shift_del c.392 p.N131fs 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 50 0 0 56 21 27.2727 SULF1 0 genome.wustl.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 303 0 0 248 77 23.6923 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 179 0 0 155 15 8.82353 PSKH2 0 genome.wustl.edu 37 8 87076406 87076406 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 87076406 87076406 T - DEL PSKH2 ENST00000276616 human ensembl 74_37 -1 known frame_shift_del c.640 p.S214fs 0.983 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 61 0 0 76 6 7.31707 INTS8 0 genome.wustl.edu 37 8 95892420 95892421 + Frame_Shift_Ins INS - - A TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 8 95892420 95892421 - A INS INTS8 ENST00000523731 human ensembl 74_37 +1 known frame_shift_ins c.2946_2947 p.F985fs 1.000:1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 80 0 0 85 10 10.5263 PAPPA 0 genome.wustl.edu 37 9 119144763 119144763 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 119144763 119144763 G - DEL PAPPA ENST00000328252 human ensembl 74_37 +1 known frame_shift_del c.4767 p.T1590fs 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 90 0 0 80 7 8.04598 CDK5RAP2 0 genome.wustl.edu 37 9 123253654 123253654 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 123253654 123253654 T - DEL CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known frame_shift_del c.1413 p.K471fs 0.277 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 75 0 0 58 6 9.375 OR1J2 0 genome.wustl.edu 37 9 125273386 125273386 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 125273386 125273386 T - DEL OR1J2 ENST00000335302 human ensembl 74_37 +1 known frame_shift_del c.306 p.F104fs 0.995 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 OR1J2 HGNC ENSG00000197233 77 0 0 80 11 12.0879 MAPKAP1 0 genome.wustl.edu 37 9 128322020 128322020 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 128322020 128322020 G - DEL MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known frame_shift_del c.740 p.P247fs 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 60 0 0 34 9 20.9302 TTF1 0 genome.wustl.edu 37 9 135277202 135277202 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 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 138 0 0 127 18 12.4138 PNPLA7 0 genome.wustl.edu 37 9 140356678 140356679 + Frame_Shift_Ins INS - - G TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 140356678 140356679 - G INS PNPLA7 ENST00000406427 human ensembl 74_37 -1 known frame_shift_ins c.3598_3597 p.I1199fs 1.000:1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 34 0 0 31 9 22.5 DPH7 0 genome.wustl.edu 37 9 140469211 140469211 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 140469211 140469211 T - DEL DPH7 ENST00000277540 human ensembl 74_37 -1 known frame_shift_del c.460 p.T154fs 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DPH7 HGNC ENSG00000148399 223 0 0 181 29 13.8095 FREM1 0 genome.wustl.edu 37 9 14789027 14789028 + Frame_Shift_Del DEL GT GT - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 14789027 14789028 GT - DEL FREM1 ENST00000380881 human ensembl 74_37 -1 known frame_shift_del c.4070_4069 p.T1357fs 0.995:1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 33 0 0 29 15 34.0909 KIAA0020 0 genome.wustl.edu 37 9 2804407 2804408 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 2804407 2804408 - T INS KIAA0020 ENST00000397885 human ensembl 74_37 -1 known frame_shift_ins c.1871_1870 p.S624fs 1.000:1.000 superfamily_ARM-type_fold pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 79 0 0 62 10 13.8889 TAF1L 0 genome.wustl.edu 37 9 32633025 32633025 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 32633025 32633025 T - DEL TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_del c.2553 p.A852fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 171 0 0 144 17 10.559 C9orf131 0 genome.wustl.edu 37 9 35044408 35044408 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 35044408 35044408 A - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1782 p.N596fs 0.005 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 208 0 0 198 28 12.3894 GBA2 0 genome.wustl.edu 37 9 35738573 35738574 + Frame_Shift_Ins INS - - T TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 35738573 35738574 - T INS GBA2 ENST00000545786 human ensembl 74_37 -1 known frame_shift_ins c.2022_2021 p.N674fs 0.894:1.000 pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 150 0 0 108 13 10.7438 PLGRKT 0 genome.wustl.edu 37 9 5361787 5361787 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 5361787 5361787 A - DEL PLGRKT ENST00000223864 human ensembl 74_37 -1 known frame_shift_del c.183 p.F61fs 1.000 pfam_DUF2368 pfam_DUF2368 - no_errors PLGRKT HGNC ENSG00000107020 104 0 0 95 12 11.215 ERMP1 0 genome.wustl.edu 37 9 5801292 5801292 + Frame_Shift_Del DEL T T - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 5801292 5801292 T - DEL ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_del c.1951 p.T651fs 0.994 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 69 0 0 61 16 20.7792 KANK1 0 genome.wustl.edu 37 9 711074 711075 + Frame_Shift_Ins INS - - C TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 711074 711075 - C INS KANK1 ENST00000382297 human ensembl 74_37 +1 known frame_shift_ins c.308_309 p.N105fs 1.000:0.978 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 119 0 0 99 12 10.8108 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 11 0 0 21 5 19.2308 DCX 0 genome.wustl.edu 37 X 110644445 110644445 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 110644445 110644445 G - DEL DCX ENST00000338081 human ensembl 74_37 -1 known frame_shift_del c.721 p.Q241fs 1.000 pirsf_Doublecortin_chordata pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 101 0 0 75 10 11.7647 FGF13 0 genome.wustl.edu 37 X 137939823 137939823 + Frame_Shift_Del DEL G G - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 137939823 137939823 G - DEL FGF13 ENST00000370603 human ensembl 74_37 -1 known frame_shift_del c.68 p.P23fs 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 49 0 0 51 10 16.3934 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 64 0 0 35 4 10.2564 MAGEE1 0 genome.wustl.edu 37 X 75650343 75650343 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 75650343 75650343 A - DEL MAGEE1 ENST00000361470 human ensembl 74_37 +1 known frame_shift_del c.2020 p.I675fs 0.011 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 45 0 0 41 10 19.6078 FAM133A 0 genome.wustl.edu 37 X 92964950 92964950 + Frame_Shift_Del DEL A A - TCGA-BR-4201-01A-01D-1126-08 TCGA-BR-4201-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cf40f330-fe61-46ba-9b96-ad011d85bb21 7966b3b9-707d-40ce-9895-151824d97ea7 X 92964950 92964950 A - DEL FAM133A ENST00000322139 human ensembl 74_37 +1 known frame_shift_del c.532 p.R180fs 0.996 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 62 0 0 33 9 21.4286