Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AGL 0 genome.wustl.edu 37 1 100379236 100379236 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 100379236 100379236 C T SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.4103 p.A1368V 1.000 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 135 0 0 83 49 37.1212 S1PR1 0 genome.wustl.edu 37 1 101704655 101704655 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 101704655 101704655 G A SNP S1PR1 ENST00000305352 human ensembl 74_37 +1 known missense c.115 p.A39T 0.006 prints_EDG1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 117 0 0 70 26 27.0833 COL11A1 0 genome.wustl.edu 37 1 103491362 103491362 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 103491362 103491362 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.927 p.G309 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 68 0 0 72 4 5.26316 CASZ1 0 genome.wustl.edu 37 1 10714074 10714074 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 10714074 10714074 G T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.2040 p.T680 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 33 0 0 25 8 24.2424 VAV3 0 genome.wustl.edu 37 1 108417568 108417568 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 108417568 108417568 T G SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.276 p.E92D 0.998 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin 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 47 0 0 57 8 12.3077 AKNAD1 0 genome.wustl.edu 37 1 109359778 109359778 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 109359778 109359778 C T SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.2271 p.M757I 0.000 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 32 0 0 19 12 38.7097 AHCYL1 0 genome.wustl.edu 37 1 110561031 110561031 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 110561031 110561031 G A SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.1160 p.R387H 1.000 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 47 0 0 40 17 29.8246 STRIP1 0 genome.wustl.edu 37 1 110581321 110581321 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 110581321 110581321 G A SNP STRIP1 ENST00000369795 human ensembl 74_37 +1 known silent c.267 p.T89 0.007 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 57 0 0 74 7 8.64198 KCNC4 0 genome.wustl.edu 37 1 110754251 110754251 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 110754251 110754251 G A SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.130 p.G44S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_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 54 0 0 54 5 8.47458 DENND2D 0 genome.wustl.edu 37 1 111734909 111734909 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 111734909 111734909 G A SNP DENND2D ENST00000357640 human ensembl 74_37 -1 known silent c.825 p.A275 0.065 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2D HGNC ENSG00000162777 34 0 0 31 10 24.3902 ATP5F1 0 genome.wustl.edu 37 1 112002112 112002112 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 112002112 112002112 C T SNP ATP5F1 ENST00000369722 human ensembl 74_37 +1 known missense c.547 p.R183W 1.000 pfam_ATPase_B_chain/sub_B/MI25 pfam_ATPase_B_chain/sub_B/MI25 - no_errors ATP5F1 HGNC ENSG00000116459 68 0 0 79 6 7.05882 SLC16A1 0 genome.wustl.edu 37 1 113460046 113460046 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 113460046 113460046 G A SNP SLC16A1 ENST00000369626 human ensembl 74_37 -1 known nonsense c.982 p.R328* 0.988 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 30 0 0 19 11 36.6667 MAGI3 0 genome.wustl.edu 37 1 114196613 114196613 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 114196613 114196613 A G SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.2602 p.T868A 1.000 pfam_PDZ,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 189 0 0 198 13 6.16114 PTPN22 0 genome.wustl.edu 37 1 114380697 114380697 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 114380697 114380697 A G SNP PTPN22 ENST00000359785 human ensembl 74_37 -1 known missense c.1325 p.V442A 0.001 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 67 0 0 72 10 12.1951 AP4B1 0 genome.wustl.edu 37 1 114438057 114438057 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 114438057 114438057 G T SNP AP4B1 ENST00000256658 human ensembl 74_37 -1 known missense c.1850 p.A617D 0.311 pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 87 0 0 71 28 28.2828 CSDE1 0 genome.wustl.edu 37 1 115260698 115260698 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 115260698 115260698 C T SNP CSDE1 ENST00000483407 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CSDE1 HGNC ENSG00000009307 29 0 0 18 8 30.7692 PTGFRN 0 genome.wustl.edu 37 1 117487474 117487474 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 117487474 117487474 G A SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known missense c.592 p.A198T 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 13 0 0 11 5 31.25 CD101 0 genome.wustl.edu 37 1 117552499 117552499 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 117552499 117552499 T C SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.71 p.V24A 0.999 pfam_Ig_V-set pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 101 0 0 112 8 6.66667 MTHFR 0 genome.wustl.edu 37 1 11852364 11852364 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 11852364 11852364 G A SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known missense c.1726 p.R576W 0.998 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 146 0 0 109 42 27.8146 CLCN6 0 genome.wustl.edu 37 1 11898430 11898430 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 11898430 11898430 C T SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known silent c.2334 p.A778 0.970 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 101 0 0 65 7 9.72222 ZNF697 0 genome.wustl.edu 37 1 120165879 120165879 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 120165879 120165879 C T SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known missense c.1087 p.V363M 0.991 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 11 0 0 2 3 60 MFN2 0 genome.wustl.edu 37 1 12052705 12052705 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 12052705 12052705 A G SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.269 p.E90G 1.000 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 284 0 0 197 48 19.5918 PRAMEF2 0 genome.wustl.edu 37 1 12921156 12921156 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 12921156 12921156 T A SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.947 p.F316Y 0.006 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 207 0 0 143 38 20.9945 BCL9 0 genome.wustl.edu 37 1 147091769 147091769 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 147091769 147091769 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.1808 p.R603Q 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 104 0 0 65 18 21.6867 GABPB2 0 genome.wustl.edu 37 1 151063025 151063025 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 151063025 151063025 G A SNP GABPB2 ENST00000368918 human ensembl 74_37 +1 known silent c.252 p.A84 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB2 HGNC ENSG00000143458 131 1 0.757576 93 29 23.7705 RFX5 0 genome.wustl.edu 37 1 151316207 151316207 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 151316207 151316207 A G SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.707 p.I236T 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 69 0 0 49 4 7.54717 TUFT1 0 genome.wustl.edu 37 1 151546762 151546762 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 151546762 151546762 A G SNP TUFT1 ENST00000538902 human ensembl 74_37 +1 known missense c.668 p.Y223C 0.997 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 81 0 0 62 10 13.8889 LINGO4 0 genome.wustl.edu 37 1 151774279 151774279 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 151774279 151774279 C T SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known missense c.902 p.R301Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 59 0 0 42 22 34.375 FLG 0 genome.wustl.edu 37 1 152282031 152282031 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 152282031 152282031 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.5331 p.S1777 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 259 1 0.384615 202 81 28.6219 CRCT1 0 genome.wustl.edu 37 1 152487940 152487940 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 152487940 152487940 G A SNP CRCT1 ENST00000368790 human ensembl 74_37 +1 known silent c.81 p.P27 0.000 NULL NULL - no_errors CRCT1 HGNC ENSG00000169509 8 0 0 15 6 28.5714 SMCP 0 genome.wustl.edu 37 1 152857092 152857092 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 152857092 152857092 G A SNP SMCP ENST00000368765 human ensembl 74_37 +1 known missense c.194 p.C65Y 0.130 NULL NULL - no_errors SMCP HGNC ENSG00000163206 220 0 0 166 25 13.089 PGLYRP3 0 genome.wustl.edu 37 1 153279700 153279700 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 153279700 153279700 C T SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known silent c.99 p.P33 0.000 superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 13 0 0 13 4 23.5294 AQP10 0 genome.wustl.edu 37 1 154296779 154296779 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 154296779 154296779 G T SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.729 p.W243C 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 24 0 0 30 3 9.09091 GBA 0 genome.wustl.edu 37 1 155207185 155207185 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 155207185 155207185 G A SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.946 p.R316C 0.012 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 92 0 0 68 11 13.9241 ASH1L 0 genome.wustl.edu 37 1 155327459 155327459 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 155327459 155327459 T C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.6892 p.K2298E 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 99 0 0 119 14 10.5263 DAP3 0 genome.wustl.edu 37 1 155691377 155691377 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 155691377 155691377 C T SNP DAP3 ENST00000343043 human ensembl 74_37 +1 known missense c.238 p.P80S 1.000 superfamily_P-loop_NTPase pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 129 0 0 66 32 32.6531 RXFP4 0 genome.wustl.edu 37 1 155912164 155912164 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 155912164 155912164 A G SNP RXFP4 ENST00000368318 human ensembl 74_37 +1 known missense c.664 p.T222A 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors RXFP4 HGNC ENSG00000173080 49 0 0 52 9 14.7541 SLC25A44 0 genome.wustl.edu 37 1 156170176 156170176 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 156170176 156170176 C T SNP SLC25A44 ENST00000359511 human ensembl 74_37 +1 known missense c.538 p.R180C 0.790 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC ENSG00000160785 120 0 0 77 36 31.8584 NTRK1 0 genome.wustl.edu 37 1 156837916 156837916 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 156837916 156837916 T C SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.449 p.L150P 0.517 smart_Cys-rich_flank_reg_C 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 92 0 0 81 8 8.98876 KIRREL 0 genome.wustl.edu 37 1 158064555 158064555 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 158064555 158064555 G A SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1967 p.R656H 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 56 0 0 37 17 31.4815 OR10X1 0 genome.wustl.edu 37 1 158549198 158549198 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 158549198 158549198 A G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known silent c.492 p.A164 0.985 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 31 0 0 18 8 30.7692 IFI16 0 genome.wustl.edu 37 1 158986435 158986435 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 158986435 158986435 G A SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.494 p.R165H 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 98 0 0 73 22 23.1579 VANGL2 0 genome.wustl.edu 37 1 160385688 160385688 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 160385688 160385688 C T SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known missense c.61 p.R21C 1.000 pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 44 0 0 20 12 37.5 PVRL4 0 genome.wustl.edu 37 1 161049561 161049561 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 161049561 161049561 G A SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known silent c.258 p.Y86 0.991 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 70 0 0 40 19 32.2034 FCGR2A 0 genome.wustl.edu 37 1 161476213 161476213 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 161476213 161476213 C T SNP FCGR2A ENST00000271450 human ensembl 74_37 +1 known missense c.196 p.R66C 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2A HGNC ENSG00000143226 71 0 0 48 14 22.5806 ARHGEF19 0 genome.wustl.edu 37 1 16525022 16525022 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 16525022 16525022 C T SNP ARHGEF19 ENST00000478117 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGEF19 HGNC ENSG00000142632 38 0 0 39 3 7.14286 RCSD1 0 genome.wustl.edu 37 1 167659290 167659290 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 167659290 167659290 C T SNP RCSD1 ENST00000367854 human ensembl 74_37 +1 known missense c.203 p.S68L 0.908 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 112 0 0 100 6 5.66038 CCDC181 0 genome.wustl.edu 37 1 169394074 169394074 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 169394074 169394074 T C SNP CCDC181 ENST00000367806 human ensembl 74_37 -1 known missense c.92 p.E31G 0.998 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 65 0 0 45 23 33.8235 MROH9 0 genome.wustl.edu 37 1 170967338 170967338 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 170967338 170967338 A C SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.1519 p.S507R 0.031 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 60 0 0 83 11 11.7021 DNM3 0 genome.wustl.edu 37 1 171956852 171956852 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 171956852 171956852 C T SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known missense c.292 p.R98C 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 157 0 0 118 41 25.7862 ATP13A2 0 genome.wustl.edu 37 1 17318354 17318354 + Splice_Site SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 17318354 17318354 C A SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known splice_site c.2127-1 e20-1 1.000 - - - no_errors ATP13A2 HGNC ENSG00000159363 72 0 0 61 9 12.8571 GAS5 0 genome.wustl.edu 37 1 173836814 173836814 + RNA SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 173836814 173836814 A G SNP GAS5 ENST00000364084 human ensembl 74_37 -1 known rna NULL NULL 0.599 - - - no_errors GAS5 HGNC ENSG00000234741 94 0 0 56 8 12.5 SERPINC1 0 genome.wustl.edu 37 1 173878804 173878804 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 173878804 173878804 T C SNP SERPINC1 ENST00000367698 human ensembl 74_37 -1 known missense c.1039 p.M347V 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINC1 HGNC ENSG00000117601 188 1 0.529101 169 20 10.582 QSOX1 0 genome.wustl.edu 37 1 180155277 180155277 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 180155277 180155277 G A SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.977 p.R326H 1.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 45 0 0 40 7 14.8936 SHCBP1L 0 genome.wustl.edu 37 1 182921962 182921962 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 182921962 182921962 C T SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known missense c.307 p.A103T 0.966 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 35 0 0 20 14 41.1765 LAMC2 0 genome.wustl.edu 37 1 183197579 183197579 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 183197579 183197579 T C SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known silent c.1539 p.P513 0.997 smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 61 0 0 53 5 8.62069 KCNT2 0 genome.wustl.edu 37 1 196197341 196197341 + RNA SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 196197341 196197341 C A SNP KCNT2 ENST00000498426 human ensembl 74_37 -1 known rna NULL NULL 0.209 - - - no_errors KCNT2 HGNC ENSG00000162687 14 0 0 21 5 19.2308 KCNT2 0 genome.wustl.edu 37 1 196288662 196288662 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 196288662 196288662 G A SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2300 p.A767V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 57 0 0 84 5 5.61798 DENND1B 0 genome.wustl.edu 37 1 197704823 197704823 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 197704823 197704823 C T SNP DENND1B ENST00000477581 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DENND1B HGNC ENSG00000213047 23 0 0 18 15 45.4545 CAMSAP2 0 genome.wustl.edu 37 1 200818250 200818250 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 200818250 200818250 A G SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known missense c.2386 p.T796A 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 69 0 0 80 5 5.88235 KIF21B 0 genome.wustl.edu 37 1 200968582 200968582 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 200968582 200968582 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known nonsense c.1780 p.R594* 0.499 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 104 0 0 74 5 6.32911 C4BPA 0 genome.wustl.edu 37 1 207300065 207300065 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 207300065 207300065 C A SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known silent c.714 p.T238 0.032 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 60 0 0 61 22 26.506 CR1 0 genome.wustl.edu 37 1 207758095 207758095 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 207758095 207758095 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.5404 p.P1802S 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 176 0 0 148 21 12.426 LAMB3 0 genome.wustl.edu 37 1 209804065 209804065 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 209804065 209804065 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.838 p.V280I 0.984 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 56 0 0 28 9 24.3243 CENPF 0 genome.wustl.edu 37 1 214795454 214795454 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 214795454 214795454 C T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.898 p.R300C 0.222 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 40 0 0 19 7 26.9231 ECE1 0 genome.wustl.edu 37 1 21563339 21563339 + Splice_Site SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 21563339 21563339 T G SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known splice_site c.1390-2 e12-2 1.000 - - - no_errors ECE1 HGNC ENSG00000117298 106 0 0 115 11 8.73016 USH2A 0 genome.wustl.edu 37 1 215956157 215956157 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 215956157 215956157 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.10508 p.S3503N 0.064 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 65 0 0 81 7 7.95455 EPRS 0 genome.wustl.edu 37 1 220152906 220152906 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 220152906 220152906 C T SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.3763 p.V1255I 0.018 pfscan_aa-tRNA-synth_II,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 77 0 0 62 5 7.46269 DUSP10 0 genome.wustl.edu 37 1 221875832 221875832 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 221875832 221875832 C T SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known silent c.1371 p.E457 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 169 0 0 164 10 5.74713 DUSP10 0 genome.wustl.edu 37 1 221912540 221912540 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 221912540 221912540 A G SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known missense c.547 p.Y183H 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 112 0 0 71 30 29.703 HHIPL2 0 genome.wustl.edu 37 1 222696078 222696078 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 222696078 222696078 T C SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known silent c.2040 p.R680 0.000 NULL pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 252 0 0 241 21 8.01527 MIA3 0 genome.wustl.edu 37 1 222801804 222801804 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 222801804 222801804 T A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.1242 p.D414E 0.738 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 66 0 0 72 9 11.1111 DISP1 0 genome.wustl.edu 37 1 223177005 223177005 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 223177005 223177005 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.2266 p.R756W 0.993 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 63 0 0 60 20 25 MIXL1 0 genome.wustl.edu 37 1 226413384 226413384 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 226413384 226413384 T C SNP MIXL1 ENST00000366810 human ensembl 74_37 +1 known silent c.570 p.V190 0.245 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MIXL1 HGNC ENSG00000185155 87 0 0 70 5 6.66667 ITPKB 0 genome.wustl.edu 37 1 226923596 226923596 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 226923596 226923596 G A SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.1564 p.R522C 0.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 51 0 0 31 2 6.06061 ITPKB 0 genome.wustl.edu 37 1 226924682 226924682 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 226924682 226924682 C T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.478 p.A160T 0.927 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 142 0 0 107 14 11.5702 SNAP47 0 genome.wustl.edu 37 1 227954678 227954678 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 227954678 227954678 G A SNP SNAP47 ENST00000366759 human ensembl 74_37 +1 known missense c.1142 p.R381H 0.000 NULL pfscan_T_SNARE_dom - no_errors SNAP47 HGNC ENSG00000143740 56 0 0 44 12 21.4286 OBSCN 0 genome.wustl.edu 37 1 228437865 228437865 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 228437865 228437865 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.4233 p.Q1411H 0.994 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 123 0 0 108 11 9.2437 OBSCN 0 genome.wustl.edu 37 1 228495858 228495858 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 228495858 228495858 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.12513 p.T4171 0.002 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 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 90 0 0 57 16 21.9178 EPHA8 0 genome.wustl.edu 37 1 22902838 22902838 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 22902838 22902838 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known silent c.288 p.R96 0.721 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_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 EPHA8 HGNC ENSG00000070886 69 0 0 48 23 32.3944 SIPA1L2 0 genome.wustl.edu 37 1 232581355 232581355 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 232581355 232581355 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.3273 p.P1091 0.983 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 52 0 0 46 14 23.3333 TARBP1 0 genome.wustl.edu 37 1 234553890 234553890 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 234553890 234553890 A G SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel silent c.3645 p.I1215 1.000 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 17 0 0 34 3 8.10811 HNRNPR 0 genome.wustl.edu 37 1 23645142 23645142 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 23645142 23645142 T C SNP HNRNPR ENST00000374616 human ensembl 74_37 -1 known missense c.860 p.D287G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 38 0 0 36 7 16.2791 EDARADD 0 genome.wustl.edu 37 1 236557807 236557807 + Splice_Site SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 236557807 236557807 T C SNP EDARADD ENST00000334232 human ensembl 74_37 +1 known splice_site c.61+2 e1+2 0.334 - - - no_errors EDARADD HGNC ENSG00000186197 88 0 0 82 7 7.86517 EDARADD 0 genome.wustl.edu 37 1 236590728 236590728 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 236590728 236590728 G A SNP EDARADD ENST00000334232 human ensembl 74_37 +1 known missense c.197 p.R66Q 0.036 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDARADD HGNC ENSG00000186197 42 0 0 37 16 30.1887 EDARADD 0 genome.wustl.edu 37 1 236645911 236645911 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 236645911 236645911 C T SNP EDARADD ENST00000334232 human ensembl 74_37 +1 known missense c.610 p.P204S 1.000 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDARADD HGNC ENSG00000186197 111 0 0 113 10 8.13008 MTR 0 genome.wustl.edu 37 1 237024537 237024537 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 237024537 237024537 T C SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.2156 p.V719A 1.000 pfam_Cbl-bd_cap,superfamily_Cbl-bd_cap,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 92 0 0 103 14 11.9658 RYR2 0 genome.wustl.edu 37 1 237778123 237778123 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 237778123 237778123 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5689 p.P1897S 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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 24 0 0 21 9 30 CHRM3 0 genome.wustl.edu 37 1 240072331 240072331 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 240072331 240072331 A C SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.1580 p.N527T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,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 93 0 0 79 8 9.1954 FMN2 0 genome.wustl.edu 37 1 240370282 240370282 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 240370282 240370282 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2170 p.E724K 0.955 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 61 0 0 32 10 23.8095 EXO1 0 genome.wustl.edu 37 1 242035457 242035457 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 242035457 242035457 T C SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.1391 p.V464A 0.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 51 0 0 43 3 6.52174 PLCH2 0 genome.wustl.edu 37 1 2430597 2430597 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 2430597 2430597 G A SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.2509 p.V837I 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 29 0 0 30 3 9.09091 ZBTB18 0 genome.wustl.edu 37 1 244217371 244217371 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 244217371 244217371 A G SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.295 p.K99E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 55 0 0 37 5 11.9048 ZBTB18 0 genome.wustl.edu 37 1 244218475 244218475 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 244218475 244218475 G A SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.1399 p.V467M 1.000 smart_Znf_C2H2-like,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 ZBTB18 HGNC ENSG00000179456 58 0 0 40 8 16.6667 ZNF124 0 genome.wustl.edu 37 1 247320205 247320205 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 247320205 247320205 C T SNP ZNF124 ENST00000543802 human ensembl 74_37 -1 known missense c.719 p.G240D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF124 HGNC ENSG00000196418 98 0 0 95 10 9.52381 NLRP3 0 genome.wustl.edu 37 1 247587740 247587740 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 247587740 247587740 T C SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.995 p.L332P 0.998 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 65 0 0 50 19 27.5362 OR11L1 0 genome.wustl.edu 37 1 248005009 248005009 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 248005009 248005009 G A SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known nonsense c.190 p.Q64* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 34 0 0 37 3 7.5 OR2L5 0 genome.wustl.edu 37 1 248185891 248185891 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 248185891 248185891 G A SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known silent c.642 p.A214 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 77 0 0 75 12 13.7931 OR2L3 0 genome.wustl.edu 37 1 248223987 248223987 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 248223987 248223987 G A SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known missense c.4 p.E2K 0.208 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 196 0 0 185 22 10.628 OR2M5 0 genome.wustl.edu 37 1 248308959 248308959 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 248308959 248308959 G A SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known silent c.510 p.G170 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 257 0 0 283 24 7.81759 DHDDS 0 genome.wustl.edu 37 1 26759476 26759476 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 26759476 26759476 C T SNP DHDDS ENST00000360009 human ensembl 74_37 +1 known missense c.40 p.R14W 1.000 NULL pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like - no_errors DHDDS HGNC ENSG00000117682 114 0 0 71 28 28.2828 RPS6KA1 0 genome.wustl.edu 37 1 26883500 26883500 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 26883500 26883500 T C SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known silent c.1020 p.R340 0.291 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 110 0 0 93 5 5.10204 GPR3 0 genome.wustl.edu 37 1 27720612 27720612 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 27720612 27720612 G T SNP GPR3 ENST00000374024 human ensembl 74_37 +1 known missense c.310 p.G104C 0.881 pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPR3,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPR3,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR3 HGNC ENSG00000181773 61 0 0 55 4 6.77966 PRDM16 0 genome.wustl.edu 37 1 3102980 3102980 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 3102980 3102980 T C SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.329 p.L110P 0.893 smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 48 0 0 32 18 36 SPOCD1 0 genome.wustl.edu 37 1 32280324 32280324 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 32280324 32280324 C A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.611 p.R204M 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 123 0 0 109 7 6.03448 LCK 0 genome.wustl.edu 37 1 32745341 32745341 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 32745341 32745341 C T SNP LCK ENST00000333070 human ensembl 74_37 +1 known missense c.1124 p.A375V 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_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 202 0 0 132 61 31.6062 MARCKSL1 0 genome.wustl.edu 37 1 32800476 32800476 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 32800476 32800476 A G SNP MARCKSL1 ENST00000329421 human ensembl 74_37 -1 known missense c.310 p.S104P 1.000 pfam_MARCKS,prints_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKSL1 HGNC ENSG00000175130 69 0 0 47 10 17.5439 TRIM62 0 genome.wustl.edu 37 1 33613190 33613190 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 33613190 33613190 G A SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known missense c.1016 p.S339L 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,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_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 67 0 0 59 17 22.3684 TRIM62 0 genome.wustl.edu 37 1 33625397 33625397 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 33625397 33625397 T C SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known missense c.653 p.Y218C 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 114 0 0 91 5 5.20833 CSMD2 0 genome.wustl.edu 37 1 34011774 34011774 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 34011774 34011774 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.8963 p.G2988D 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 39 0 0 21 12 36.3636 ZMYM4 0 genome.wustl.edu 37 1 35873680 35873680 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 35873680 35873680 T C SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.3868 p.F1290L 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 172 0 0 138 12 8 DFFB 0 genome.wustl.edu 37 1 3800085 3800085 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 3800085 3800085 G A SNP DFFB ENST00000378209 human ensembl 74_37 +1 known missense c.797 p.R266H 1.000 pfam_Apoptosis_DFF40 pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors DFFB HGNC ENSG00000169598 69 0 0 45 5 10 MTF1 0 genome.wustl.edu 37 1 38305654 38305654 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 38305654 38305654 C T SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known silent c.585 p.T195 0.995 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 102 0 0 64 23 26.4368 MFSD2A 0 genome.wustl.edu 37 1 40430970 40430970 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 40430970 40430970 C T SNP MFSD2A ENST00000372809 human ensembl 74_37 +1 known silent c.480 p.Y160 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2A HGNC ENSG00000168389 70 0 0 66 12 15.3846 CAP1 0 genome.wustl.edu 37 1 40529914 40529914 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 40529914 40529914 T A SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.310 p.L104M 0.986 pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 80 0 0 83 6 6.74157 PPT1 0 genome.wustl.edu 37 1 40546070 40546070 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 40546070 40546070 C T SNP PPT1 ENST00000433473 human ensembl 74_37 -1 known missense c.626 p.R209Q 1.000 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT1 HGNC ENSG00000131238 275 0 0 193 77 28.5185 PPT1 0 genome.wustl.edu 37 1 40555088 40555088 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 40555088 40555088 T C SNP PPT1 ENST00000433473 human ensembl 74_37 -1 known missense c.530 p.Q177R 0.998 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT1 HGNC ENSG00000131238 94 0 0 93 5 5.10204 FOXJ3 0 genome.wustl.edu 37 1 42645440 42645440 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 42645440 42645440 G A SNP FOXJ3 ENST00000361346 human ensembl 74_37 -1 known missense c.1810 p.R604W 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 187 0 0 153 14 8.38323 SLC2A1 0 genome.wustl.edu 37 1 43393384 43393384 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 43393384 43393384 G A SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known silent c.1170 p.I390 0.593 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 29 0 0 15 7 31.8182 EBNA1BP2 0 genome.wustl.edu 37 1 43636531 43636531 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 43636531 43636531 C T SNP EBNA1BP2 ENST00000431635 human ensembl 74_37 -1 known missense c.508 p.A170T 0.512 pfam_Ebp2 pfam_Ebp2 - no_errors EBNA1BP2 HGNC ENSG00000117395 210 0 0 161 50 23.6967 ZSWIM5 0 genome.wustl.edu 37 1 45484249 45484249 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 45484249 45484249 A G SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known silent c.3435 p.A1145 0.993 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 157 0 0 131 28 17.6101 MUTYH 0 genome.wustl.edu 37 1 45797709 45797709 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 45797709 45797709 T C SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.983 p.D328G 0.302 NULL 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 112 0 0 84 6 6.66667 AKR1A1 0 genome.wustl.edu 37 1 46033700 46033700 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 46033700 46033700 T C SNP AKR1A1 ENST00000351829 human ensembl 74_37 +1 known missense c.403 p.Y135H 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1A1 HGNC ENSG00000117448 42 0 0 35 4 10.2564 DMBX1 0 genome.wustl.edu 37 1 46977911 46977911 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 46977911 46977911 G T SNP DMBX1 ENST00000371956 human ensembl 74_37 +1 known silent c.894 p.A298 0.001 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DMBX1 HGNC ENSG00000197587 30 0 0 32 4 11.1111 CYP4X1 0 genome.wustl.edu 37 1 47512210 47512210 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 47512210 47512210 C T SNP CYP4X1 ENST00000371901 human ensembl 74_37 +1 known missense c.1145 p.P382L 0.487 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 72 0 0 58 14 19.4444 ZFYVE9 0 genome.wustl.edu 37 1 52805802 52805802 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 52805802 52805802 G A SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.3838 p.V1280I 0.005 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 47 0 0 37 15 28.8462 ZCCHC11 0 genome.wustl.edu 37 1 52940630 52940630 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 52940630 52940630 G A SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known silent c.2601 p.T867 0.001 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 50 0 0 48 24 33.3333 ZYG11B 0 genome.wustl.edu 37 1 53237431 53237431 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 53237431 53237431 C T SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known silent c.936 p.G312 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 135 0 0 96 30 23.8095 TMEM59 0 genome.wustl.edu 37 1 54509118 54509118 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 54509118 54509118 G A SNP TMEM59 ENST00000234831 human ensembl 74_37 -1 known silent c.471 p.S157 1.000 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC ENSG00000116209 67 0 0 64 5 7.24638 ACOT11 0 genome.wustl.edu 37 1 55073633 55073633 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 55073633 55073633 G A SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known silent c.1521 p.A507 0.007 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 113 0 0 81 20 19.802 FGGY 0 genome.wustl.edu 37 1 59812011 59812011 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 59812011 59812011 T C SNP FGGY ENST00000303721 human ensembl 74_37 +1 known missense c.406 p.Y136H 0.809 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 82 0 0 43 7 14 HOOK1 0 genome.wustl.edu 37 1 60336688 60336688 + RNA SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 60336688 60336688 T A SNP HOOK1 ENST00000491135 human ensembl 74_37 +1 known rna NULL NULL 0.066 - - - no_errors HOOK1 HGNC ENSG00000134709 22 0 0 26 10 27.7778 CHD5 0 genome.wustl.edu 37 1 6188970 6188970 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 6188970 6188970 A G SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.3547 p.S1183P 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 67 0 0 43 14 24.5614 ANGPTL3 0 genome.wustl.edu 37 1 63064448 63064448 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 63064448 63064448 C A SNP ANGPTL3 ENST00000371129 human ensembl 74_37 +1 known missense c.577 p.H193N 0.994 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL3 HGNC ENSG00000132855 47 0 0 43 18 29.5082 ITGB3BP 0 genome.wustl.edu 37 1 63920100 63920100 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 63920100 63920100 G T SNP ITGB3BP ENST00000371092 human ensembl 74_37 -1 known silent c.495 p.S165 0.002 pfam_CENP-R pfam_CENP-R - no_errors ITGB3BP HGNC ENSG00000142856 45 0 0 48 7 12.7273 ROR1 0 genome.wustl.edu 37 1 64624767 64624767 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 64624767 64624767 C T SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known silent c.1278 p.C426 0.996 pirsf_Tyr_kinase_rcpt_ROR pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 118 0 0 107 14 11.5702 ESPN 0 genome.wustl.edu 37 1 6520165 6520165 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 6520165 6520165 C T SNP ESPN ENST00000377828 human ensembl 74_37 +1 known nonsense c.2524 p.R842* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 55 0 0 47 6 11.3208 JAK1 0 genome.wustl.edu 37 1 65310493 65310493 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 65310493 65310493 C T SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.2195 p.G732D 0.998 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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_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 87 0 0 79 9 10.2273 JAK1 0 genome.wustl.edu 37 1 65310571 65310571 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 65310571 65310571 T G SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.2117 p.E706A 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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_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 60 0 0 55 4 6.77966 NOL9 0 genome.wustl.edu 37 1 6589186 6589186 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 6589186 6589186 C T SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known missense c.1693 p.A565T 0.878 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 55 0 0 38 17 30.9091 LRRC7 0 genome.wustl.edu 37 1 70488956 70488956 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 70488956 70488956 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1579 p.A527T 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 125 0 0 102 12 10.5263 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74716398 74716398 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 74716398 74716398 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.620 p.R207H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 57 0 0 40 20 33.3333 CAMTA1 0 genome.wustl.edu 37 1 7792523 7792523 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 7792523 7792523 T C SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.2930 p.M977T 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 57 0 0 41 6 12.766 NEXN 0 genome.wustl.edu 37 1 78392295 78392295 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 78392295 78392295 T C SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.686 p.M229T 0.596 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 78 0 0 78 5 6.0241 IFI44L 0 genome.wustl.edu 37 1 79107475 79107475 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 79107475 79107475 C T SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.1340 p.A447V 0.000 NULL superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 237 1 0.420168 197 68 25.6604 ELTD1 0 genome.wustl.edu 37 1 79356867 79356867 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 79356867 79356867 A T SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.2045 p.V682D 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 47 0 0 37 9 19.5652 TNFRSF9 0 genome.wustl.edu 37 1 7995165 7995165 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 7995165 7995165 G A SNP TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known missense c.452 p.T151M 0.973 smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 65 0 0 43 29 40.2778 WDR63 0 genome.wustl.edu 37 1 85560140 85560140 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 85560140 85560140 C T SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known nonsense c.1075 p.R359* 0.894 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 247 0 0 310 24 7.18563 CYR61 0 genome.wustl.edu 37 1 86047684 86047684 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 86047684 86047684 T C SNP CYR61 ENST00000451137 human ensembl 74_37 +1 known silent c.351 p.C117 1.000 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,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 CYR61 HGNC ENSG00000142871 120 0 0 111 9 7.5 SLC44A3 0 genome.wustl.edu 37 1 95323005 95323005 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 95323005 95323005 C T SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known missense c.1187 p.A396V 0.962 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 115 0 0 87 38 30.4 ABCC2 0 genome.wustl.edu 37 10 101591751 101591751 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 101591751 101591751 G T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.3121 p.A1041S 0.015 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 175 0 0 173 18 9.42408 FAM178A 0 genome.wustl.edu 37 10 102676365 102676365 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 102676365 102676365 A G SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.223 p.K75E 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 52 0 0 53 5 8.62069 KAZALD1 0 genome.wustl.edu 37 10 102822357 102822357 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 102822357 102822357 C T SNP KAZALD1 ENST00000370200 human ensembl 74_37 +1 known missense c.8 p.P3L 0.001 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors KAZALD1 HGNC ENSG00000107821 10 0 0 12 4 25 CYP17A1 0 genome.wustl.edu 37 10 104592406 104592406 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 104592406 104592406 T C SNP CYP17A1 ENST00000369887 human ensembl 74_37 -1 known missense c.1001 p.Q334R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP17A1 HGNC ENSG00000148795 107 0 0 86 14 14 COL17A1 0 genome.wustl.edu 37 10 105795035 105795035 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 105795035 105795035 G A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.3605 p.S1202L 0.947 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 20 0 0 18 6 25 CCDC147 0 genome.wustl.edu 37 10 106166475 106166475 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 106166475 106166475 T C SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.2180 p.I727T 1.000 superfamily_Homeodomain-like superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 158 0 0 164 9 5.20231 IDI2 0 genome.wustl.edu 37 10 1070565 1070565 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 1070565 1070565 G T SNP IDI2 ENST00000277517 human ensembl 74_37 -1 known silent c.99 p.A33 0.000 superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC ENSG00000148377 49 0 0 35 18 33.9623 XPNPEP1 0 genome.wustl.edu 37 10 111624956 111624956 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 111624956 111624956 A T SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known missense c.1987 p.S663T 0.998 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 104 0 0 90 10 10 SMC3 0 genome.wustl.edu 37 10 112361628 112361628 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 112361628 112361628 C T SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known silent c.2878 p.L960 0.998 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 88 0 0 103 6 5.50459 PNLIPRP3 0 genome.wustl.edu 37 10 118196325 118196325 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 118196325 118196325 A C SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.152 p.K51T 0.059 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 117 0 0 111 14 11.2 PROSER2 0 genome.wustl.edu 37 10 11908667 11908667 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 11908667 11908667 G A SNP PROSER2 ENST00000277570 human ensembl 74_37 +1 known silent c.276 p.P92 0.427 NULL NULL - no_errors PROSER2 HGNC ENSG00000148426 52 0 0 30 8 21.0526 EMX2 0 genome.wustl.edu 37 10 119303110 119303110 + Nonsense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 119303110 119303110 C A SNP EMX2 ENST00000553456 human ensembl 74_37 +1 known nonsense c.332 p.S111* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000170370 193 0 0 177 10 5.34759 CPXM2 0 genome.wustl.edu 37 10 125516743 125516743 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 125516743 125516743 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.1903 p.V635M 1.000 smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 141 0 0 118 42 26.25 LHPP 0 genome.wustl.edu 37 10 126186604 126186604 + Splice_Site SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 126186604 126186604 G T SNP LHPP ENST00000368842 human ensembl 74_37 +1 known splice_site c.532-1 e5-1 1.000 - - - no_errors LHPP HGNC ENSG00000107902 60 0 0 32 15 31.9149 MMP21 0 genome.wustl.edu 37 10 127462511 127462511 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 127462511 127462511 G A SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known missense c.586 p.R196C 0.157 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 16 0 0 17 7 29.1667 ADAM12 0 genome.wustl.edu 37 10 128076637 128076637 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 128076637 128076637 G A SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known silent c.78 p.C26 0.002 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 21 0 0 15 8 34.7826 DOCK1 0 genome.wustl.edu 37 10 129245732 129245732 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 129245732 129245732 G A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.5425 p.A1809T 0.945 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 22 0 0 23 6 20.6897 PWWP2B 0 genome.wustl.edu 37 10 134219544 134219544 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 134219544 134219544 G A SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known missense c.1540 p.G514S 0.812 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 80 0 0 53 21 28.3784 KNDC1 0 genome.wustl.edu 37 10 135015215 135015215 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 135015215 135015215 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3206 p.T1069I 0.001 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 10 0 0 13 3 18.75 NMT2 0 genome.wustl.edu 37 10 15175100 15175100 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 15175100 15175100 T C SNP NMT2 ENST00000378165 human ensembl 74_37 -1 known missense c.554 p.D185G 1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 98 0 0 76 9 10.5882 CUBN 0 genome.wustl.edu 37 10 17146585 17146585 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 17146585 17146585 A C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.1250 p.F417C 0.239 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_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 27 0 0 19 3 13.6364 ST8SIA6 0 genome.wustl.edu 37 10 17363172 17363172 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 17363172 17363172 G A SNP ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known missense c.902 p.P301L 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 209 0 0 225 14 5.85774 CACNB2 0 genome.wustl.edu 37 10 18828510 18828510 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 18828510 18828510 C T SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known nonsense c.1840 p.R614* 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 69 0 0 47 9 16.0714 PLXDC2 0 genome.wustl.edu 37 10 20465998 20465998 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 20465998 20465998 G A SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known silent c.954 p.S318 0.980 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 117 0 0 95 36 27.4809 PIP4K2A 0 genome.wustl.edu 37 10 22880634 22880634 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 22880634 22880634 T C SNP PIP4K2A ENST00000376573 human ensembl 74_37 -1 known missense c.416 p.D139G 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC ENSG00000150867 81 0 0 68 5 6.84932 ARMC3 0 genome.wustl.edu 37 10 23319585 23319585 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 23319585 23319585 A G SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known silent c.2106 p.V702 0.000 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 70 0 0 70 5 6.66667 KIAA1217 0 genome.wustl.edu 37 10 24832970 24832970 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 24832970 24832970 A G SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.4771 p.T1591A 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 109 0 0 66 23 25.8427 KIAA1217 0 genome.wustl.edu 37 10 24835181 24835181 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 24835181 24835181 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.5760 p.S1920 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 72 0 0 58 4 6.45161 MYO3A 0 genome.wustl.edu 37 10 26455050 26455050 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 26455050 26455050 C A SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known silent c.3054 p.T1018 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 MYO3A HGNC ENSG00000095777 213 0 0 191 26 11.9816 YME1L1 0 genome.wustl.edu 37 10 27436425 27436425 + Splice_Site SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 27436425 27436425 A G SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known splice_site c.339+2 e3+2 0.000 - - - no_errors YME1L1 HGNC ENSG00000136758 45 0 0 46 3 6.12245 ZNF248 0 genome.wustl.edu 37 10 38121220 38121220 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 38121220 38121220 T C SNP ZNF248 ENST00000357328 human ensembl 74_37 -1 known missense c.1063 p.N355D 0.253 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 88 0 0 93 5 5.10204 BMS1 0 genome.wustl.edu 37 10 43319100 43319100 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 43319100 43319100 G A SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known silent c.3324 p.A1108 1.000 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 80 0 0 54 18 25 OGDHL 0 genome.wustl.edu 37 10 50946001 50946001 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 50946001 50946001 G A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.2509 p.R837C 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,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 216 0 0 148 48 24.4898 AGAP6 0 genome.wustl.edu 37 10 51769465 51769465 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 51769465 51769465 A G SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.1511 p.E504G 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 247 1 0.403226 210 31 12.8631 DKK1 0 genome.wustl.edu 37 10 54074807 54074807 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 54074807 54074807 G A SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known missense c.368 p.R123H 0.999 pfam_Dickkopf_N pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 50 0 0 37 16 30.1887 FBXO18 0 genome.wustl.edu 37 10 5948257 5948257 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 5948257 5948257 C T SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.568 p.R190W 0.009 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 30 0 0 21 8 27.5862 SLC16A9 0 genome.wustl.edu 37 10 61412656 61412656 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 61412656 61412656 G A SNP SLC16A9 ENST00000395347 human ensembl 74_37 -1 known silent c.1404 p.G468 0.249 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 85 0 0 75 6 7.40741 ANK3 0 genome.wustl.edu 37 10 61846435 61846435 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 61846435 61846435 C A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.3748 p.G1250W 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 76 0 0 94 12 11.3208 TET1 0 genome.wustl.edu 37 10 70426987 70426987 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 70426987 70426987 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.4647 p.T1549 0.499 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 29 0 0 18 4 18.1818 TET1 0 genome.wustl.edu 37 10 70450635 70450635 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 70450635 70450635 A G SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.5475 p.S1825 0.913 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 101 0 0 79 8 9.1954 DDX50 0 genome.wustl.edu 37 10 70696828 70696828 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 70696828 70696828 C T SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known nonsense c.1732 p.R578* 1.000 pfam_GUCT 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 116 0 0 92 24 20.6897 SUPV3L1 0 genome.wustl.edu 37 10 70968476 70968476 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 70968476 70968476 G T SNP SUPV3L1 ENST00000359655 human ensembl 74_37 +1 known silent c.2046 p.T682 0.215 NULL pfam_SUV3_C,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 89 0 0 76 14 15.5556 SGPL1 0 genome.wustl.edu 37 10 72630885 72630885 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 72630885 72630885 T C SNP SGPL1 ENST00000373202 human ensembl 74_37 +1 known silent c.891 p.P297 0.367 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SGPL1 HGNC ENSG00000166224 64 0 0 46 24 34.2857 CDH23 0 genome.wustl.edu 37 10 73567408 73567408 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 73567408 73567408 G A SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known missense c.1724 p.R575H 0.097 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 36 0 0 25 6 19.3548 OIT3 0 genome.wustl.edu 37 10 74658557 74658557 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 74658557 74658557 C T SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known missense c.197 p.A66V 1.000 NULL pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 52 0 0 44 21 32.3077 CAMK2G 0 genome.wustl.edu 37 10 75620588 75620588 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 75620588 75620588 C T SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known missense c.220 p.V74M 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_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2G HGNC ENSG00000148660 105 0 0 102 8 7.27273 ZMIZ1 0 genome.wustl.edu 37 10 81051995 81051995 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 81051995 81051995 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.839 p.A280V 0.999 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 90 0 0 73 5 6.41026 ZMIZ1 0 genome.wustl.edu 37 10 81060696 81060696 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 81060696 81060696 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known silent c.2016 p.C672 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 49 0 0 38 3 7.31707 CDHR1 0 genome.wustl.edu 37 10 85973974 85973974 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 85973974 85973974 G A SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.2177 p.R726H 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 90 0 0 49 29 37.1795 PAPSS2 0 genome.wustl.edu 37 10 89487166 89487166 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 89487166 89487166 G A SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known missense c.1006 p.A336T 1.000 pfam_Sulfurylase_cat_dom,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 45 0 0 35 19 35.1852 CH25H 0 genome.wustl.edu 37 10 90966256 90966256 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 90966256 90966256 C T SNP CH25H ENST00000371852 human ensembl 74_37 -1 known missense c.794 p.R265Q 0.287 NULL pfam_Fatty_acid_hydroxylase - no_errors CH25H HGNC ENSG00000138135 20 0 0 19 7 26.9231 IFIT5 0 genome.wustl.edu 37 10 91177661 91177661 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 91177661 91177661 A G SNP IFIT5 ENST00000371795 human ensembl 74_37 +1 known silent c.705 p.E235 0.977 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT5 HGNC ENSG00000152778 62 0 0 52 26 33.3333 MYOF 0 genome.wustl.edu 37 10 95157162 95157162 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 95157162 95157162 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.1273 p.V425I 0.558 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,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 43 0 0 34 17 33.3333 ALDH18A1 0 genome.wustl.edu 37 10 97402812 97402812 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 97402812 97402812 G A SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known silent c.240 p.A80 0.113 pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 74 0 0 37 20 35.0877 CCNJ 0 genome.wustl.edu 37 10 97817760 97817760 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 97817760 97817760 C T SNP CCNJ ENST00000465148 human ensembl 74_37 +1 known missense c.914 p.T305M 0.640 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC ENSG00000107443 227 0 0 203 13 6.01852 TM9SF3 0 genome.wustl.edu 37 10 98336438 98336438 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 98336438 98336438 A C SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known missense c.251 p.L84R 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 144 0 0 143 9 5.92105 SLIT1 0 genome.wustl.edu 37 10 98766417 98766417 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 98766417 98766417 A G SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known silent c.3402 p.T1134 0.552 smart_Fol_N,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom 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 30 0 0 21 3 12.5 RRP12 0 genome.wustl.edu 37 10 99141484 99141484 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 99141484 99141484 C T SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known silent c.1308 p.T436 0.998 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 43 0 0 33 13 28.2609 CRTAC1 0 genome.wustl.edu 37 10 99677300 99677300 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 99677300 99677300 C T SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known silent c.672 p.A224 0.006 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 62 0 0 30 16 34.7826 MUC6 0 genome.wustl.edu 37 11 1026404 1026404 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 1026404 1026404 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.2469 p.P823 0.568 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 38 0 0 29 7 19.4444 MMP12 0 genome.wustl.edu 37 11 102742539 102742539 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 102742539 102742539 C T SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MMP12 HGNC ENSG00000110347 31 0 0 31 15 32.6087 CWF19L2 0 genome.wustl.edu 37 11 107219755 107219755 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 107219755 107219755 G A SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.2110 p.R704W 0.013 pfam_Cwf19-like_C_dom-1,superfamily_HIT-like pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 44 0 0 47 18 27.6923 CUL5 0 genome.wustl.edu 37 11 107959318 107959318 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 107959318 107959318 T C SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known silent c.1243 p.L415 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 61 0 0 68 8 10.5263 ATM 0 genome.wustl.edu 37 11 108201105 108201105 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 108201105 108201105 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.7472 p.W2491L 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 165 0 0 130 40 23.5294 MUC2 0 genome.wustl.edu 37 11 1095795 1095795 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 1095795 1095795 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.6306 p.R2102 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 18 0 0 14 9 39.1304 C11orf52 0 genome.wustl.edu 37 11 111796804 111796804 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 111796804 111796804 A C SNP C11orf52 ENST00000278601 human ensembl 74_37 +1 known missense c.253 p.S85R 0.693 NULL NULL - no_errors C11orf52 HGNC ENSG00000149300 33 0 0 31 8 20.5128 DIXDC1 0 genome.wustl.edu 37 11 111866190 111866190 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 111866190 111866190 G A SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known missense c.1588 p.D530N 1.000 NULL pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 64 0 0 42 19 31.1475 ZW10 0 genome.wustl.edu 37 11 113639659 113639659 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 113639659 113639659 A G SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.136 p.Y46H 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 116 0 0 141 11 7.23684 SIDT2 0 genome.wustl.edu 37 11 117049952 117049952 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 117049952 117049952 C T SNP SIDT2 ENST00000525339 human ensembl 74_37 +1 putative rna NULL NULL 0.045 - - - no_errors SIDT2 HGNC ENSG00000149577 15 0 0 17 13 43.3333 UBE4A 0 genome.wustl.edu 37 11 118252213 118252213 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 118252213 118252213 A G SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.2005 p.T669A 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 121 0 0 127 10 7.29927 PHLDB1 0 genome.wustl.edu 37 11 118516165 118516165 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 118516165 118516165 C T SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known silent c.3213 p.H1071 0.824 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 96 0 0 71 30 29.703 FOXR1 0 genome.wustl.edu 37 11 118849724 118849724 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 118849724 118849724 C T SNP FOXR1 ENST00000317011 human ensembl 74_37 +1 known missense c.194 p.P65L 0.121 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR1 HGNC ENSG00000176302 228 0 0 190 26 12.037 ARHGEF12 0 genome.wustl.edu 37 11 120317769 120317769 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 120317769 120317769 A T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.1507 p.I503F 1.000 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 192 0 0 173 13 6.98925 GRIK4 0 genome.wustl.edu 37 11 120776003 120776003 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 120776003 120776003 A C SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.1277 p.N426T 1.000 smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 232 0 0 170 12 6.59341 TBCEL 0 genome.wustl.edu 37 11 120929174 120929174 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 120929174 120929174 T A SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known missense c.833 p.I278K 0.995 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 143 0 0 176 13 6.87831 TECTA 0 genome.wustl.edu 37 11 121000699 121000699 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 121000699 121000699 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.2720 p.R907Q 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 52 0 0 44 10 18.5185 GRAMD1B 0 genome.wustl.edu 37 11 123483485 123483485 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 123483485 123483485 C T SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known missense c.1507 p.R503C 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 22 0 0 13 3 18.75 ACRV1 0 genome.wustl.edu 37 11 125547803 125547803 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 125547803 125547803 G A SNP ACRV1 ENST00000533904 human ensembl 74_37 -1 known missense c.442 p.H148Y 0.001 NULL NULL - no_errors ACRV1 HGNC ENSG00000134940 221 0 0 173 63 26.6949 SRPR 0 genome.wustl.edu 37 11 126136701 126136701 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 126136701 126136701 C T SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.643 p.E215K 1.000 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 183 0 0 120 62 34.0659 KIRREL3 0 genome.wustl.edu 37 11 126396494 126396494 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 126396494 126396494 G A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.222 p.Y74 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 19 0 0 14 8 36.3636 MUC5B 0 genome.wustl.edu 37 11 1265003 1265003 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 1265003 1265003 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.6902 p.P2301H 0.007 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 152 0 0 120 11 8.39695 MUC5B 0 genome.wustl.edu 37 11 1267404 1267404 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 1267404 1267404 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.9303 p.S3101 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 127 0 0 74 24 24.4898 MUC5B 0 genome.wustl.edu 37 11 1275943 1275943 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 1275943 1275943 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.15506 p.P5169L 0.000 pfam_VWF_type-D,smart_VWF_type-D 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 43 0 0 26 7 21.2121 THYN1 0 genome.wustl.edu 37 11 134121181 134121181 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 134121181 134121181 C T SNP THYN1 ENST00000341541 human ensembl 74_37 -1 known missense c.65 p.R22H 0.000 NULL pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 307 0 0 285 30 9.52381 SPON1 0 genome.wustl.edu 37 11 14063134 14063134 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 14063134 14063134 C T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors SPON1 HGNC ENSG00000152268 132 0 0 103 38 26.9504 MRGPRX4 0 genome.wustl.edu 37 11 18195721 18195721 + Silent SNP G G C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 18195721 18195721 G C SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known silent c.918 p.G306 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 62 0 0 34 13 27.6596 IGSF22 0 genome.wustl.edu 37 11 18743459 18743459 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 18743459 18743459 T C SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.239 p.E80G 0.840 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 93 0 0 98 7 6.66667 MRGPRX2 0 genome.wustl.edu 37 11 19077849 19077849 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 19077849 19077849 A G SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.101 p.V34A 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 192 0 0 200 20 9.09091 SLC17A6 0 genome.wustl.edu 37 11 22364897 22364897 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 22364897 22364897 G A SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known silent c.444 p.R148 0.845 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 63 0 0 54 5 8.47458 PAX6 0 genome.wustl.edu 37 11 31823241 31823241 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 31823241 31823241 T C SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known silent c.267 p.K89 0.986 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 80 0 0 70 9 11.3924 CSTF3 0 genome.wustl.edu 37 11 33124659 33124659 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 33124659 33124659 T C SNP CSTF3 ENST00000323959 human ensembl 74_37 -1 known silent c.657 p.V219 0.998 NULL pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 78 0 0 83 7 7.77778 RAG1 0 genome.wustl.edu 37 11 36595836 36595836 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 36595836 36595836 T C SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.982 p.C328R 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 61 0 0 68 8 10.5263 STIM1 0 genome.wustl.edu 37 11 4045107 4045107 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 4045107 4045107 T C SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known missense c.275 p.L92P 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 47 0 0 44 7 13.7255 PEX16 0 genome.wustl.edu 37 11 45936234 45936234 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 45936234 45936234 A G SNP PEX16 ENST00000241041 human ensembl 74_37 -1 known silent c.462 p.D154 0.947 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 134 0 0 81 23 22.1154 CHRM4 0 genome.wustl.edu 37 11 46407805 46407805 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 46407805 46407805 G A SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known silent c.303 p.G101 0.732 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 30 0 0 24 14 36.8421 ARHGAP1 0 genome.wustl.edu 37 11 46701278 46701278 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 46701278 46701278 A T SNP ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known missense c.947 p.V316D 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 110 0 0 84 10 10.6383 OR52R1 0 genome.wustl.edu 37 11 4825255 4825255 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 4825255 4825255 A G SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known missense c.593 p.M198T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 116 0 0 98 16 14.0351 OR51S1 0 genome.wustl.edu 37 11 4870019 4870019 + Nonsense_Mutation SNP G G C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 4870019 4870019 G C SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known nonsense c.420 p.Y140* 0.053 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 OR51S1 HGNC ENSG00000176922 131 0 0 94 9 8.73786 LOC440040 0 genome.wustl.edu 37 11 49598008 49598008 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 49598008 49598008 G A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 25 0 0 24 13 35.1351 OR4A5 0 genome.wustl.edu 37 11 51412264 51412264 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 51412264 51412264 C A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known silent c.132 p.V44 0.978 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 OR4A5 HGNC ENSG00000221840 52 0 0 40 14 25.9259 OR51I1 0 genome.wustl.edu 37 11 5462646 5462646 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 5462646 5462646 G T SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known missense c.99 p.F33L 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 95 0 0 80 23 22.3301 OR4C15 0 genome.wustl.edu 37 11 55322033 55322033 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 55322033 55322033 T C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.251 p.L84S 0.957 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 145 0 0 143 16 10.0629 OR5J2 0 genome.wustl.edu 37 11 55944903 55944903 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 55944903 55944903 A G SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known silent c.810 p.Q270 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 72 0 0 49 21 30 OR5J2 0 genome.wustl.edu 37 11 55944912 55944912 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 55944912 55944912 G A SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known silent c.819 p.V273 0.406 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 69 0 0 41 17 29.3103 OR5J2 0 genome.wustl.edu 37 11 55944930 55944930 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 55944930 55944930 G A SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known silent c.837 p.T279 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 54 0 0 35 14 28.5714 OR5J2 0 genome.wustl.edu 37 11 55944935 55944935 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 55944935 55944935 G T SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.842 p.G281V 0.799 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 49 0 0 31 13 29.5455 OR5AR1 0 genome.wustl.edu 37 11 56431414 56431414 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 56431414 56431414 T C SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known missense c.253 p.F85L 0.036 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 199 0 0 201 26 11.4537 TMX2 0 genome.wustl.edu 37 11 57506647 57506647 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 57506647 57506647 T C SNP TMX2 ENST00000278422 human ensembl 74_37 +1 known missense c.659 p.L220P 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX2 HGNC ENSG00000213593 191 0 0 119 61 33.8889 TAF6L 0 genome.wustl.edu 37 11 62543364 62543364 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 62543364 62543364 G A SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.109 p.A37T 0.990 pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_TAF_TATA-bd pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 54 0 0 34 13 27.6596 TAF6L 0 genome.wustl.edu 37 11 62554095 62554095 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 62554095 62554095 G T SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.1196 p.S399I 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 17 0 0 21 7 25 GPR137 0 genome.wustl.edu 37 11 64054186 64054186 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 64054186 64054186 G A SNP GPR137 ENST00000313074 human ensembl 74_37 +1 known missense c.190 p.A64T 0.996 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 241 0 0 133 53 28.4946 MRPL49 0 genome.wustl.edu 37 11 64893062 64893062 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 64893062 64893062 G A SNP MRPL49 ENST00000279242 human ensembl 74_37 +1 known missense c.332 p.R111Q 1.000 pfam_Ribosomal_L49/IMG2 pfam_Ribosomal_L49/IMG2 - no_errors MRPL49 HGNC ENSG00000149792 79 0 0 63 20 24.0964 CAPN1 0 genome.wustl.edu 37 11 64972290 64972290 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 64972290 64972290 C T SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known silent c.1302 p.F434 0.000 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 CAPN1 HGNC ENSG00000014216 53 0 0 32 13 28.8889 MAP3K11 0 genome.wustl.edu 37 11 65367065 65367065 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 65367065 65367065 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.2006 p.R669H 0.198 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 42 0 0 32 11 25.5814 AP5B1 0 genome.wustl.edu 37 11 65545802 65545802 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 65545802 65545802 G A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.2162 p.A721V 0.001 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 25 0 0 17 6 26.087 AP5B1 0 genome.wustl.edu 37 11 65546165 65546165 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 65546165 65546165 G A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.1799 p.A600V 0.976 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 13 0 0 7 4 36.3636 CTSW 0 genome.wustl.edu 37 11 65650135 65650135 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 65650135 65650135 C T SNP CTSW ENST00000307886 human ensembl 74_37 +1 known silent c.594 p.D198 0.664 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 97 0 0 54 19 26.0274 KLC2 0 genome.wustl.edu 37 11 66033912 66033912 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 66033912 66033912 G A SNP KLC2 ENST00000316924 human ensembl 74_37 +1 known missense c.1736 p.R579Q 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 59 0 0 49 20 28.9855 SLC29A2 0 genome.wustl.edu 37 11 66130984 66130984 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 66130984 66130984 C T SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known missense c.1294 p.A432T 0.498 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 28 0 0 16 5 23.8095 C11orf80 0 genome.wustl.edu 37 11 66610523 66610523 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 66610523 66610523 C A SNP C11orf80 ENST00000360962 human ensembl 74_37 +1 known missense c.1951 p.L651I 0.107 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 9 0 0 6 3 33.3333 NDUFV1 0 genome.wustl.edu 37 11 67377024 67377024 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 67377024 67377024 T G SNP NDUFV1 ENST00000322776 human ensembl 74_37 +1 known missense c.428 p.L143R 1.000 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 184 1 0.540541 163 18 9.94475 SUV420H1 0 genome.wustl.edu 37 11 67941281 67941281 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 67941281 67941281 T C SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.643 p.T215A 1.000 smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 93 0 0 80 11 12.0879 CPT1A 0 genome.wustl.edu 37 11 68530165 68530165 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 68530165 68530165 G A SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.1805 p.T602M 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 69 0 0 59 10 14.4928 CTTN 0 genome.wustl.edu 37 11 70261793 70261793 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 70261793 70261793 G A SNP CTTN ENST00000301843 human ensembl 74_37 +1 known missense c.427 p.G143R 1.000 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 214 0 0 195 19 8.8785 NLRP14 0 genome.wustl.edu 37 11 7065123 7065123 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 7065123 7065123 T C SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known silent c.1866 p.L622 0.985 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 101 0 0 101 9 8.18182 INPPL1 0 genome.wustl.edu 37 11 71939260 71939260 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 71939260 71939260 G A SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.209 p.R70H 0.999 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 75 0 0 73 6 7.59494 ARHGEF17 0 genome.wustl.edu 37 11 73071483 73071483 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 73071483 73071483 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.4325 p.R1442Q 0.997 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 169 0 0 149 11 6.875 ARHGEF17 0 genome.wustl.edu 37 11 73071553 73071553 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 73071553 73071553 C A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known silent c.4395 p.A1465 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 93 0 0 85 16 15.8416 MAP6 0 genome.wustl.edu 37 11 75298476 75298476 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 75298476 75298476 A G SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known silent c.2070 p.H690 0.000 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 98 0 0 65 29 30.8511 PPFIBP2 0 genome.wustl.edu 37 11 7586879 7586879 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 7586879 7586879 A G SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known missense c.160 p.I54V 0.948 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 153 0 0 107 26 19.5489 CCDC83 0 genome.wustl.edu 37 11 85593593 85593593 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 85593593 85593593 G A SNP CCDC83 ENST00000280245 human ensembl 74_37 +1 known missense c.218 p.R73Q 0.011 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 101 0 0 67 25 27.1739 GRM5-AS1 0 genome.wustl.edu 37 11 88241732 88241732 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 88241732 88241732 C T SNP GRM5-AS1 ENST00000526448 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRM5-AS1 HGNC ENSG00000255082 15 0 0 16 8 33.3333 MTNR1B 0 genome.wustl.edu 37 11 92702976 92702976 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 92702976 92702976 C T SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known missense c.85 p.R29W 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 23 0 0 13 5 27.7778 CCDC67 0 genome.wustl.edu 37 11 93103271 93103271 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 93103271 93103271 G A SNP CCDC67 ENST00000298050 human ensembl 74_37 +1 known silent c.465 p.K155 1.000 superfamily_MHC_II-assoc_invariant_trimer superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 22 0 0 7 2 22.2222 AMOTL1 0 genome.wustl.edu 37 11 94602448 94602448 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 94602448 94602448 C A SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known silent c.2574 p.A858 0.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 19 0 0 19 3 13.6364 ZNF143 0 genome.wustl.edu 37 11 9492923 9492923 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 9492923 9492923 C T SNP ZNF143 ENST00000396602 human ensembl 74_37 +1 known missense c.68 p.A23V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 108 0 0 69 22 24.1758 SLC5A8 0 genome.wustl.edu 37 12 101555808 101555808 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 101555808 101555808 C T SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known missense c.1574 p.S525N 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 258 1 0.3861 279 17 5.74324 CLEC1A 0 genome.wustl.edu 37 12 10224068 10224068 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 10224068 10224068 C T SNP CLEC1A ENST00000315330 human ensembl 74_37 -1 known missense c.707 p.C236Y 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1A HGNC ENSG00000150048 130 0 0 104 42 28.7671 SART3 0 genome.wustl.edu 37 12 108918245 108918245 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 108918245 108918245 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known silent c.2562 p.A854 0.152 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 65 0 0 56 17 23.2877 CUX2 0 genome.wustl.edu 37 12 111652089 111652089 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 111652089 111652089 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.149 p.R50Q 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 52 0 0 55 8 12.6984 ALDH2 0 genome.wustl.edu 37 12 112230515 112230515 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 112230515 112230515 C T SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.1012 p.R338W 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 14 0 0 10 4 28.5714 HECTD4 0 genome.wustl.edu 37 12 112711506 112711506 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 112711506 112711506 T G SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.1349 p.Y450S 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 158 0 0 123 12 8.88889 RASAL1 0 genome.wustl.edu 37 12 113553825 113553825 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 113553825 113553825 G A SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known missense c.763 p.R255C 1.000 superfamily_C2_dom,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 67 0 0 49 10 16.9492 LHX5 0 genome.wustl.edu 37 12 113907132 113907132 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 113907132 113907132 G A SNP LHX5 ENST00000261731 human ensembl 74_37 -1 known silent c.192 p.C64 0.968 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX5 HGNC ENSG00000089116 57 0 0 48 4 7.69231 FBXW8 0 genome.wustl.edu 37 12 117365934 117365934 + Splice_Site SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 117365934 117365934 T C SNP FBXW8 ENST00000309909 human ensembl 74_37 +1 known splice_site c.423+2 e2+2 1.000 - - - no_errors FBXW8 HGNC ENSG00000174989 74 0 0 72 9 11.1111 SRRM4 0 genome.wustl.edu 37 12 119563220 119563220 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 119563220 119563220 C T SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.550 p.R184C 0.791 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 55 0 0 49 13 20.9677 HSPB8 0 genome.wustl.edu 37 12 119617314 119617314 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 119617314 119617314 C T SNP HSPB8 ENST00000281938 human ensembl 74_37 +1 known missense c.197 p.S66L 0.998 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB8 HGNC ENSG00000152137 76 0 0 50 21 29.5775 GCN1L1 0 genome.wustl.edu 37 12 120569133 120569133 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 120569133 120569133 G A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.7419 p.D2473 0.942 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 115 0 0 60 6 9.09091 GCN1L1 0 genome.wustl.edu 37 12 120597681 120597681 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 120597681 120597681 G A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.2697 p.N899 0.864 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 70 0 0 44 7 13.7255 SPPL3 0 genome.wustl.edu 37 12 121205374 121205374 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 121205374 121205374 T C SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known missense c.796 p.M266V 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors SPPL3 HGNC ENSG00000157837 58 0 0 60 6 9.09091 CAMKK2 0 genome.wustl.edu 37 12 121678602 121678602 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 121678602 121678602 A G SNP CAMKK2 ENST00000324774 human ensembl 74_37 -1 known missense c.1667 p.V556A 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 CAMKK2 HGNC ENSG00000110931 88 0 0 66 4 5.71429 TMEM120B 0 genome.wustl.edu 37 12 122218958 122218958 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 122218958 122218958 G A SNP TMEM120B ENST00000538055 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM120B HGNC ENSG00000188735 44 0 0 52 8 13.3333 LRRC43 0 genome.wustl.edu 37 12 122684777 122684777 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 122684777 122684777 T G SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.1391 p.V464G 0.110 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 139 0 0 102 25 19.685 PITPNM2 0 genome.wustl.edu 37 12 123471271 123471271 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 123471271 123471271 G A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known silent c.3519 p.G1173 0.934 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 68 0 0 52 21 28.7671 CDK2AP1 0 genome.wustl.edu 37 12 123749783 123749783 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 123749783 123749783 C T SNP CDK2AP1 ENST00000261692 human ensembl 74_37 -1 known silent c.240 p.T80 0.127 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 - no_errors CDK2AP1 HGNC ENSG00000111328 244 0 0 204 14 6.42202 DNAH10 0 genome.wustl.edu 37 12 124270304 124270304 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 124270304 124270304 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.1059 p.H353 0.050 pfam_Dynein_heavy_dom-1 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 115 0 0 64 10 13.5135 GPR19 0 genome.wustl.edu 37 12 12815196 12815196 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 12815196 12815196 C T SNP GPR19 ENST00000332427 human ensembl 74_37 -1 known missense c.187 p.G63R 0.993 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 121 0 0 92 8 8 GPR133 0 genome.wustl.edu 37 12 131471729 131471729 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 131471729 131471729 A G SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.580 p.S194G 0.000 superfamily_ConA-like_lec_gl_sf pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 124 0 0 87 8 8.42105 MMP17 0 genome.wustl.edu 37 12 132325164 132325164 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 132325164 132325164 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known missense c.469 p.R157C 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 109 0 0 90 26 22.4138 KIAA1467 0 genome.wustl.edu 37 12 13232857 13232857 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 13232857 13232857 C T SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known nonsense c.1777 p.Q593* 0.796 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 50 0 0 38 17 30.9091 GOLT1B 0 genome.wustl.edu 37 12 21665245 21665245 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 21665245 21665245 G A SNP GOLT1B ENST00000229314 human ensembl 74_37 +1 known missense c.313 p.V105I 1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1B HGNC ENSG00000111711 101 0 0 106 6 5.35714 SOX5 0 genome.wustl.edu 37 12 23999035 23999035 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 23999035 23999035 G A SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known silent c.363 p.G121 0.966 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 114 0 0 76 31 28.972 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12D 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 33 0 0 25 8 24.2424 ITPR2 0 genome.wustl.edu 37 12 26551954 26551954 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 26551954 26551954 T C SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.7551 p.R2517 0.991 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,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 19 0 0 14 9 39.1304 CACNA1C 0 genome.wustl.edu 37 12 2786373 2786373 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 2786373 2786373 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.4942 p.A1648T 0.989 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 23 0 0 15 4 21.0526 IPO8 0 genome.wustl.edu 37 12 30792613 30792613 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 30792613 30792613 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known silent c.2325 p.T775 0.271 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 152 0 0 143 8 5.29801 IPO8 0 genome.wustl.edu 37 12 30826944 30826944 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 30826944 30826944 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known missense c.889 p.Y297H 1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 57 0 0 48 5 9.43396 PRMT8 0 genome.wustl.edu 37 12 3701425 3701425 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 3701425 3701425 G A SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known silent c.1008 p.K336 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 247 1 0.403226 203 29 12.5 PCED1B 0 genome.wustl.edu 37 12 47629940 47629940 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 47629940 47629940 C T SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.1094 p.A365V 0.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 157 0 0 87 27 23.6842 ZNF641 0 genome.wustl.edu 37 12 48737243 48737243 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 48737243 48737243 G A SNP ZNF641 ENST00000301042 human ensembl 74_37 -1 known missense c.830 p.S277F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF641 HGNC ENSG00000167528 41 0 0 55 6 9.83607 ADCY6 0 genome.wustl.edu 37 12 49165623 49165623 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 49165623 49165623 G A SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.2921 p.S974L 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 88 0 0 50 28 35.8974 DDX23 0 genome.wustl.edu 37 12 49226331 49226331 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 49226331 49226331 G T SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.1829 p.P610H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 41 0 0 35 7 16.6667 WNT10B 0 genome.wustl.edu 37 12 49361903 49361903 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 49361903 49361903 G A SNP WNT10B ENST00000301061 human ensembl 74_37 -1 known silent c.537 p.S179 1.000 pfam_Wnt,smart_Wnt,prints_Wnt10 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10B HGNC ENSG00000169884 42 0 0 34 4 10.5263 KMT2D 0 genome.wustl.edu 37 12 49425776 49425776 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 49425776 49425776 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.12712 p.R4238C 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 24 0 0 19 11 36.6667 KCNH3 0 genome.wustl.edu 37 12 49948156 49948156 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 49948156 49948156 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1955 p.R652Q 0.029 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 174 0 0 125 13 9.42029 GPD1 0 genome.wustl.edu 37 12 50498451 50498451 + Nonsense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 50498451 50498451 G T SNP GPD1 ENST00000301149 human ensembl 74_37 +1 known nonsense c.136 p.G46* 0.574 pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 157 0 0 139 12 7.94702 LETMD1 0 genome.wustl.edu 37 12 51450008 51450008 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 51450008 51450008 C T SNP LETMD1 ENST00000262055 human ensembl 74_37 +1 known nonsense c.742 p.Q248* 0.281 pfam_LETM1 pfam_LETM1 - no_errors LETMD1 HGNC ENSG00000050426 118 0 0 121 11 8.33333 CSRNP2 0 genome.wustl.edu 37 12 51461489 51461489 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 51461489 51461489 C T SNP CSRNP2 ENST00000228515 human ensembl 74_37 -1 known silent c.675 p.A225 0.008 prints_Cys/Ser-rich_nuc_prot prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 141 0 0 87 27 23.6842 CSRNP2 0 genome.wustl.edu 37 12 51470194 51470194 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 51470194 51470194 G A SNP CSRNP2 ENST00000228515 human ensembl 74_37 -1 known missense c.151 p.P51S 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 76 0 0 61 7 10.2941 KCNA5 0 genome.wustl.edu 37 12 5154886 5154886 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 5154886 5154886 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.1573 p.R525W 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 64 0 0 34 10 22.7273 DAZAP2 0 genome.wustl.edu 37 12 51634184 51634184 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 51634184 51634184 C A SNP DAZAP2 ENST00000549555 human ensembl 74_37 +1 known missense c.71 p.P24H 1.000 NULL pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 110 1 0.900901 64 25 28.0899 ACVR1B 0 genome.wustl.edu 37 12 52377793 52377793 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 52377793 52377793 C A SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known silent c.822 p.T274 0.986 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 45 0 0 56 4 6.66667 KRT80 0 genome.wustl.edu 37 12 52567501 52567501 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 52567501 52567501 G A SNP KRT80 ENST00000394815 human ensembl 74_37 -1 known silent c.714 p.V238 0.967 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT80 HGNC ENSG00000167767 103 0 0 57 19 25 KRT6B 0 genome.wustl.edu 37 12 52845641 52845641 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 52845641 52845641 C A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known silent c.222 p.G74 0.920 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 38 0 0 20 16 44.4444 KRT6C 0 genome.wustl.edu 37 12 52867410 52867410 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 52867410 52867410 C T SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.112 p.V38M 0.953 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 78 0 0 53 18 25.3521 KRT79 0 genome.wustl.edu 37 12 53217775 53217775 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 53217775 53217775 C G SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.1042 p.A348P 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 34 0 0 53 3 5.35714 TENC1 0 genome.wustl.edu 37 12 53457555 53457555 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 53457555 53457555 G A SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known silent c.4149 p.P1383 0.636 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 209 0 0 138 42 23.3333 SOAT2 0 genome.wustl.edu 37 12 53517580 53517580 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 53517580 53517580 C T SNP SOAT2 ENST00000301466 human ensembl 74_37 +1 known silent c.1441 p.L481 0.991 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 113 0 0 84 17 16.8317 ESPL1 0 genome.wustl.edu 37 12 53686104 53686104 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 53686104 53686104 A C SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.5839 p.S1947R 0.003 pfam_Peptidase_C50 pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 113 0 0 81 29 26.3636 HNRNPA1 0 genome.wustl.edu 37 12 54676031 54676031 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 54676031 54676031 G T SNP HNRNPA1 ENST00000340913 human ensembl 74_37 +1 known missense c.437 p.R146M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1 HGNC ENSG00000135486 58 0 0 46 21 31.3433 NCKAP1L 0 genome.wustl.edu 37 12 54930016 54930016 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 54930016 54930016 C T SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known silent c.3060 p.S1020 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 38 0 0 40 5 11.1111 SUOX 0 genome.wustl.edu 37 12 56397718 56397718 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 56397718 56397718 G A SNP SUOX ENST00000266971 human ensembl 74_37 +1 known missense c.545 p.R182H 1.000 superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Cyt_B5-like_heme/steroid-bd pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 40 0 0 29 6 17.1429 SMARCC2 0 genome.wustl.edu 37 12 56579984 56579984 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 56579984 56579984 C A SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.272 p.C91F 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 116 0 0 69 24 25.8065 CS 0 genome.wustl.edu 37 12 56669893 56669893 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 56669893 56669893 G A SNP CS ENST00000546891 human ensembl 74_37 -1 known missense c.515 p.A172V 1.000 NULL pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core - no_errors CS HGNC ENSG00000062485 71 0 0 52 16 23.5294 PAN2 0 genome.wustl.edu 37 12 56716264 56716264 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 56716264 56716264 G A SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known silent c.2652 p.G884 0.015 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 61 0 0 56 13 18.8406 PAN2 0 genome.wustl.edu 37 12 56718366 56718366 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 56718366 56718366 T C SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.1727 p.Q576R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 85 0 0 93 5 5.10204 NACA 0 genome.wustl.edu 37 12 57107321 57107321 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 57107321 57107321 C T SNP NACA ENST00000454682 human ensembl 74_37 -1 known silent c.5970 p.K1990 1.000 pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 93 0 0 123 11 8.20896 KIF5A 0 genome.wustl.edu 37 12 57963455 57963455 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 57963455 57963455 G A SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.1106 p.R369Q 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 43 0 0 26 12 31.5789 MARCH9 0 genome.wustl.edu 37 12 58152041 58152041 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 58152041 58152041 A T SNP MARCH9 ENST00000266643 human ensembl 74_37 +1 known missense c.664 p.I222F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH9 HGNC ENSG00000139266 45 0 0 54 6 10 HELB 0 genome.wustl.edu 37 12 66696454 66696454 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 66696454 66696454 A G SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.71 p.E24G 0.024 NULL superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 39 0 0 42 3 6.66667 CHD4 0 genome.wustl.edu 37 12 6707121 6707121 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 6707121 6707121 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.1831 p.R611C 1.000 superfamily_Chromodomain-like pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 142 0 0 105 50 32.2581 GLIPR1 0 genome.wustl.edu 37 12 75884201 75884201 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 75884201 75884201 A G SNP GLIPR1 ENST00000266659 human ensembl 74_37 +1 known missense c.436 p.S146G 0.959 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC ENSG00000139278 50 0 0 28 9 24.3243 SLC2A14 0 genome.wustl.edu 37 12 7970451 7970451 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 7970451 7970451 G A SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known silent c.1320 p.V440 0.996 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 105 0 0 63 26 29.2135 MYF5 0 genome.wustl.edu 37 12 81111208 81111208 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 81111208 81111208 G A SNP MYF5 ENST00000228644 human ensembl 74_37 +1 known silent c.366 p.E122 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 104 0 0 100 11 9.90991 PPFIA2 0 genome.wustl.edu 37 12 81741514 81741514 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 81741514 81741514 C T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.2030 p.R677H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 91 0 0 71 8 10.1266 EEA1 0 genome.wustl.edu 37 12 93192691 93192691 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 93192691 93192691 G A SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.2944 p.L982F 0.006 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 75 0 0 81 10 10.989 CCDC41 0 genome.wustl.edu 37 12 94806263 94806263 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 94806263 94806263 C T SNP CCDC41 ENST00000339839 human ensembl 74_37 -1 known missense c.4 p.V2I 0.997 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 71 0 0 56 11 16.4179 FGD6 0 genome.wustl.edu 37 12 95604120 95604120 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 95604120 95604120 T C SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.940 p.T314A 0.998 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 110 0 0 103 9 8.03571 CDK17 0 genome.wustl.edu 37 12 96674556 96674556 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 96674556 96674556 G A SNP CDK17 ENST00000543119 human ensembl 74_37 -1 known nonsense c.1564 p.R522* 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 CDK17 HGNC ENSG00000059758 42 0 0 29 13 30.9524 C12orf55 0 genome.wustl.edu 37 12 97043775 97043775 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 97043775 97043775 A C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4797 p.K1599N 0.845 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 79 0 0 85 12 12.3711 TMCO3 0 genome.wustl.edu 37 13 114152698 114152698 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 114152698 114152698 T C SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known silent c.486 p.H162 1.000 NULL pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 51 0 0 54 5 8.47458 MICU2 0 genome.wustl.edu 37 13 22084194 22084194 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 22084194 22084194 C T SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known missense c.710 p.R237H 0.077 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 48 0 0 39 13 25 SACS 0 genome.wustl.edu 37 13 23905259 23905259 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 23905259 23905259 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.12756 p.S4252 0.981 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 35 0 0 43 10 18.8679 SACS 0 genome.wustl.edu 37 13 23928962 23928962 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 23928962 23928962 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.1789 p.S597A 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 75 0 0 60 5 7.69231 PARP4 0 genome.wustl.edu 37 13 25067820 25067820 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 25067820 25067820 C T SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.793 p.D265N 0.942 superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 38 0 0 57 6 9.52381 NUPL1 0 genome.wustl.edu 37 13 25905705 25905705 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 25905705 25905705 G A SNP NUPL1 ENST00000463407 human ensembl 74_37 +1 known missense c.1444 p.A482T 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 18 0 0 19 9 32.1429 WASF3 0 genome.wustl.edu 37 13 27257105 27257105 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 27257105 27257105 C T SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known nonsense c.1345 p.R449* 0.991 pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 116 0 0 55 21 27.6316 NBEA 0 genome.wustl.edu 37 13 35733851 35733851 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 35733851 35733851 T C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.3543 p.S1181 0.935 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 30 0 0 20 8 28.5714 FREM2 0 genome.wustl.edu 37 13 39261570 39261570 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 39261570 39261570 T G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.89 p.L30R 0.013 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 16 0 0 11 3 21.4286 MTRF1 0 genome.wustl.edu 37 13 41800599 41800599 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 41800599 41800599 T G SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known missense c.1133 p.K378T 0.003 pfam_Pep_chain_release_fac_I_II pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 71 0 0 52 30 36.5854 COG3 0 genome.wustl.edu 37 13 46083848 46083848 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 46083848 46083848 C A SNP COG3 ENST00000349995 human ensembl 74_37 +1 known missense c.1616 p.P539H 1.000 NULL pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC ENSG00000136152 234 0 0 180 63 25.9259 PHF11 0 genome.wustl.edu 37 13 50095067 50095067 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 50095067 50095067 G A SNP PHF11 ENST00000378319 human ensembl 74_37 +1 known missense c.496 p.A166T 0.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF11 HGNC ENSG00000136147 49 0 0 46 5 9.80392 HNRNPA1L2 0 genome.wustl.edu 37 13 53216743 53216743 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 53216743 53216743 C T SNP HNRNPA1L2 ENST00000342657 human ensembl 74_37 +1 known missense c.116 p.T39M 0.976 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC ENSG00000139675 30 0 0 20 7 25.9259 PCDH17 0 genome.wustl.edu 37 13 58207949 58207949 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 58207949 58207949 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1269 p.T423 0.028 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 33 0 0 16 11 40.7407 PCDH17 0 genome.wustl.edu 37 13 58208794 58208794 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 58208794 58208794 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2114 p.S705L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 101 0 0 46 14 23.3333 KLF5 0 genome.wustl.edu 37 13 73636260 73636260 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 73636260 73636260 A G SNP KLF5 ENST00000377687 human ensembl 74_37 +1 known missense c.523 p.T175A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 101 0 0 103 12 10.4348 TBC1D4 0 genome.wustl.edu 37 13 75873705 75873705 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 75873705 75873705 T A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.2917 p.T973S 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 38 0 0 27 16 37.2093 TBC1D4 0 genome.wustl.edu 37 13 75901921 75901921 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 75901921 75901921 A G SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known silent c.1773 p.S591 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 148 0 0 95 44 31.6547 SLITRK1 0 genome.wustl.edu 37 13 84454847 84454847 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 84454847 84454847 G A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known nonsense c.796 p.R266* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 63 0 0 54 5 8.47458 DNAJC3 0 genome.wustl.edu 37 13 96375615 96375615 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 96375615 96375615 A G SNP DNAJC3 ENST00000602402 human ensembl 74_37 +1 known missense c.313 p.T105A 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC3 HGNC ENSG00000102580 104 0 0 115 12 9.44882 RNF113B 0 genome.wustl.edu 37 13 98828582 98828582 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 98828582 98828582 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known silent c.909 p.P303 0.937 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 126 0 0 80 32 28.5714 DOCK9 0 genome.wustl.edu 37 13 99567684 99567684 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 99567684 99567684 C T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.794 p.S265N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 35 0 0 37 3 7.5 WARS 0 genome.wustl.edu 37 14 100801346 100801346 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 100801346 100801346 C T SNP WARS ENST00000355338 human ensembl 74_37 -1 known missense c.1282 p.G428S 0.998 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS HGNC ENSG00000140105 54 0 0 55 8 12.6984 SNORD113-2 0 genome.wustl.edu 37 14 101393683 101393683 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 101393683 101393683 C T SNP SNORD113-2 ENST00000391082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD113-2 HGNC ENSG00000212384 35 0 0 50 4 7.40741 SNORD114-16 0 genome.wustl.edu 37 14 101439979 101439979 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 101439979 101439979 G A SNP SNORD114-16 ENST00000363044 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors SNORD114-16 HGNC ENSG00000199914 91 0 0 71 8 10.1266 PPP2R5C 0 genome.wustl.edu 37 14 102359431 102359431 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 102359431 102359431 G A SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known missense c.877 p.V293I 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 76 0 0 46 4 8 WDR20 0 genome.wustl.edu 37 14 102676020 102676020 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 102676020 102676020 C A SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known missense c.1606 p.P536T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 89 0 0 91 7 7.14286 CEP170B 0 genome.wustl.edu 37 14 105350360 105350360 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 105350360 105350360 G A SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.1247 p.R416Q 0.983 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 12 0 0 18 5 21.7391 JAG2 0 genome.wustl.edu 37 14 105622217 105622217 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 105622217 105622217 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known silent c.585 p.R195 0.183 pfam_DSL,smart_DSL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 19 0 0 16 5 23.8095 RNASE9 0 genome.wustl.edu 37 14 21024951 21024951 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 21024951 21024951 T C SNP RNASE9 ENST00000338904 human ensembl 74_37 -1 known missense c.278 p.Y93C 0.014 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE9 HGNC ENSG00000188655 110 0 0 144 14 8.86076 RNASE11 0 genome.wustl.edu 37 14 21052427 21052427 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 21052427 21052427 A G SNP RNASE11 ENST00000398008 human ensembl 74_37 -1 known silent c.207 p.D69 0.002 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE11 HGNC ENSG00000173464 232 0 0 214 30 12.2951 RPGRIP1 0 genome.wustl.edu 37 14 21769187 21769187 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 21769187 21769187 C A SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.281 p.A94E 0.000 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 48 0 0 37 4 9.7561 RAB2B 0 genome.wustl.edu 37 14 21944741 21944741 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 21944741 21944741 G A SNP RAB2B ENST00000397762 human ensembl 74_37 -1 known missense c.64 p.L22F 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 RAB2B HGNC ENSG00000129472 130 0 0 81 35 30.1724 TOX4 0 genome.wustl.edu 37 14 21955822 21955822 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 21955822 21955822 C T SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.288 p.G96 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 85 0 0 63 11 14.8649 LRP10 0 genome.wustl.edu 37 14 23345962 23345962 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 23345962 23345962 G A SNP LRP10 ENST00000359591 human ensembl 74_37 +1 known missense c.1489 p.G497R 0.999 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP10 HGNC ENSG00000197324 93 0 0 81 9 10 CDH24 0 genome.wustl.edu 37 14 23522901 23522901 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 23522901 23522901 G A SNP CDH24 ENST00000267383 human ensembl 74_37 -1 known missense c.1030 p.L344F 0.985 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 30 0 0 32 4 11.1111 SLC22A17 0 genome.wustl.edu 37 14 23818480 23818480 + Splice_Site SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 23818480 23818480 C T SNP SLC22A17 ENST00000206544 human ensembl 74_37 -1 known splice_site c.526+1 e3+1 1.000 - - - no_errors SLC22A17 HGNC ENSG00000092096 69 0 0 56 20 26.3158 MYH6 0 genome.wustl.edu 37 14 23871975 23871975 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 23871975 23871975 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.933 p.Y311 0.833 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 77 0 0 43 15 25.8621 MYH7 0 genome.wustl.edu 37 14 23898464 23898464 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 23898464 23898464 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.1231 p.V411I 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,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 169 0 0 125 48 27.7457 LRRC16B 0 genome.wustl.edu 37 14 24523312 24523312 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 24523312 24523312 C T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.151 p.R51C 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 76 0 0 53 11 17.1875 LRRC16B 0 genome.wustl.edu 37 14 24532697 24532697 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 24532697 24532697 G T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.2934 p.R978S 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 71 0 0 73 7 8.75 LRRC16B 0 genome.wustl.edu 37 14 24537831 24537831 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 24537831 24537831 A G SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.3721 p.S1241G 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 91 0 0 82 10 10.8696 ADCY4 0 genome.wustl.edu 37 14 24791428 24791428 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 24791428 24791428 A G SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known silent c.2430 p.N810 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 59 0 0 70 10 12.5 FOXG1 0 genome.wustl.edu 37 14 29237305 29237305 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 29237305 29237305 C T SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.820 p.R274W 1.000 pfam_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 FOXG1 HGNC ENSG00000176165 39 0 0 23 12 34.2857 RALGAPA1 0 genome.wustl.edu 37 14 36147154 36147154 + Splice_Site SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 36147154 36147154 G A SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known splice_site c.3247+2 e22+2 1.000 - - - no_errors RALGAPA1 HGNC ENSG00000174373 61 0 0 54 20 27.027 BRMS1L 0 genome.wustl.edu 37 14 36302197 36302197 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 36302197 36302197 C T SNP BRMS1L ENST00000216807 human ensembl 74_37 +1 known nonsense c.247 p.R83* 1.000 pfam_Sds3 pfam_Sds3 - no_errors BRMS1L HGNC ENSG00000100916 43 0 0 43 7 14 DPPA3P2 0 genome.wustl.edu 37 14 36840675 36840675 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 36840675 36840675 C T SNP DPPA3P2 ENST00000557188 human ensembl 74_37 +1 known rna NULL NULL 0.036 - - - no_errors DPPA3P2 HGNC ENSG00000188831 27 0 0 22 8 26.6667 PAX9 0 genome.wustl.edu 37 14 37132240 37132240 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 37132240 37132240 T C SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.143 p.V48A 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 64 0 0 39 6 13.3333 LRFN5 0 genome.wustl.edu 37 14 42356964 42356964 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 42356964 42356964 A G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1136 p.H379R 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 67 0 0 77 9 10.4651 KLHL28 0 genome.wustl.edu 37 14 45414264 45414264 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 45414264 45414264 C G SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.868 p.G290R 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 135 0 0 108 7 6.08696 FANCM 0 genome.wustl.edu 37 14 45645243 45645243 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 45645243 45645243 C T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.3286 p.P1096S 0.000 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 51 0 0 49 5 9.25926 RPL10L 0 genome.wustl.edu 37 14 47120898 47120898 + Missense_Mutation SNP G G C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 47120898 47120898 G C SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.42 p.N14K 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 97 0 0 67 28 29.4737 MDGA2 0 genome.wustl.edu 37 14 47342767 47342767 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 47342767 47342767 C T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2621 p.R874Q 0.983 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 82 0 0 76 8 9.52381 TRIM9 0 genome.wustl.edu 37 14 51561493 51561493 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 51561493 51561493 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.165 p.S55 0.982 smart_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 31 0 0 16 4 20 GNG2 0 genome.wustl.edu 37 14 52417379 52417379 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 52417379 52417379 G T SNP GNG2 ENST00000557376 human ensembl 74_37 +1 putative missense c.100 p.D34Y 0.073 NULL pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG2 HGNC ENSG00000186469 47 0 0 41 14 25.4545 WDHD1 0 genome.wustl.edu 37 14 55429711 55429711 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 55429711 55429711 C T SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known silent c.2490 p.E830 0.929 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 15 0 0 15 4 21.0526 PSMA3 0 genome.wustl.edu 37 14 58734211 58734211 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 58734211 58734211 G A SNP PSMA3 ENST00000216455 human ensembl 74_37 +1 known missense c.563 p.R188H 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 52 0 0 62 11 15.0685 TOMM20L 0 genome.wustl.edu 37 14 58863027 58863027 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 58863027 58863027 G A SNP TOMM20L ENST00000360945 human ensembl 74_37 +1 known missense c.148 p.E50K 0.009 pfam_MAS20_rcpt-related,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related - no_errors TOMM20L HGNC ENSG00000196860 47 0 0 39 4 9.30233 WDR89 0 genome.wustl.edu 37 14 64066595 64066595 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 64066595 64066595 C T SNP WDR89 ENST00000267522 human ensembl 74_37 -1 known silent c.66 p.E22 1.000 smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR89 HGNC ENSG00000140006 93 0 0 66 14 17.5 SYNE2 0 genome.wustl.edu 37 14 64408821 64408821 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 64408821 64408821 T G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.368 p.I123S 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 64 0 0 62 7 10.1449 HSPA2 0 genome.wustl.edu 37 14 65008911 65008911 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 65008911 65008911 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known silent c.1344 p.G448 0.999 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 99 0 0 102 7 6.42202 TMEM229B 0 genome.wustl.edu 37 14 67940262 67940262 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 67940262 67940262 C T SNP TMEM229B ENST00000357461 human ensembl 74_37 -1 known missense c.379 p.G127R 1.000 pfam_DUF1113_TMEM229 pfam_DUF1113_TMEM229 - no_errors TMEM229B HGNC ENSG00000198133 22 0 0 21 2 8.69565 SIPA1L1 0 genome.wustl.edu 37 14 72152299 72152299 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 72152299 72152299 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.3325 p.A1109T 0.993 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 59 0 0 63 6 8.69565 DCAF4 0 genome.wustl.edu 37 14 73409783 73409783 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 73409783 73409783 C T SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known silent c.513 p.S171 0.133 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 93 0 0 58 15 20.5479 DLST 0 genome.wustl.edu 37 14 75361105 75361105 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 75361105 75361105 G A SNP DLST ENST00000334220 human ensembl 74_37 +1 known missense c.763 p.D255N 1.000 pfam_2-oxoacid_DH_actylTfrase,tigrfam_SucB pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB - no_errors DLST HGNC ENSG00000119689 160 0 0 134 12 8.21918 ISM2 0 genome.wustl.edu 37 14 77942332 77942332 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 77942332 77942332 G T SNP ISM2 ENST00000342219 human ensembl 74_37 -1 known missense c.1322 p.P441H 0.015 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 44 0 0 54 5 8.47458 NRXN3 0 genome.wustl.edu 37 14 80328033 80328033 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 80328033 80328033 G A SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known missense c.2912 p.R971Q 1.000 NULL 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 NRXN3 HGNC ENSG00000021645 52 0 0 39 14 26.4151 PTPN21 0 genome.wustl.edu 37 14 88946663 88946663 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 88946663 88946663 T C SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1112 p.Y371C 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 75 0 0 72 6 7.69231 FOXN3 0 genome.wustl.edu 37 14 89878421 89878421 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 89878421 89878421 G A SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known missense c.400 p.R134C 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 FOXN3 HGNC ENSG00000053254 135 0 0 109 15 12.0968 CCDC88C 0 genome.wustl.edu 37 14 91770121 91770121 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 91770121 91770121 C T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.3559 p.A1187T 0.998 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 23 0 0 14 2 12.5 SMEK1 0 genome.wustl.edu 37 14 91925133 91925133 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 91925133 91925133 T C SNP SMEK1 ENST00000554943 human ensembl 74_37 -1 known silent c.2472 p.P824 0.977 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 55 0 0 71 10 12.3457 UNC79 0 genome.wustl.edu 37 14 94103591 94103591 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 94103591 94103591 A G SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.5929 p.N1977D 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 78 0 0 59 6 9.23077 DICER1 0 genome.wustl.edu 37 14 95562378 95562378 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 95562378 95562378 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.4879 p.A1627T 0.064 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 293 0 0 278 34 10.8974 CLMN 0 genome.wustl.edu 37 14 95679626 95679626 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 95679626 95679626 C T SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.538 p.A180T 0.211 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 93 0 0 86 9 9.47368 SETD3 0 genome.wustl.edu 37 14 99872896 99872896 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 99872896 99872896 C T SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known missense c.881 p.R294H 1.000 pfam_SET_dom pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 102 0 0 52 24 31.5789 PCSK6 0 genome.wustl.edu 37 15 101971538 101971538 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 101971538 101971538 A G SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known missense c.641 p.L214P 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 36 0 0 47 5 9.61538 CYFIP1 0 genome.wustl.edu 37 15 22928165 22928165 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 22928165 22928165 A G SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.244 p.M82V 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 219 0 0 127 46 26.5896 MAGEL2 0 genome.wustl.edu 37 15 23889660 23889660 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 23889660 23889660 A G SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1421 p.L474S 0.161 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 34 0 0 24 10 29.4118 NDN 0 genome.wustl.edu 37 15 23932112 23932112 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 23932112 23932112 C T SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.253 p.A85T 0.005 NULL pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 13 0 0 9 7 43.75 SNORD115-23 0 genome.wustl.edu 37 15 25456987 25456987 + RNA SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 25456987 25456987 A G SNP SNORD115-23 ENST00000364461 human ensembl 74_37 +1 known rna NULL NULL 0.936 - - - no_errors SNORD115-23 HGNC ENSG00000201331 323 0 0 286 28 8.9172 ATP10A 0 genome.wustl.edu 37 15 25971230 25971230 + Splice_Site SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 25971230 25971230 C A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known splice_site c.848-1 e5-1 1.000 - - - no_errors ATP10A HGNC ENSG00000206190 75 0 0 55 4 6.77966 GABRA5 0 genome.wustl.edu 37 15 27160004 27160004 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 27160004 27160004 G A SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known silent c.552 p.A184 0.600 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 60 0 0 50 3 5.66038 HERC2 0 genome.wustl.edu 37 15 28514464 28514464 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 28514464 28514464 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.1376 p.A459V 1.000 superfamily_RCC1/BLIP-II 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 40 0 0 37 10 21.2766 TRPM1 0 genome.wustl.edu 37 15 31332410 31332410 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 31332410 31332410 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.2278 p.R760W 0.991 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 124 0 0 77 26 25.2427 RYR3 0 genome.wustl.edu 37 15 34123231 34123231 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 34123231 34123231 A T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.11402 p.N3801I 1.000 pfam_RIH_assoc-dom,superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 37 0 0 38 12 24 AVEN 0 genome.wustl.edu 37 15 34168182 34168182 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 34168182 34168182 G A SNP AVEN ENST00000306730 human ensembl 74_37 -1 known nonsense c.460 p.Q154* 1.000 NULL NULL - no_errors AVEN HGNC ENSG00000169857 37 0 0 36 16 30.7692 AVEN 0 genome.wustl.edu 37 15 34295366 34295366 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 34295366 34295366 A G SNP AVEN ENST00000306730 human ensembl 74_37 -1 known silent c.312 p.D104 0.240 NULL NULL - no_errors AVEN HGNC ENSG00000169857 35 0 0 23 12 34.2857 ZNF770 0 genome.wustl.edu 37 15 35273567 35273567 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 35273567 35273567 A G SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.2069 p.V690A 0.010 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 18 0 0 19 4 17.3913 MEIS2 0 genome.wustl.edu 37 15 37388529 37388529 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 37388529 37388529 G A SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known silent c.348 p.S116 0.789 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 25 0 0 24 5 17.2414 MEIS2 0 genome.wustl.edu 37 15 37390178 37390178 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 37390178 37390178 C T SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known missense c.235 p.A79T 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 75 0 0 41 9 18 THBS1 0 genome.wustl.edu 37 15 39881276 39881276 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 39881276 39881276 G T SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.1762 p.D588Y 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 98 0 0 73 30 29.1262 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42126983 42126983 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 42126983 42126983 C G SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.110 p.T37S 0.001 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 183 0 0 133 13 8.90411 CDAN1 0 genome.wustl.edu 37 15 43020419 43020419 + Nonsense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 43020419 43020419 C A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known nonsense c.2851 p.E951* 0.998 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 139 0 0 97 11 10.1852 TGM7 0 genome.wustl.edu 37 15 43585733 43585733 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 43585733 43585733 C T SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.107 p.R36H 1.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 107 0 0 50 61 54.955 B2M 0 genome.wustl.edu 37 15 45003812 45003812 + Splice_Site SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 45003812 45003812 G A SNP B2M ENST00000544417 human ensembl 74_37 +1 known splice_site c.67+1 e1+1 0.996 - - - no_errors B2M HGNC ENSG00000166710 86 0 0 36 65 64.3564 DUOX2 0 genome.wustl.edu 37 15 45392026 45392026 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 45392026 45392026 T C SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known silent c.3249 p.S1083 0.005 NULL 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 69 0 0 62 9 12.6761 DMXL2 0 genome.wustl.edu 37 15 51773773 51773773 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 51773773 51773773 G T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.5530 p.L1844I 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 40 0 0 24 28 53.8462 FAM214A 0 genome.wustl.edu 37 15 52897418 52897418 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 52897418 52897418 A G SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known missense c.2372 p.V791A 0.926 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 123 0 0 136 15 9.93377 WDR72 0 genome.wustl.edu 37 15 53994441 53994441 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 53994441 53994441 G T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.1459 p.L487M 0.776 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 118 0 0 139 12 7.94702 ZNF280D 0 genome.wustl.edu 37 15 56959098 56959098 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 56959098 56959098 G T SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known silent c.1632 p.L544 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 25 0 0 35 3 7.89474 HERC1 0 genome.wustl.edu 37 15 63953190 63953190 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 63953190 63953190 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known nonsense c.9205 p.Q3069* 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 74 0 0 68 4 5.55556 RBPMS2 0 genome.wustl.edu 37 15 65040633 65040633 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 65040633 65040633 G A SNP RBPMS2 ENST00000300069 human ensembl 74_37 -1 known silent c.552 p.A184 0.483 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS2 HGNC ENSG00000166831 71 0 0 62 7 10.1449 SKOR1 0 genome.wustl.edu 37 15 68118326 68118326 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 68118326 68118326 A G SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.160 p.S54G 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 46 0 0 45 5 10 ITGA11 0 genome.wustl.edu 37 15 68619011 68619011 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 68619011 68619011 C T SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.2192 p.R731Q 0.912 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 ITGA11 HGNC ENSG00000137809 11 0 0 3 2 40 UACA 0 genome.wustl.edu 37 15 70960242 70960242 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 70960242 70960242 C T SNP UACA ENST00000322954 human ensembl 74_37 -1 known silent c.2781 p.E927 0.952 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 66 0 0 62 10 13.8889 PKM 0 genome.wustl.edu 37 15 72502688 72502688 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 72502688 72502688 G A SNP PKM ENST00000319622 human ensembl 74_37 -1 known silent c.378 p.G126 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 198 1 0.502513 227 14 5.80913 ISLR2 0 genome.wustl.edu 37 15 74425583 74425583 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 74425583 74425583 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known missense c.488 p.A163V 0.090 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 58 0 0 68 5 6.84932 LMAN1L 0 genome.wustl.edu 37 15 75117889 75117889 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 75117889 75117889 C A SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known silent c.1524 p.T508 0.000 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 155 0 0 54 88 61.9718 PTPN9 0 genome.wustl.edu 37 15 75763086 75763086 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 75763086 75763086 T C SNP PTPN9 ENST00000306726 human ensembl 74_37 -1 known missense c.1294 p.T432A 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_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 129 0 0 108 12 10 SNUPN 0 genome.wustl.edu 37 15 75890977 75890977 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 75890977 75890977 C T SNP SNUPN ENST00000371091 human ensembl 74_37 -1 known missense c.931 p.G311R 1.000 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 217 1 0.458716 204 14 6.42202 MORF4L1 0 genome.wustl.edu 37 15 79170560 79170560 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 79170560 79170560 C T SNP MORF4L1 ENST00000331268 human ensembl 74_37 +1 known nonsense c.46 p.R16* 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC ENSG00000185787 35 0 0 17 38 69.0909 WHAMM 0 genome.wustl.edu 37 15 83481903 83481903 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 83481903 83481903 G A SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known missense c.658 p.V220I 0.875 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 29 0 0 7 11 61.1111 PDE8A 0 genome.wustl.edu 37 15 85634368 85634368 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 85634368 85634368 G A SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.808 p.A270T 1.000 pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 27 0 0 33 9 21.4286 AGBL1 0 genome.wustl.edu 37 15 86813174 86813174 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 86813174 86813174 C T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.1725 p.N575 0.817 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 37 0 0 34 7 17.0732 GABARAPL3 0 genome.wustl.edu 37 15 90892168 90892168 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 90892168 90892168 T C SNP GABARAPL3 ENST00000412799 human ensembl 74_37 -1 known missense c.262 p.S88G 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors GABARAPL3 HGNC ENSG00000238244 34 0 0 34 3 8.10811 SV2B 0 genome.wustl.edu 37 15 91835608 91835608 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 91835608 91835608 C A SNP SV2B ENST00000330276 human ensembl 74_37 +1 known silent c.1878 p.A626 0.996 pfam_MFS,pfam_Sub_transporter,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 SV2B HGNC ENSG00000185518 81 0 0 25 56 69.1358 CIITA 0 genome.wustl.edu 37 16 11000842 11000842 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 11000842 11000842 T C SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.1493 p.L498P 1.000 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 114 0 0 124 8 6.06061 CIITA 0 genome.wustl.edu 37 16 11000938 11000938 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 11000938 11000938 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.1589 p.A530V 0.953 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 19 0 0 33 4 10.8108 CIITA 0 genome.wustl.edu 37 16 11016335 11016335 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 11016335 11016335 T C SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.3305 p.V1102A 0.737 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 45 0 0 33 4 10.8108 CLEC16A 0 genome.wustl.edu 37 16 11118742 11118742 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 11118742 11118742 G A SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.1501 p.V501M 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 19 0 0 12 3 20 TXNDC11 0 genome.wustl.edu 37 16 11773600 11773600 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 11773600 11773600 G A SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known silent c.2409 p.S803 0.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 70 0 0 62 20 24.3902 ZC3H7A 0 genome.wustl.edu 37 16 11873209 11873209 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 11873209 11873209 C T SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known missense c.119 p.R40H 0.001 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 26 0 0 35 9 20.4545 MKL2 0 genome.wustl.edu 37 16 14334332 14334332 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 14334332 14334332 C T SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.1037 p.A346V 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 176 0 0 139 12 7.94702 BFAR 0 genome.wustl.edu 37 16 14742310 14742310 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 14742310 14742310 A G SNP BFAR ENST00000261658 human ensembl 74_37 +1 known missense c.329 p.N110S 0.104 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 146 0 0 133 23 14.7436 NTAN1 0 genome.wustl.edu 37 16 15133905 15133905 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 15133905 15133905 G A SNP NTAN1 ENST00000287706 human ensembl 74_37 -1 known missense c.560 p.A187V 0.933 NULL NULL - no_errors NTAN1 HGNC ENSG00000157045 143 0 0 141 9 6 NPIPP1 0 genome.wustl.edu 37 16 15198488 15198488 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 15198488 15198488 G A SNP NPIPP1 ENST00000534799 human ensembl 74_37 -1 known rna NULL NULL 0.031 - - - no_errors NPIPP1 HGNC ENSG00000188599 93 0 0 62 23 27.0588 ABCC1 0 genome.wustl.edu 37 16 16108453 16108453 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 16108453 16108453 C A SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.457 p.L153M 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 108 0 0 77 25 24.5098 IFT140 0 genome.wustl.edu 37 16 1652450 1652450 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 1652450 1652450 G A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.290 p.T97M 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 56 0 0 47 18 27.6923 MAPK8IP3 0 genome.wustl.edu 37 16 1818284 1818284 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 1818284 1818284 C T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.3644 p.A1215V 0.412 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 170 0 0 126 41 24.5509 ARL6IP1 0 genome.wustl.edu 37 16 18806789 18806789 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 18806789 18806789 C T SNP ARL6IP1 ENST00000304414 human ensembl 74_37 -1 known silent c.405 p.K135 1.000 pfam_Reticulon pfam_Reticulon - no_errors ARL6IP1 HGNC ENSG00000170540 56 0 0 51 6 10.5263 TMC5 0 genome.wustl.edu 37 16 19483534 19483534 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 19483534 19483534 C T SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.1907 p.A636V 0.457 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 80 0 0 49 23 31.9444 IQCK 0 genome.wustl.edu 37 16 19745102 19745102 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 19745102 19745102 G A SNP IQCK ENST00000320394 human ensembl 74_37 +1 known missense c.329 p.R110H 0.000 NULL NULL - no_errors IQCK HGNC ENSG00000174628 126 1 0.787402 72 31 30.0971 ZNF598 0 genome.wustl.edu 37 16 2052681 2052681 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 2052681 2052681 C A SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.518 p.R173L 1.000 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 14 0 0 17 3 15 USP31 0 genome.wustl.edu 37 16 23080573 23080573 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 23080573 23080573 G A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known silent c.2853 p.D951 0.032 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 145 0 0 114 36 24 USP31 0 genome.wustl.edu 37 16 23080800 23080800 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 23080800 23080800 G A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.2626 p.R876C 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 43 0 0 48 5 9.43396 LUC7L 0 genome.wustl.edu 37 16 258086 258086 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 258086 258086 A G SNP LUC7L ENST00000293872 human ensembl 74_37 -1 known silent c.357 p.V119 1.000 pfam_Luc7-rel pfam_Luc7-rel - no_errors LUC7L HGNC ENSG00000007392 58 0 0 69 5 6.75676 GTF3C1 0 genome.wustl.edu 37 16 27481581 27481581 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 27481581 27481581 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.4662 p.N1554 0.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 103 0 0 73 31 29.8077 GSG1L 0 genome.wustl.edu 37 16 27895882 27895882 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 27895882 27895882 C T SNP GSG1L ENST00000447459 human ensembl 74_37 -1 known missense c.475 p.E159K 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 36 0 0 23 5 17.8571 SRRM2 0 genome.wustl.edu 37 16 2812472 2812472 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 127 0 0 106 15 12.3967 SRRM2 0 genome.wustl.edu 37 16 2813634 2813634 + Silent SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 2813634 2813634 C G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.3105 p.L1035 0.001 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 102 0 0 94 11 10.4762 SPN 0 genome.wustl.edu 37 16 29675600 29675600 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 29675600 29675600 G A SNP SPN ENST00000360121 human ensembl 74_37 +1 known missense c.551 p.G184E 0.006 NULL NULL - no_errors SPN HGNC ENSG00000197471 185 0 0 156 20 11.3636 TAOK2 0 genome.wustl.edu 37 16 29996880 29996880 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 29996880 29996880 G A SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.1769 p.R590H 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 TAOK2 HGNC ENSG00000149930 34 0 0 35 15 30 ITGAL 0 genome.wustl.edu 37 16 30532882 30532882 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 30532882 30532882 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.3409 p.A1137T 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 79 0 0 60 21 25.9259 ZNF689 0 genome.wustl.edu 37 16 30621257 30621257 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 30621257 30621257 C T SNP ZNF689 ENST00000287461 human ensembl 74_37 -1 known missense c.106 p.V36M 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF689 HGNC ENSG00000156853 20 0 0 21 2 8.69565 CLDN6 0 genome.wustl.edu 37 16 3065718 3065718 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 3065718 3065718 G A SNP CLDN6 ENST00000328796 human ensembl 74_37 -1 known missense c.305 p.A102V 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 50 0 0 34 5 12.8205 ARMC5 0 genome.wustl.edu 37 16 31473646 31473646 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 31473646 31473646 C T SNP ARMC5 ENST00000408912 human ensembl 74_37 +1 known missense c.1063 p.R355C 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 49 0 0 29 11 27.5 ARMC5 0 genome.wustl.edu 37 16 31477726 31477726 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 31477726 31477726 G A SNP ARMC5 ENST00000408912 human ensembl 74_37 +1 known missense c.2609 p.R870Q 1.000 superfamily_BTB/POZ_fold,pfscan_BTB/POZ-like superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 26 0 0 14 4 22.2222 BMS1P8 0 genome.wustl.edu 37 16 33490494 33490494 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 33490494 33490494 C T SNP BMS1P8 ENST00000567036 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BMS1P8 HGNC ENSG00000260518 16 0 0 13 3 18.75 ZNF597 0 genome.wustl.edu 37 16 3487176 3487176 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 3487176 3487176 G A SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known nonsense c.523 p.Q175* 0.880 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 - no_errors ZNF597 HGNC ENSG00000167981 172 0 0 122 44 26.506 SLX4 0 genome.wustl.edu 37 16 3639789 3639789 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 3639789 3639789 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.3850 p.V1284M 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 84 0 0 76 5 6.17284 DNASE1 0 genome.wustl.edu 37 16 3705926 3705926 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 3705926 3705926 A G SNP DNASE1 ENST00000246949 human ensembl 74_37 +1 known missense c.224 p.D75G 0.947 pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I - no_errors DNASE1 HGNC ENSG00000213918 85 0 0 74 8 9.7561 ADCY9 0 genome.wustl.edu 37 16 4164856 4164856 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 4164856 4164856 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.588 p.T196 0.656 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 63 0 0 55 4 6.77966 ANKRD26P1 0 genome.wustl.edu 37 16 46597934 46597934 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 46597934 46597934 C T SNP ANKRD26P1 ENST00000566201 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 20 0 0 11 3 21.4286 ABCC12 0 genome.wustl.edu 37 16 48139203 48139203 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 48139203 48139203 G A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known silent c.2520 p.G840 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 23 0 0 15 9 37.5 GLYR1 0 genome.wustl.edu 37 16 4871450 4871450 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 4871450 4871450 G T SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.737 p.T246N 0.985 NULL pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 37 0 0 41 3 6.81818 HEATR3 0 genome.wustl.edu 37 16 50106523 50106523 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 50106523 50106523 A C SNP HEATR3 ENST00000299192 human ensembl 74_37 +1 known missense c.520 p.S174R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 76 0 0 51 24 32 NAGPA 0 genome.wustl.edu 37 16 5083687 5083687 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 5083687 5083687 C T SNP NAGPA ENST00000312251 human ensembl 74_37 -1 known silent c.129 p.A43 0.007 NULL pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 22 0 0 15 5 25 ALG1 0 genome.wustl.edu 37 16 5130946 5130946 + Splice_Site SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 5130946 5130946 G A SNP ALG1 ENST00000262374 human ensembl 74_37 +1 known splice_site c.962-1 e10-1 1.000 - - - no_errors ALG1 HGNC ENSG00000033011 112 0 0 62 21 25.3012 RBL2 0 genome.wustl.edu 37 16 53524153 53524153 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 53524153 53524153 A C SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known missense c.3361 p.N1121H 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 90 0 0 96 12 11.1111 IRX6 0 genome.wustl.edu 37 16 55363085 55363085 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 55363085 55363085 G A SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1195 p.A399T 0.002 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 75 0 0 55 23 29.4872 IRX6 0 genome.wustl.edu 37 16 55363166 55363166 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 55363166 55363166 C T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1276 p.P426S 0.691 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 94 0 0 79 6 7.05882 HERPUD1 0 genome.wustl.edu 37 16 56966259 56966259 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 56966259 56966259 G A SNP HERPUD1 ENST00000439977 human ensembl 74_37 +1 known missense c.103 p.G35S 0.982 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD1 HGNC ENSG00000051108 14 0 0 13 3 18.75 NLRC5 0 genome.wustl.edu 37 16 57095558 57095558 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 57095558 57095558 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known nonsense c.4099 p.Q1367* 0.837 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 107 0 0 72 23 24.2105 CX3CL1 0 genome.wustl.edu 37 16 57416243 57416243 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 57416243 57416243 T C SNP CX3CL1 ENST00000006053 human ensembl 74_37 +1 known missense c.493 p.S165P 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 33 0 0 17 11 39.2857 GPR56 0 genome.wustl.edu 37 16 57689903 57689903 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 57689903 57689903 C T SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.1016 p.P339L 1.000 prints_GPCR_2_orphan_rcpt_GPR56 pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 136 0 0 109 9 7.62712 MMP15 0 genome.wustl.edu 37 16 58079177 58079177 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 58079177 58079177 G A SNP MMP15 ENST00000219271 human ensembl 74_37 +1 known missense c.1837 p.V613M 1.000 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP15 HGNC ENSG00000102996 29 0 0 23 2 8 CNOT1 0 genome.wustl.edu 37 16 58617056 58617056 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 58617056 58617056 C T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.837 p.Q279 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 94 0 0 85 8 8.60215 CDH11 0 genome.wustl.edu 37 16 64981896 64981896 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 64981896 64981896 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known silent c.2001 p.G667 0.899 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 94 0 0 97 9 8.49057 CDH11 0 genome.wustl.edu 37 16 65038607 65038607 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 65038607 65038607 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.166 p.V56I 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 60 0 0 65 6 8.4507 FHOD1 0 genome.wustl.edu 37 16 67265542 67265542 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 67265542 67265542 G A SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known missense c.2383 p.R795W 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 67 0 0 50 23 31.5068 PLEKHG4 0 genome.wustl.edu 37 16 67316181 67316181 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 67316181 67316181 A G SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known silent c.1182 p.Q394 0.090 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 32 0 0 41 3 6.81818 CTCF 0 genome.wustl.edu 37 16 67660619 67660619 + Splice_Site SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 67660619 67660619 G A SNP CTCF ENST00000264010 human ensembl 74_37 +1 known splice_site c.1518+1 e6+1 1.000 - - - no_errors CTCF HGNC ENSG00000102974 59 0 0 47 9 16.0714 RLTPR 0 genome.wustl.edu 37 16 67683857 67683857 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 67683857 67683857 C T SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.2068 p.R690C 0.754 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 26 0 0 17 10 37.037 LCAT 0 genome.wustl.edu 37 16 67976779 67976779 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 67976779 67976779 T C SNP LCAT ENST00000264005 human ensembl 74_37 -1 known missense c.412 p.S138G 0.040 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 97 0 0 75 23 23.4694 NOB1 0 genome.wustl.edu 37 16 69776336 69776336 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 69776336 69776336 T C SNP NOB1 ENST00000268802 human ensembl 74_37 -1 known missense c.1138 p.S380G 1.000 pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC ENSG00000141101 89 0 0 45 16 26.2295 HYDIN 0 genome.wustl.edu 37 16 70841851 70841851 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 70841851 70841851 T C SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.14998 p.K5000E 0.340 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 94 0 0 90 12 11.7647 HYDIN 0 genome.wustl.edu 37 16 70852299 70852299 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 70852299 70852299 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.14604 p.C4868 0.997 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 21 0 0 14 9 39.1304 ZFHX3 0 genome.wustl.edu 37 16 72821576 72821576 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 72821576 72821576 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.10599 p.A3533 1.000 smart_Znf_U1,smart_Znf_C2H2-like 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 113 0 0 123 19 13.3803 ZFHX3 0 genome.wustl.edu 37 16 72991508 72991508 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 72991508 72991508 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.2537 p.R846H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 108 0 0 82 10 10.8696 GLG1 0 genome.wustl.edu 37 16 74526897 74526897 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 74526897 74526897 G A SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.1192 p.L398F 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 37 0 0 39 9 18.75 ADAMTS18 0 genome.wustl.edu 37 16 77334209 77334209 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 77334209 77334209 G T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known silent c.2625 p.A875 0.001 superfamily_Thrombospondin_1_rpt 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 66 0 0 53 22 29.3333 CMIP 0 genome.wustl.edu 37 16 81711996 81711996 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 81711996 81711996 A T SNP CMIP ENST00000537098 human ensembl 74_37 +1 known missense c.1151 p.E384V 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 11 0 0 17 2 10.5263 CMIP 0 genome.wustl.edu 37 16 81733366 81733366 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 81733366 81733366 G A SNP CMIP ENST00000537098 human ensembl 74_37 +1 known missense c.1715 p.C572Y 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 21 0 0 20 2 9.09091 TLDC1 0 genome.wustl.edu 37 16 84516207 84516207 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 84516207 84516207 C T SNP TLDC1 ENST00000343629 human ensembl 74_37 -1 known silent c.1068 p.P356 0.000 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors TLDC1 HGNC ENSG00000140950 119 0 0 63 26 29.2135 GSE1 0 genome.wustl.edu 37 16 85690909 85690909 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 85690909 85690909 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.1339 p.A447T 0.982 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 101 1 0.980392 75 5 6.25 GSE1 0 genome.wustl.edu 37 16 85698686 85698686 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 85698686 85698686 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.2710 p.D904N 0.908 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 72 0 0 56 3 5.08475 TMEM186 0 genome.wustl.edu 37 16 8889867 8889867 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 8889867 8889867 C T SNP TMEM186 ENST00000333050 human ensembl 74_37 -1 known missense c.584 p.R195H 0.000 NULL NULL - no_errors TMEM186 HGNC ENSG00000184857 120 0 0 104 36 25.7143 TMEM186 0 genome.wustl.edu 37 16 8890042 8890042 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 8890042 8890042 C T SNP TMEM186 ENST00000333050 human ensembl 74_37 -1 known missense c.409 p.G137S 0.980 NULL NULL - no_errors TMEM186 HGNC ENSG00000184857 90 0 0 89 6 6.31579 CPNE7 0 genome.wustl.edu 37 16 89661935 89661935 + Missense_Mutation SNP G G C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 89661935 89661935 G C SNP CPNE7 ENST00000268720 human ensembl 74_37 +1 known missense c.1688 p.G563A 1.000 smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE7 HGNC ENSG00000178773 31 0 0 30 10 25 SPATA2L 0 genome.wustl.edu 37 16 89764300 89764300 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 89764300 89764300 G A SNP SPATA2L ENST00000289805 human ensembl 74_37 -1 known silent c.717 p.D239 0.005 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 30 0 0 19 5 20.8333 MC1R 0 genome.wustl.edu 37 16 89986444 89986444 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 89986444 89986444 C T SNP MC1R ENST00000555147 human ensembl 74_37 +1 known missense c.778 p.H260Y 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_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 94 0 0 82 8 8.88889 MYH13 0 genome.wustl.edu 37 17 10265498 10265498 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 10265498 10265498 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.442 p.R148C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 189 0 0 146 12 7.59494 TEKT3 0 genome.wustl.edu 37 17 15215749 15215749 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 15215749 15215749 G A SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known missense c.928 p.R310C 0.999 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 53 0 0 67 5 6.94444 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 49 0 0 60 29 32.5843 TRIM16 0 genome.wustl.edu 37 17 15532509 15532509 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 15532509 15532509 G A SNP TRIM16 ENST00000336708 human ensembl 74_37 -1 known missense c.1115 p.A372V 0.834 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin 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 TRIM16 HGNC ENSG00000221926 70 0 0 41 4 8.88889 TBC1D26 0 genome.wustl.edu 37 17 15644464 15644464 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 15644464 15644464 G A SNP TBC1D26 ENST00000437605 human ensembl 74_37 +1 known missense c.575 p.R192H 0.569 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 TBC1D26 HGNC ENSG00000214946 76 0 0 59 15 20.2703 NCOR1 0 genome.wustl.edu 37 17 15961030 15961030 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 15961030 15961030 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.6190 p.A2064T 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 67 0 0 60 22 26.8293 RAI1 0 genome.wustl.edu 37 17 17698552 17698552 + Nonsense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 17698552 17698552 G T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known nonsense c.2290 p.E764* 0.907 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 66 0 0 65 16 19.7531 FLII 0 genome.wustl.edu 37 17 18148464 18148464 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 18148464 18148464 C A SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.3798 p.K1266N 0.128 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 106 0 0 107 10 8.54701 PRPSAP2 0 genome.wustl.edu 37 17 18833976 18833976 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 18833976 18833976 T C SNP PRPSAP2 ENST00000268835 human ensembl 74_37 +1 known missense c.1075 p.S359P 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP2 HGNC ENSG00000141127 49 0 0 35 6 14.6341 SGSM2 0 genome.wustl.edu 37 17 2276761 2276761 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 2276761 2276761 G A SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.2054 p.S685N 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom 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 SGSM2 HGNC ENSG00000141258 96 0 0 62 4 6.06061 NOS2 0 genome.wustl.edu 37 17 26105782 26105782 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 26105782 26105782 C T SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.1215 p.K405 0.994 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,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 107 0 0 81 32 28.3186 SPAG5 0 genome.wustl.edu 37 17 26911493 26911493 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 26911493 26911493 G A SNP SPAG5 ENST00000321765 human ensembl 74_37 -1 known missense c.2167 p.R723W 0.796 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 149 0 0 148 10 6.32911 SGK494 0 genome.wustl.edu 37 17 26940691 26940691 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 26940691 26940691 G A SNP SGK494 ENST00000301037 human ensembl 74_37 -1 known missense c.91 p.R31W 0.999 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 SGK494 Clone_based_vega_gene ENSG00000167524 47 0 0 41 10 19.6078 MYO18A 0 genome.wustl.edu 37 17 27424848 27424848 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 27424848 27424848 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.4060 p.R1354W 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 160 0 0 112 40 26.3158 MYO18A 0 genome.wustl.edu 37 17 27438750 27438750 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 27438750 27438750 A G SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known silent c.2730 p.G910 0.972 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 45 0 0 32 5 13.5135 SSH2 0 genome.wustl.edu 37 17 27963595 27963595 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 27963595 27963595 T C SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known silent c.1572 p.K524 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 59 31 34.4444 SLC6A4 0 genome.wustl.edu 37 17 28545192 28545192 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 28545192 28545192 G A SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known silent c.642 p.S214 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 72 0 0 45 17 27.4194 CPD 0 genome.wustl.edu 37 17 28791624 28791624 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 28791624 28791624 T C SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.3935 p.L1312S 0.998 superfamily_CarboxyPept-like_regulatory pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 153 0 0 166 20 10.7527 OR1D5 0 genome.wustl.edu 37 17 2966259 2966259 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 2966259 2966259 T C SNP OR1D5 ENST00000575751 human ensembl 74_37 -1 known missense c.643 p.T215A 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D5 HGNC ENSG00000262628 54 0 0 33 3 8.33333 RAB11FIP4 0 genome.wustl.edu 37 17 29848367 29848367 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 29848367 29848367 G A SNP RAB11FIP4 ENST00000325874 human ensembl 74_37 +1 known silent c.747 p.S249 0.001 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP4 HGNC ENSG00000131242 22 0 0 27 10 27.027 AP2B1 0 genome.wustl.edu 37 17 33954489 33954489 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 33954489 33954489 A G SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known missense c.1024 p.M342V 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 53 0 0 47 21 30.8824 MMP28 0 genome.wustl.edu 37 17 34106043 34106043 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 34106043 34106043 G T SNP MMP28 ENST00000587639 human ensembl 74_37 -1 known silent c.228 p.G76 0.999 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like - no_errors MMP28 HGNC ENSG00000129270 34 0 0 20 7 25.9259 ACACA 0 genome.wustl.edu 37 17 35580491 35580491 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 35580491 35580491 T A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.3506 p.D1169V 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 97 0 0 58 22 27.5 SRCIN1 0 genome.wustl.edu 37 17 36720452 36720452 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 36720452 36720452 G A SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.443 p.S148L 1.000 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 8 0 0 7 5 41.6667 GSDMA 0 genome.wustl.edu 37 17 38133118 38133118 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 38133118 38133118 T C SNP GSDMA ENST00000301659 human ensembl 74_37 +1 known missense c.1145 p.F382S 0.837 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMA HGNC ENSG00000167914 94 0 0 79 29 26.8519 CCR7 0 genome.wustl.edu 37 17 38711960 38711960 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 38711960 38711960 T C SNP CCR7 ENST00000246657 human ensembl 74_37 -1 known silent c.171 p.K57 0.981 prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1 - no_errors CCR7 HGNC ENSG00000126353 71 0 0 56 7 11.1111 SMARCE1 0 genome.wustl.edu 37 17 38792670 38792670 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 38792670 38792670 A C SNP SMARCE1 ENST00000348513 human ensembl 74_37 -1 known missense c.346 p.L116V 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SMARCE1 HGNC ENSG00000073584 193 0 0 192 24 11.1111 KRT28 0 genome.wustl.edu 37 17 38953225 38953225 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 38953225 38953225 G A SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known silent c.921 p.T307 0.002 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 83 0 0 65 25 27.7778 KRT23 0 genome.wustl.edu 37 17 39092710 39092710 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 39092710 39092710 G A SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.146 p.T49M 0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 55 0 0 40 13 24.5283 KRTAP1-1 0 genome.wustl.edu 37 17 39197586 39197586 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 39197586 39197586 A G SNP KRTAP1-1 ENST00000306271 human ensembl 74_37 -1 known missense c.64 p.S22P 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-1 HGNC ENSG00000188581 80 0 0 58 7 10.7692 KRT38 0 genome.wustl.edu 37 17 39595537 39595537 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 39595537 39595537 G A SNP KRT38 ENST00000246646 human ensembl 74_37 -1 known missense c.650 p.A217V 0.097 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 91 0 0 62 20 24.3902 KRT32 0 genome.wustl.edu 37 17 39622023 39622023 + Splice_Site SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 39622023 39622023 A G SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known splice_site c.708+2 e3+2 1.000 - - - no_errors KRT32 HGNC ENSG00000108759 69 0 0 73 5 6.41026 KRT9 0 genome.wustl.edu 37 17 39723536 39723536 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 39723536 39723536 A G SNP KRT9 ENST00000246662 human ensembl 74_37 -1 known missense c.1861 p.S621P 0.880 NULL pfam_IF,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 89 0 0 70 14 16.6667 CNP 0 genome.wustl.edu 37 17 40120397 40120397 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 40120397 40120397 G A SNP CNP ENST00000393892 human ensembl 74_37 +1 known silent c.315 p.E105 1.000 pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,superfamily_P-loop_NTPase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 21 0 0 32 4 11.1111 KCNH4 0 genome.wustl.edu 37 17 40312256 40312256 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 40312256 40312256 C T SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known silent c.2856 p.T952 0.001 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 96 0 0 71 6 7.79221 WNK4 0 genome.wustl.edu 37 17 40948272 40948272 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 40948272 40948272 G A SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.3563 p.R1188H 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 WNK4 HGNC ENSG00000126562 14 0 0 6 3 33.3333 DHX8 0 genome.wustl.edu 37 17 41585055 41585055 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 41585055 41585055 A G SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.2108 p.K703R 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_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 118 0 0 121 11 8.33333 MPP2 0 genome.wustl.edu 37 17 41960294 41960294 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 41960294 41960294 G A SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.502 p.R168C 1.000 superfamily_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 275 0 0 248 21 7.80669 ITGA2B 0 genome.wustl.edu 37 17 42461924 42461924 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 42461924 42461924 C T SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.829 p.G277R 0.985 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 127 1 0.78125 64 26 28.8889 ADAM11 0 genome.wustl.edu 37 17 42837183 42837183 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 42837183 42837183 G A SNP ADAM11 ENST00000200557 human ensembl 74_37 +1 known missense c.155 p.R52H 0.997 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,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM11 HGNC ENSG00000073670 33 0 0 15 12 44.4444 ADAM11 0 genome.wustl.edu 37 17 42855087 42855087 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 42855087 42855087 C T SNP ADAM11 ENST00000200557 human ensembl 74_37 +1 known silent c.1926 p.D642 0.995 pfam_ADAM_Cys-rich,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,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM11 HGNC ENSG00000073670 71 0 0 51 20 28.169 MAP3K14 0 genome.wustl.edu 37 17 43345039 43345039 + RNA SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 43345039 43345039 T C SNP MAP3K14 ENST00000344686 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MAP3K14 HGNC ENSG00000006062 137 0 0 110 11 9.09091 SPNS3 0 genome.wustl.edu 37 17 4348354 4348354 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 4348354 4348354 C T SNP SPNS3 ENST00000355530 human ensembl 74_37 +1 known missense c.293 p.A98V 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 231 0 0 153 71 31.6964 KPNB1 0 genome.wustl.edu 37 17 45727597 45727597 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 45727597 45727597 C T SNP KPNB1 ENST00000577918 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors KPNB1 HGNC ENSG00000108424 38 0 0 24 9 27.2727 SP2 0 genome.wustl.edu 37 17 45993853 45993853 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 45993853 45993853 A G SNP SP2 ENST00000376741 human ensembl 74_37 +1 known missense c.416 p.Q139R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 103 0 0 93 12 11.4286 SP2 0 genome.wustl.edu 37 17 46002400 46002400 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 46002400 46002400 C T SNP SP2 ENST00000376741 human ensembl 74_37 +1 known silent c.1488 p.P496 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 64 0 0 56 8 12.5 MIR10A 0 genome.wustl.edu 37 17 46657180 46657180 + RNA SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 46657180 46657180 T A SNP MIR10A ENST00000548801 human ensembl 74_37 -1 known rna NULL NULL 0.349 - - - no_errors MIR10A HGNC ENSG00000257178 18 0 0 20 6 23.0769 PSMB6 0 genome.wustl.edu 37 17 4701657 4701657 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 4701657 4701657 G A SNP PSMB6 ENST00000270586 human ensembl 74_37 +1 known silent c.660 p.R220 0.993 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC ENSG00000142507 235 0 0 195 12 5.7971 LRRC59 0 genome.wustl.edu 37 17 48472334 48472334 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 48472334 48472334 C T SNP LRRC59 ENST00000225972 human ensembl 74_37 -1 known missense c.121 p.A41T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC59 HGNC ENSG00000108829 64 0 0 43 6 12.2449 SPATA20 0 genome.wustl.edu 37 17 48632944 48632944 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 48632944 48632944 C T SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.2330 p.T777I 0.998 NULL pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 65 0 0 60 12 16.6667 CACNA1G 0 genome.wustl.edu 37 17 48692826 48692826 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 48692826 48692826 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.4864 p.G1622R 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 55 0 0 34 10 22.7273 CACNA1G 0 genome.wustl.edu 37 17 48703460 48703460 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 48703460 48703460 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.6482 p.P2161L 0.020 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 56 0 0 35 15 30 KIF1C 0 genome.wustl.edu 37 17 4910366 4910366 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 4910366 4910366 T C SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.1322 p.M441T 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 27 0 0 38 14 26.9231 KIF2B 0 genome.wustl.edu 37 17 51902173 51902173 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 51902173 51902173 A C SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1779 p.K593N 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 KIF2B HGNC ENSG00000141200 103 0 0 99 6 5.71429 STXBP4 0 genome.wustl.edu 37 17 53077036 53077036 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 53077036 53077036 G A SNP STXBP4 ENST00000376352 human ensembl 74_37 +1 known missense c.331 p.D111N 0.000 NULL pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom - no_errors STXBP4 HGNC ENSG00000166263 47 0 0 38 9 19.1489 BZRAP1 0 genome.wustl.edu 37 17 56389881 56389881 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 56389881 56389881 A G SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known silent c.2301 p.P767 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 115 0 0 87 20 18.6916 BZRAP1 0 genome.wustl.edu 37 17 56389972 56389972 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 56389972 56389972 C G SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.2210 p.S737T 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 86 0 0 83 9 9.78261 SUPT4H1 0 genome.wustl.edu 37 17 56424934 56424934 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 56424934 56424934 A G SNP SUPT4H1 ENST00000225504 human ensembl 74_37 -1 known missense c.188 p.M63T 1.000 pfam_Spt4/RpoE2_Znf,pirsf_Spt4 pfam_Spt4/RpoE2_Znf,pirsf_Spt4 - no_errors SUPT4H1 HGNC ENSG00000213246 76 0 0 54 6 10 TLK2 0 genome.wustl.edu 37 17 60657500 60657500 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 60657500 60657500 A G SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known missense c.1381 p.R461G 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK2 HGNC ENSG00000146872 58 0 0 53 3 5.35714 SMURF2 0 genome.wustl.edu 37 17 62551006 62551006 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 62551006 62551006 A G SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known silent c.1716 p.P572 0.995 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF2 HGNC ENSG00000108854 45 0 0 53 5 8.62069 CEP112 0 genome.wustl.edu 37 17 64049989 64049989 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 64049989 64049989 A G SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known silent c.1083 p.N361 0.338 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 80 0 0 76 6 7.31707 GEMIN4 0 genome.wustl.edu 37 17 650620 650620 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 650620 650620 G A SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known silent c.663 p.R221 0.000 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 97 0 0 72 30 29.4118 BPTF 0 genome.wustl.edu 37 17 65888143 65888143 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 65888143 65888143 G A SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.2426 p.G809D 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 39 0 0 27 14 34.1463 ABCA9 0 genome.wustl.edu 37 17 66982372 66982372 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 66982372 66982372 G A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known nonsense c.4141 p.Q1381* 1.000 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 128 0 0 87 38 30.4 ABCA10 0 genome.wustl.edu 37 17 67170783 67170783 + Nonsense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 67170783 67170783 C A SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known nonsense c.3013 p.G1005* 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 86 0 0 122 10 7.57576 TEKT1 0 genome.wustl.edu 37 17 6718526 6718526 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 6718526 6718526 T C SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known silent c.585 p.S195 0.227 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 151 0 0 108 9 7.69231 ABCA10 0 genome.wustl.edu 37 17 67210857 67210857 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 67210857 67210857 G A SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known nonsense c.994 p.R332* 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 94 0 0 86 9 9.47368 SLC39A11 0 genome.wustl.edu 37 17 70943934 70943934 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 70943934 70943934 A G SNP SLC39A11 ENST00000542342 human ensembl 74_37 -1 known silent c.387 p.G129 0.043 pfam_ZIP pfam_ZIP - no_errors SLC39A11 HGNC ENSG00000133195 87 0 0 72 5 6.49351 CDC42EP4 0 genome.wustl.edu 37 17 71281599 71281599 + Nonstop_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 71281599 71281599 A G SNP CDC42EP4 ENST00000581014 human ensembl 74_37 -1 putative nonstop c.238 p.*80R 0.978 NULL NULL - no_errors CDC42EP4 HGNC ENSG00000179604 157 0 0 123 13 9.55882 SDK2 0 genome.wustl.edu 37 17 71380095 71380095 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 71380095 71380095 C T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.4625 p.R1542Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 46 0 0 37 4 9.7561 SDK2 0 genome.wustl.edu 37 17 71398134 71398134 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 71398134 71398134 G A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known silent c.2631 p.P877 0.010 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 25 0 0 15 9 37.5 ELP5 0 genome.wustl.edu 37 17 7155822 7155822 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 7155822 7155822 A G SNP ELP5 ENST00000354429 human ensembl 74_37 +1 known missense c.1 p.M1V 0.025 NULL pfam_Elp5 - no_errors ELP5 HGNC ENSG00000170291 25 0 0 27 4 12.9032 OTOP3 0 genome.wustl.edu 37 17 72945440 72945440 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 72945440 72945440 G A SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.1720 p.G574S 0.997 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 97 0 0 93 8 7.92079 C17orf74 0 genome.wustl.edu 37 17 7329644 7329644 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 7329644 7329644 T C SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.334 p.F112L 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 184 0 0 103 52 33.5484 LLGL2 0 genome.wustl.edu 37 17 73568034 73568034 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 73568034 73568034 C T SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known silent c.2349 p.D783 0.955 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 41 0 0 30 5 14.2857 ZBTB4 0 genome.wustl.edu 37 17 7365271 7365271 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 7365271 7365271 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known silent c.3030 p.G1010 0.998 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 43 0 0 51 10 16.3934 ITGB4 0 genome.wustl.edu 37 17 73747158 73747158 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 73747158 73747158 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known silent c.3759 p.Y1253 0.109 pirsf_Integrin_bsu-4,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 80 0 0 53 18 25.3521 FBF1 0 genome.wustl.edu 37 17 73916363 73916363 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 73916363 73916363 C T SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.1780 p.E594K 1.000 superfamily_HRDC-like superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 32 0 0 14 6 30 ACOX1 0 genome.wustl.edu 37 17 73946860 73946860 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 73946860 73946860 C T SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known silent c.1293 p.T431 0.001 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 99 0 0 56 24 30 EVPL 0 genome.wustl.edu 37 17 74005245 74005245 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 74005245 74005245 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.4041 p.A1347 0.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 58 0 0 62 4 6.06061 EVPL 0 genome.wustl.edu 37 17 74011054 74011054 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 74011054 74011054 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.2165 p.R722H 0.741 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 60 0 0 44 7 13.7255 QRICH2 0 genome.wustl.edu 37 17 74278023 74278023 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 74278023 74278023 C T SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known silent c.3687 p.R1229 0.990 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 29 0 0 24 5 17.2414 SPHK1 0 genome.wustl.edu 37 17 74382513 74382513 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 74382513 74382513 G A SNP SPHK1 ENST00000323374 human ensembl 74_37 +1 known missense c.556 p.A186T 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 63 0 0 56 4 6.66667 ST6GALNAC2 0 genome.wustl.edu 37 17 74566696 74566696 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 74566696 74566696 A T SNP ST6GALNAC2 ENST00000225276 human ensembl 74_37 -1 known missense c.724 p.S242T 0.279 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ENSG00000070731 45 0 0 38 4 9.52381 SEPT9 0 genome.wustl.edu 37 17 75398265 75398265 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 75398265 75398265 C T SNP SEPT9 ENST00000427177 human ensembl 74_37 +1 known silent c.201 p.G67 0.929 NULL pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase - no_errors SEPT9 HGNC ENSG00000184640 61 0 0 50 20 28.5714 TNRC6C 0 genome.wustl.edu 37 17 76089061 76089061 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 76089061 76089061 A G SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.4009 p.I1337V 1.000 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 44 0 0 31 3 8.82353 DNAH17 0 genome.wustl.edu 37 17 76548815 76548815 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 76548815 76548815 A G SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.2251 p.L751 0.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 242 0 0 228 22 8.8 DNAH2 0 genome.wustl.edu 37 17 7695578 7695578 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 7695578 7695578 A G SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.7062 p.V2354 0.859 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 74 0 0 91 8 8.08081 ENGASE 0 genome.wustl.edu 37 17 77076406 77076406 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 77076406 77076406 G A SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known missense c.683 p.R228H 0.431 pfam_Glyco_hydro_85 pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 94 0 0 45 16 26.2295 DNAH2 0 genome.wustl.edu 37 17 7721318 7721318 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 7721318 7721318 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.10291 p.A3431T 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 160 0 0 155 19 10.9195 KDM6B 0 genome.wustl.edu 37 17 7750893 7750893 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 7750893 7750893 G A SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known silent c.1287 p.A429 0.984 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 50 0 0 32 19 37.2549 CBX4 0 genome.wustl.edu 37 17 77809003 77809003 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 77809003 77809003 C T SNP CBX4 ENST00000269397 human ensembl 74_37 -1 known silent c.438 p.K146 0.996 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 130 0 0 95 13 12.037 CHD3 0 genome.wustl.edu 37 17 7807305 7807305 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 7807305 7807305 A G SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.3890 p.D1297G 1.000 pfam_DUF1087 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 103 0 0 75 4 5.06329 CHD3 0 genome.wustl.edu 37 17 7813856 7813856 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 7813856 7813856 C T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.5701 p.R1901C 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 70 0 0 50 8 13.7931 RNF213 0 genome.wustl.edu 37 17 78269393 78269393 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 78269393 78269393 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.1792 p.V598M 0.001 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 25 0 0 30 10 25 RPTOR 0 genome.wustl.edu 37 17 78599517 78599517 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 78599517 78599517 T C SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.189 p.V63 0.010 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 149 0 0 115 11 8.73016 AATK 0 genome.wustl.edu 37 17 79094124 79094124 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 79094124 79094124 C T SNP AATK ENST00000326724 human ensembl 74_37 -1 known silent c.3612 p.A1204 0.031 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 AATK HGNC ENSG00000181409 21 0 0 22 4 15.3846 AZI1 0 genome.wustl.edu 37 17 79173252 79173252 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 79173252 79173252 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.1121 p.R374Q 0.000 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 15 0 0 13 6 31.5789 C17orf70 0 genome.wustl.edu 37 17 79512907 79512907 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 79512907 79512907 G A SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known silent c.2175 p.G725 0.000 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 30 0 0 11 4 26.6667 TSPAN10 0 genome.wustl.edu 37 17 79612028 79612028 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 79612028 79612028 G A SNP TSPAN10 ENST00000328585 human ensembl 74_37 +1 known missense c.47 p.G16D 0.001 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 38 0 0 41 3 6.81818 ALYREF 0 genome.wustl.edu 37 17 79846261 79846261 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 79846261 79846261 G A SNP ALYREF ENST00000505490 human ensembl 74_37 -1 known silent c.636 p.G212 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ALYREF HGNC ENSG00000183684 34 0 0 31 2 6.06061 RFNG 0 genome.wustl.edu 37 17 80006940 80006940 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 80006940 80006940 G A SNP RFNG ENST00000310496 human ensembl 74_37 -1 known missense c.881 p.A294V 0.267 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors RFNG HGNC ENSG00000169733 58 0 0 39 10 20.4082 CCDC57 0 genome.wustl.edu 37 17 80059604 80059604 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 80059604 80059604 C T SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known missense c.2705 p.G902D 0.000 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 149 0 0 125 12 8.75912 CSNK1D 0 genome.wustl.edu 37 17 80213367 80213367 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 80213367 80213367 G T SNP CSNK1D ENST00000314028 human ensembl 74_37 -1 known missense c.274 p.L92I 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 CSNK1D HGNC ENSG00000141551 123 0 0 112 15 11.811 CD7 0 genome.wustl.edu 37 17 80274772 80274772 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 80274772 80274772 C T SNP CD7 ENST00000581434 human ensembl 74_37 -1 known missense c.98 p.G33E 0.011 NULL NULL - no_errors CD7 HGNC ENSG00000173762 79 0 0 47 4 7.84314 TBCD 0 genome.wustl.edu 37 17 80861301 80861301 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 80861301 80861301 C T SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.1751 p.A584V 0.030 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 11 0 0 9 3 25 CCDC42 0 genome.wustl.edu 37 17 8638542 8638542 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 8638542 8638542 C T SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.745 p.A249T 0.927 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 60 0 0 36 11 23.4043 APCDD1 0 genome.wustl.edu 37 18 10468632 10468632 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 10468632 10468632 C T SNP APCDD1 ENST00000355285 human ensembl 74_37 +1 known silent c.225 p.G75 0.972 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 66 0 0 45 5 10 MC2R 0 genome.wustl.edu 37 18 13884951 13884951 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 13884951 13884951 G A SNP MC2R ENST00000327606 human ensembl 74_37 -1 known silent c.567 p.I189 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 93 0 0 80 8 9.09091 ANKRD30B 0 genome.wustl.edu 37 18 14782566 14782566 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 14782566 14782566 C A SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.1523 p.P508H 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 32 0 0 20 6 23.0769 SS18 0 genome.wustl.edu 37 18 23637588 23637588 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 23637588 23637588 G A SNP SS18 ENST00000415083 human ensembl 74_37 -1 known missense c.350 p.P117L 1.000 NULL pfam_SS18_fam - no_errors SS18 HGNC ENSG00000141380 91 0 0 75 13 14.7727 DSG4 0 genome.wustl.edu 37 18 28965115 28965115 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 28965115 28965115 A G SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.65 p.N22S 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 100 0 0 83 10 10.7527 TRAPPC8 0 genome.wustl.edu 37 18 29522637 29522637 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 29522637 29522637 G A SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known missense c.91 p.L31F 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 10 0 0 8 3 27.2727 ASXL3 0 genome.wustl.edu 37 18 31326458 31326458 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 31326458 31326458 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.6646 p.R2216W 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 41 0 0 30 6 16.6667 DTNA 0 genome.wustl.edu 37 18 32455306 32455306 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 32455306 32455306 C T SNP DTNA ENST00000269190 human ensembl 74_37 +1 known missense c.1769 p.T590M 0.986 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 85 0 0 67 27 28.7234 SLC39A6 0 genome.wustl.edu 37 18 33706548 33706548 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 33706548 33706548 C T SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known silent c.423 p.K141 0.271 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 45 0 0 40 7 14.8936 ELP2 0 genome.wustl.edu 37 18 33726340 33726340 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 33726340 33726340 A G SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known missense c.1121 p.N374S 0.812 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 59 0 0 54 12 18.1818 DLGAP1 0 genome.wustl.edu 37 18 3729198 3729198 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 3729198 3729198 A G SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.1528 p.S510P 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 33 0 0 28 13 31.7073 ACAA2 0 genome.wustl.edu 37 18 47311699 47311699 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 47311699 47311699 T C SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.977 p.Q326R 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 38 0 0 39 5 11.3636 CCDC68 0 genome.wustl.edu 37 18 52571597 52571597 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 52571597 52571597 G A SNP CCDC68 ENST00000337363 human ensembl 74_37 -1 known missense c.1000 p.R334W 0.999 NULL superfamily_Prefoldin - no_errors CCDC68 HGNC ENSG00000166510 62 0 0 50 13 20.6349 EPB41L3 0 genome.wustl.edu 37 18 5419828 5419828 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 5419828 5419828 T G SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.1388 p.N463T 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 73 0 0 73 4 5.19481 ZNF532 0 genome.wustl.edu 37 18 56651464 56651464 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 56651464 56651464 C T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known silent c.3672 p.I1224 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 46 0 0 52 6 10.3448 SERPINB4 0 genome.wustl.edu 37 18 61305030 61305030 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 61305030 61305030 T C SNP SERPINB4 ENST00000341074 human ensembl 74_37 -1 known missense c.1096 p.N366D 0.994 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB4 HGNC ENSG00000206073 130 0 0 148 13 8.07453 SERPINB8 0 genome.wustl.edu 37 18 61649053 61649053 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 61649053 61649053 G A SNP SERPINB8 ENST00000353706 human ensembl 74_37 +1 known nonsense c.405 p.W135* 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 149 0 0 146 11 7.00637 TMX3 0 genome.wustl.edu 37 18 66350180 66350180 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 66350180 66350180 A G SNP TMX3 ENST00000299608 human ensembl 74_37 -1 known missense c.887 p.I296T 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 136 0 0 160 17 9.60452 LAMA1 0 genome.wustl.edu 37 18 6999505 6999505 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 6999505 6999505 G T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.4602 p.A1534 0.023 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,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 34 0 0 32 17 34.6939 CBLN2 0 genome.wustl.edu 37 18 70205584 70205584 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 70205584 70205584 G T SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.502 p.P168T 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 85 0 0 67 7 9.45946 FBXO15 0 genome.wustl.edu 37 18 71740785 71740785 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 71740785 71740785 T A SNP FBXO15 ENST00000419743 human ensembl 74_37 -1 known missense c.1444 p.I482F 0.874 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 245 1 0.406504 194 16 7.61905 PTPRM 0 genome.wustl.edu 37 18 7567873 7567873 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 7567873 7567873 G A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known silent c.57 p.A19 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,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 PTPRM HGNC ENSG00000173482 61 0 0 53 17 24.2857 SALL3 0 genome.wustl.edu 37 18 76754750 76754750 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 76754750 76754750 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.2759 p.P920L 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 15 0 0 15 8 34.7826 SOGA2 0 genome.wustl.edu 37 18 8720350 8720350 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 8720350 8720350 A G SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.213 p.V71 0.678 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 112 0 0 87 9 9.375 VAPA 0 genome.wustl.edu 37 18 9944964 9944964 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 9944964 9944964 G A SNP VAPA ENST00000340541 human ensembl 74_37 +1 known missense c.461 p.S154N 0.984 pirsf_Vesicle-associated_membrane pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom - no_errors VAPA HGNC ENSG00000101558 104 0 0 87 19 17.9245 TMEM259 0 genome.wustl.edu 37 19 1012464 1012464 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 1012464 1012464 A G SNP TMEM259 ENST00000356663 human ensembl 74_37 -1 known missense c.716 p.L239P 1.000 pfam_Membralin pfam_Membralin - no_errors TMEM259 HGNC ENSG00000182087 17 0 0 13 2 13.3333 ANGPTL6 0 genome.wustl.edu 37 19 10203376 10203376 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 10203376 10203376 G A SNP ANGPTL6 ENST00000253109 human ensembl 74_37 -1 known silent c.1302 p.H434 0.065 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL6 HGNC ENSG00000130812 58 0 0 45 15 25 TYK2 0 genome.wustl.edu 37 19 10463616 10463616 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 10463616 10463616 G A SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known silent c.3186 p.D1062 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 84 0 0 81 9 10 KEAP1 0 genome.wustl.edu 37 19 10610476 10610476 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 10610476 10610476 G A SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known silent c.234 p.D78 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_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 KEAP1 HGNC ENSG00000079999 66 0 0 36 9 20 POLR2E 0 genome.wustl.edu 37 19 1095303 1095303 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 1095303 1095303 C G SNP POLR2E ENST00000215587 human ensembl 74_37 -1 known missense c.12 p.E4D 1.000 pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,pirsf_DNA_RNA_pol_RPB5_euk/virus pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA_RNA_pol_RPB5_euk/virus - no_errors POLR2E HGNC ENSG00000099817 84 0 0 58 7 10.7692 SMARCA4 0 genome.wustl.edu 37 19 11096047 11096047 + Silent SNP G G C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 11096047 11096047 G C SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.321 p.G107 0.998 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,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 33 0 0 35 2 5.40541 DOCK6 0 genome.wustl.edu 37 19 11313233 11313233 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 11313233 11313233 G A SNP DOCK6 ENST00000586702 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DOCK6 HGNC ENSG00000130158 227 0 0 139 51 26.8421 TSPAN16 0 genome.wustl.edu 37 19 11408917 11408917 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 11408917 11408917 G A SNP TSPAN16 ENST00000316737 human ensembl 74_37 +1 known missense c.169 p.V57I 0.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN16 HGNC ENSG00000130167 94 0 0 78 27 25.7143 LPPR2 0 genome.wustl.edu 37 19 11471930 11471930 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 11471930 11471930 C T SNP LPPR2 ENST00000591608 human ensembl 74_37 +1 known silent c.354 p.F118 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DKFZP761J1410 Uniprot_gn ENSG00000105520 87 0 0 42 19 31.1475 ACP5 0 genome.wustl.edu 37 19 11687099 11687099 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 11687099 11687099 C T SNP ACP5 ENST00000218758 human ensembl 74_37 -1 known missense c.694 p.G232R 0.972 pfam_PEstase_dom pfam_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 57 0 0 30 4 11.7647 MAN2B1 0 genome.wustl.edu 37 19 12769060 12769060 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 12769060 12769060 C T SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.1208 p.R403H 1.000 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,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 MAN2B1 HGNC ENSG00000104774 65 0 0 47 22 31.8841 ZSWIM4 0 genome.wustl.edu 37 19 13919924 13919924 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 13919924 13919924 G A SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.902 p.R301H 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 83 0 0 96 13 11.9266 LPHN1 0 genome.wustl.edu 37 19 14269224 14269224 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 14269224 14269224 C T SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.2305 p.A769T 0.879 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 84 0 0 70 6 7.89474 CCDC105 0 genome.wustl.edu 37 19 15132166 15132166 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 15132166 15132166 G A SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known silent c.876 p.A292 0.946 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 19 0 0 17 6 26.087 CYP4F2 0 genome.wustl.edu 37 19 16000370 16000370 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 16000370 16000370 G A SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.781 p.R261C 0.283 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 134 0 0 121 19 13.5714 CYP4F11 0 genome.wustl.edu 37 19 16040401 16040401 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 16040401 16040401 G A SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.209 p.T70M 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 122 0 0 109 14 11.3821 MED26 0 genome.wustl.edu 37 19 16688383 16688383 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 16688383 16688383 C T SNP MED26 ENST00000263390 human ensembl 74_37 -1 known silent c.258 p.P86 0.010 superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 38 0 0 31 10 24.3902 TMEM38A 0 genome.wustl.edu 37 19 16791318 16791318 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 16791318 16791318 C T SNP TMEM38A ENST00000187762 human ensembl 74_37 +1 known missense c.392 p.A131V 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 175 1 0.568182 127 15 10.5634 HAUS8 0 genome.wustl.edu 37 19 17179875 17179875 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 17179875 17179875 C T SNP HAUS8 ENST00000253669 human ensembl 74_37 -1 known missense c.113 p.R38Q 0.914 NULL NULL - no_errors HAUS8 HGNC ENSG00000131351 28 0 0 26 4 13.3333 B3GNT3 0 genome.wustl.edu 37 19 17922546 17922546 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 17922546 17922546 T C SNP B3GNT3 ENST00000318683 human ensembl 74_37 +1 known missense c.734 p.I245T 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC ENSG00000179913 97 0 0 72 5 6.49351 UPF1 0 genome.wustl.edu 37 19 18967788 18967788 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 18967788 18967788 G A SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.1960 p.E654K 1.000 superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 119 0 0 111 11 9.01639 DDX49 0 genome.wustl.edu 37 19 19035782 19035782 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 19035782 19035782 C A SNP DDX49 ENST00000247003 human ensembl 74_37 +1 known missense c.1021 p.R341S 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 37 0 0 28 12 30 SUGP2 0 genome.wustl.edu 37 19 19112469 19112469 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 19112469 19112469 G A SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known nonsense c.2944 p.R982* 1.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 72 0 0 70 4 5.40541 NCAN 0 genome.wustl.edu 37 19 19360629 19360629 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 19360629 19360629 A G SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.3875 p.Q1292R 1.000 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 62 0 0 46 9 16.3636 GATAD2A 0 genome.wustl.edu 37 19 19609410 19609410 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 19609410 19609410 C T SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known silent c.1083 p.L361 0.969 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 22 0 0 31 2 6.06061 ZNF43 0 genome.wustl.edu 37 19 22000730 22000730 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 22000730 22000730 C A SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.189 p.W63C 0.176 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 ZNF43 HGNC ENSG00000198521 114 0 0 124 7 5.34351 LOC440518 0 genome.wustl.edu 37 19 22785471 22785471 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 22785471 22785471 C T SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 100 0 0 82 19 18.8119 LINGO3 0 genome.wustl.edu 37 19 2290137 2290137 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 2290137 2290137 C T SNP LINGO3 ENST00000404279 human ensembl 74_37 -1 known missense c.1639 p.V547M 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO3 HGNC ENSG00000220008 33 0 0 15 7 31.8182 TLE6 0 genome.wustl.edu 37 19 2991927 2991927 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 2991927 2991927 G T SNP TLE6 ENST00000246112 human ensembl 74_37 +1 known missense c.1331 p.R444L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 77 0 0 48 17 26.1538 TLE2 0 genome.wustl.edu 37 19 3005947 3005947 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 3005947 3005947 C T SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.1520 p.R507H 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 57 0 0 40 15 27.2727 SLC7A9 0 genome.wustl.edu 37 19 33353425 33353425 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 33353425 33353425 C T SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known silent c.546 p.A182 0.076 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 69 0 0 38 17 30.9091 CHST8 0 genome.wustl.edu 37 19 34263385 34263385 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 34263385 34263385 G A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.692 p.S231N 0.844 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 87 0 0 45 10 18.1818 HPN 0 genome.wustl.edu 37 19 35550829 35550829 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 35550829 35550829 G A SNP HPN ENST00000262626 human ensembl 74_37 +1 known silent c.342 p.T114 0.629 pfam_Hepsin-SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 12 0 0 6 6 50 MAG 0 genome.wustl.edu 37 19 35800865 35800865 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 35800865 35800865 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known silent c.1320 p.P440 0.000 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 137 0 0 105 7 6.25 KMT2B 0 genome.wustl.edu 37 19 36223564 36223564 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 36223564 36223564 T C SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.6114 p.P2038 0.997 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 23 0 0 28 2 6.66667 U2AF1L4 0 genome.wustl.edu 37 19 36235042 36235042 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 36235042 36235042 C A SNP U2AF1L4 ENST00000412391 human ensembl 74_37 -1 known missense c.353 p.R118L 0.988 pfam_RRM_dom,smart_RRM_dom_euk,prints_U2_small,pfscan_RRM_dom pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,prints_U2_small,pfscan_RRM_dom - no_errors U2AF1L4 HGNC ENSG00000161265 54 0 0 28 10 26.3158 ARHGAP33 0 genome.wustl.edu 37 19 36278199 36278199 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 36278199 36278199 T C SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.2732 p.V911A 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 51 0 0 40 19 32.2034 WDR62 0 genome.wustl.edu 37 19 36593955 36593955 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 36593955 36593955 C T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known silent c.3441 p.Y1147 0.293 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 37 0 0 33 4 10.8108 ZNF146 0 genome.wustl.edu 37 19 36727780 36727780 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 36727780 36727780 T C SNP ZNF146 ENST00000443387 human ensembl 74_37 +1 known silent c.438 p.H146 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF146 HGNC ENSG00000167635 89 0 0 85 7 7.6087 ZNF345 0 genome.wustl.edu 37 19 37367968 37367968 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 37367968 37367968 G A SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known missense c.236 p.R79Q 0.005 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 55 0 0 38 16 29.6296 ZNF569 0 genome.wustl.edu 37 19 37903706 37903706 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 37903706 37903706 G T SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1854 p.S618R 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 ZNF569 HGNC ENSG00000196437 78 0 0 74 22 22.9167 PAPL 0 genome.wustl.edu 37 19 39589701 39589701 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 39589701 39589701 C A SNP PAPL ENST00000331256 human ensembl 74_37 +1 known missense c.424 p.L142M 1.000 pfam_PEstase_dom pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 60 0 0 73 4 5.19481 EEF2 0 genome.wustl.edu 37 19 3977944 3977944 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 3977944 3977944 C T SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.1940 p.R647H 0.997 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 66 0 0 34 18 34.6154 ZNF780B 0 genome.wustl.edu 37 19 40541822 40541822 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 40541822 40541822 C T SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.944 p.R315Q 0.023 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 ZNF780B HGNC ENSG00000128000 104 0 0 116 9 7.2 ADCK4 0 genome.wustl.edu 37 19 41209479 41209479 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 41209479 41209479 C T SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known missense c.766 p.A256T 0.999 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 50 0 0 46 6 11.5385 CYP2F1 0 genome.wustl.edu 37 19 41630643 41630643 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 41630643 41630643 C T SNP CYP2F1 ENST00000532164 human ensembl 74_37 +1 known missense c.926 p.S309L 0.882 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam - no_errors CYP2F1 HGNC ENSG00000197446 26 0 0 24 5 17.2414 CYP2S1 0 genome.wustl.edu 37 19 41700534 41700534 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 41700534 41700534 G A SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.263 p.R88Q 0.010 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 70 0 0 49 11 18.3333 CD79A 0 genome.wustl.edu 37 19 42383351 42383351 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 42383351 42383351 G A SNP CD79A ENST00000221972 human ensembl 74_37 +1 known missense c.371 p.R124H 0.851 smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 39 0 0 21 5 19.2308 ATP1A3 0 genome.wustl.edu 37 19 42489240 42489240 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 42489240 42489240 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.823 p.A275T 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 26 0 0 27 3 10 MEGF8 0 genome.wustl.edu 37 19 42880243 42880243 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 42880243 42880243 C T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.7854 p.G2618 0.677 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 54 0 0 41 16 28.0702 PSG1 0 genome.wustl.edu 37 19 43376071 43376071 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 43376071 43376071 C T SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.557 p.S186N 0.023 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 296 0 0 241 83 25.6173 CD177 0 genome.wustl.edu 37 19 43859890 43859890 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 43859890 43859890 A G SNP CD177 ENST00000378009 human ensembl 74_37 +1 known missense c.457 p.K153E 0.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors CD177 HGNC ENSG00000204936 55 0 0 34 12 26.087 XRCC1 0 genome.wustl.edu 37 19 44057061 44057061 + Splice_Site SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 44057061 44057061 C A SNP XRCC1 ENST00000262887 human ensembl 74_37 -1 known splice_site c.712-1 e8-1 0.981 - - - no_errors XRCC1 HGNC ENSG00000073050 16 0 0 16 3 15.7895 ZNF155 0 genome.wustl.edu 37 19 44500799 44500799 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 44500799 44500799 G T SNP ZNF155 ENST00000270014 human ensembl 74_37 +1 known missense c.790 p.A264S 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF155 HGNC ENSG00000204920 136 0 0 148 20 11.9048 CEACAM19 0 genome.wustl.edu 37 19 45179597 45179597 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 45179597 45179597 C T SNP CEACAM19 ENST00000403660 human ensembl 74_37 +1 known missense c.479 p.A160V 0.000 NULL pfam_Ig_V-set - no_errors CEACAM19 HGNC ENSG00000186567 61 0 0 60 24 28.5714 GIPR 0 genome.wustl.edu 37 19 46176148 46176148 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 46176148 46176148 G A SNP GIPR ENST00000590918 human ensembl 74_37 +1 known missense c.320 p.G107D 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 60 0 0 56 9 13.8462 DMPK 0 genome.wustl.edu 37 19 46280967 46280967 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 46280967 46280967 C T SNP DMPK ENST00000343373 human ensembl 74_37 -1 known silent c.870 p.A290 0.236 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors DMPK HGNC ENSG00000104936 183 0 0 144 15 9.43396 ARHGAP35 0 genome.wustl.edu 37 19 47422062 47422062 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 47422062 47422062 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.130 p.R44C 1.000 superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 60 0 0 85 7 7.6087 BCAT2 0 genome.wustl.edu 37 19 49303347 49303347 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 49303347 49303347 T G SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.422 p.K141T 1.000 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 73 0 0 71 4 5.33333 PPFIA3 0 genome.wustl.edu 37 19 49642973 49642973 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 49642973 49642973 G A SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.2125 p.A709T 0.975 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 65 0 0 57 19 25 PRR12 0 genome.wustl.edu 37 19 50099565 50099565 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 50099565 50099565 C T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.1973 p.A658V 0.906 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 20 0 0 11 8 42.1053 PRMT1 0 genome.wustl.edu 37 19 50189959 50189959 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 50189959 50189959 C T SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known silent c.1008 p.G336 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 89 0 0 68 6 8.10811 PRMT1 0 genome.wustl.edu 37 19 50191558 50191558 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 50191558 50191558 C T SNP PRMT1 ENST00000527866 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRMT1 HGNC ENSG00000126457 24 0 0 21 8 27.5862 TSKS 0 genome.wustl.edu 37 19 50249873 50249873 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 50249873 50249873 G A SNP TSKS ENST00000246801 human ensembl 74_37 -1 known silent c.846 p.C282 0.593 NULL NULL - no_errors TSKS HGNC ENSG00000126467 45 0 0 33 12 26.6667 KDM4B 0 genome.wustl.edu 37 19 5032920 5032920 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 5032920 5032920 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.19 p.G7S 0.602 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 104 0 0 65 24 26.9663 MYH14 0 genome.wustl.edu 37 19 50794294 50794294 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 50794294 50794294 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.5116 p.R1706C 0.836 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,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 MYH14 HGNC ENSG00000105357 21 0 0 24 9 27.2727 POLD1 0 genome.wustl.edu 37 19 50910265 50910265 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 50910265 50910265 G A SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.1520 p.R507H 1.000 superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 194 0 0 146 14 8.75 LRRC4B 0 genome.wustl.edu 37 19 51021034 51021034 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 51021034 51021034 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1936 p.G646R 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 14 0 0 11 6 35.2941 GPR32 0 genome.wustl.edu 37 19 51273872 51273872 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 51273872 51273872 G A SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known silent c.15 p.S5 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 40 0 0 17 3 15 KDM4B 0 genome.wustl.edu 37 19 5131974 5131974 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 5131974 5131974 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.1862 p.R621Q 0.994 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 19 0 0 9 3 25 KLK15 0 genome.wustl.edu 37 19 51330229 51330229 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 51330229 51330229 G A SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known missense c.386 p.T129M 0.005 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 55 0 0 47 28 37.3333 SIGLEC5 0 genome.wustl.edu 37 19 52130718 52130718 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 52130718 52130718 G T SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.1279 p.Q427K 0.913 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 204 0 0 139 53 27.6042 PTPRS 0 genome.wustl.edu 37 19 5214592 5214592 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 5214592 5214592 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.4477 p.R1493W 0.271 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 57 0 0 33 11 25 ZNF350 0 genome.wustl.edu 37 19 52469195 52469195 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 52469195 52469195 G A SNP ZNF350 ENST00000243644 human ensembl 74_37 -1 known nonsense c.511 p.R171* 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 ZNF350 HGNC ENSG00000256683 124 0 0 105 27 20.4545 ZNF616 0 genome.wustl.edu 37 19 52618898 52618898 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 52618898 52618898 G A SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.1519 p.R507C 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 ZNF616 HGNC ENSG00000204611 119 0 0 126 24 16 ZNF616 0 genome.wustl.edu 37 19 52620202 52620202 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 52620202 52620202 A G SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.215 p.V72A 0.000 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 ZNF616 HGNC ENSG00000204611 79 0 0 64 10 13.5135 ZNF83 0 genome.wustl.edu 37 19 53116634 53116634 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 53116634 53116634 T C SNP ZNF83 ENST00000301096 human ensembl 74_37 -1 known missense c.1184 p.H395R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 99 0 0 106 11 9.40171 ZNF320 0 genome.wustl.edu 37 19 53367219 53367219 + RNA SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 53367219 53367219 A G SNP ZNF320 ENST00000595202 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors ZNF320 HGNC ENSG00000182986 21 0 0 29 5 14.7059 MIR515-1 0 genome.wustl.edu 37 19 54182284 54182284 + RNA SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 54182284 54182284 G T SNP MIR515-1 ENST00000384884 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors MIR515-1 HGNC ENSG00000207616 43 0 0 33 5 13.1579 LILRA5 0 genome.wustl.edu 37 19 54822903 54822903 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 54822903 54822903 G A SNP LILRA5 ENST00000301219 human ensembl 74_37 -1 known missense c.493 p.R165W 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 84 0 0 81 7 7.95455 LILRA4 0 genome.wustl.edu 37 19 54848764 54848764 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 54848764 54848764 G A SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known missense c.859 p.R287C 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 56 0 0 37 15 28.8462 FCAR 0 genome.wustl.edu 37 19 55401033 55401033 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 55401033 55401033 A G SNP FCAR ENST00000355524 human ensembl 74_37 +1 known missense c.668 p.Y223C 0.064 NULL smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 639 1 0.15625 489 41 7.73585 ZNF628 0 genome.wustl.edu 37 19 55993235 55993235 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 55993235 55993235 G A SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known silent c.675 p.T225 0.152 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 12 0 0 1 5 83.3333 U2AF2 0 genome.wustl.edu 37 19 56166473 56166473 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 56166473 56166473 G A SNP U2AF2 ENST00000308924 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 34 0 0 34 5 12.8205 ZNF787 0 genome.wustl.edu 37 19 56599515 56599515 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 56599515 56599515 G A SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known silent c.1026 p.G342 0.779 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 28 0 0 22 4 15.3846 ZNF71 0 genome.wustl.edu 37 19 57133439 57133439 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 57133439 57133439 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.784 p.R262C 0.666 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 87 0 0 47 10 17.5439 ZIM2 0 genome.wustl.edu 37 19 57286450 57286450 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 57286450 57286450 G T SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.1190 p.A397E 0.000 NULL 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 49 0 0 44 9 16.9811 PEG3 0 genome.wustl.edu 37 19 57325987 57325987 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 57325987 57325987 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3823 p.S1275R 0.272 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 27 0 0 47 3 6 ZNF805 0 genome.wustl.edu 37 19 57765778 57765778 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 57765778 57765778 A G SNP ZNF805 ENST00000414468 human ensembl 74_37 +1 known missense c.1591 p.I531V 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF805 HGNC ENSG00000204524 72 0 0 71 5 6.57895 ZNF543 0 genome.wustl.edu 37 19 57840273 57840273 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 57840273 57840273 C T SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known silent c.1443 p.C481 0.307 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 ZNF543 HGNC ENSG00000178229 112 0 0 74 8 9.7561 ENSG00000268230 0 genome.wustl.edu 37 19 58867479 58867479 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 58867479 58867479 G A SNP ENSG00000268230 ENST00000600123 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-2619J13.8 Clone_based_vega_gene ENSG00000268230 19 0 0 7 6 46.1538 ZBTB45 0 genome.wustl.edu 37 19 59028928 59028928 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 59028928 59028928 C T SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known missense c.113 p.R38H 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 92 0 0 31 14 31.1111 RFX2 0 genome.wustl.edu 37 19 6042100 6042100 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 6042100 6042100 A G SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.215 p.V72A 1.000 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 133 0 0 84 19 18.4466 PRSS57 0 genome.wustl.edu 37 19 691994 691994 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 691994 691994 C T SNP PRSS57 ENST00000329267 human ensembl 74_37 -1 known missense c.245 p.R82H 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS57 HGNC ENSG00000185198 18 0 0 7 3 30 MCOLN1 0 genome.wustl.edu 37 19 7591468 7591468 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 7591468 7591468 G T SNP MCOLN1 ENST00000264079 human ensembl 74_37 +1 known missense c.381 p.Q127H 0.995 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 113 0 0 89 34 27.6423 CAMSAP3 0 genome.wustl.edu 37 19 7675435 7675435 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 7675435 7675435 C A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known silent c.915 p.A305 0.643 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 257 0 0 162 50 23.5849 ELAVL1 0 genome.wustl.edu 37 19 8038749 8038749 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 8038749 8038749 C T SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known missense c.371 p.R124H 1.000 pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 70 0 0 52 4 7.14286 MYO1F 0 genome.wustl.edu 37 19 8595150 8595150 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 8595150 8595150 C T SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.2258 p.R753H 0.999 pfam_Myosin_tail_2,superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 320 0 0 245 25 9.25926 ACTL9 0 genome.wustl.edu 37 19 8807821 8807821 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 8807821 8807821 C T SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.1231 p.V411M 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 117 0 0 78 18 18.75 R3HDM4 0 genome.wustl.edu 37 19 902066 902066 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 902066 902066 G A SNP R3HDM4 ENST00000361574 human ensembl 74_37 -1 known missense c.136 p.R46W 1.000 NULL pfscan_R3H_ss-bd - no_errors R3HDM4 HGNC ENSG00000198858 91 0 0 91 18 16.5138 OR7D2 0 genome.wustl.edu 37 19 9296577 9296577 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 9296577 9296577 G A SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known silent c.120 p.L40 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 88 0 0 88 25 22.1239 ZNF699 0 genome.wustl.edu 37 19 9406947 9406947 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 9406947 9406947 A G SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known missense c.1133 p.L378P 0.503 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 ZNF699 HGNC ENSG00000196110 64 0 0 71 7 8.97436 ZNF426 0 genome.wustl.edu 37 19 9639131 9639131 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 9639131 9639131 T G SNP ZNF426 ENST00000253115 human ensembl 74_37 -1 known missense c.1590 p.K530N 0.512 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 63 0 0 51 7 12.069 NCK2 0 genome.wustl.edu 37 2 106498353 106498353 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 106498353 106498353 G A SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.796 p.A266T 0.433 superfamily_SH3_domain,pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 42 0 0 31 6 16.2162 POLR1B 0 genome.wustl.edu 37 2 113332680 113332680 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 113332680 113332680 A G SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known missense c.2896 p.M966V 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 126 0 0 128 13 9.21986 GREB1 0 genome.wustl.edu 37 2 11706636 11706636 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 11706636 11706636 T G SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.308 p.L103R 0.990 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 53 0 0 58 5 7.93651 GREB1 0 genome.wustl.edu 37 2 11774326 11774326 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 11774326 11774326 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.5061 p.D1687 0.749 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 122 0 0 82 28 25.4545 TFCP2L1 0 genome.wustl.edu 37 2 121997199 121997199 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 121997199 121997199 G A SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known silent c.795 p.Y265 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 82 0 0 62 8 11.4286 CLASP1 0 genome.wustl.edu 37 2 122215303 122215303 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 122215303 122215303 T C SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.1345 p.I449V 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 49 0 0 58 5 7.93651 POTEF 0 genome.wustl.edu 37 2 130832416 130832416 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 130832416 130832416 G A SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2629 p.R877C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 49 0 0 45 9 16.6667 POTEE 0 genome.wustl.edu 37 2 131976274 131976274 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 131976274 131976274 A C SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.299 p.K100T 0.047 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 61 0 0 47 5 9.61538 GPR39 0 genome.wustl.edu 37 2 133403128 133403128 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 133403128 133403128 G A SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known silent c.1311 p.A437 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 104 0 0 82 6 6.81818 LCT 0 genome.wustl.edu 37 2 136566490 136566490 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 136566490 136566490 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.3427 p.A1143T 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 64 0 0 51 16 23.8806 KYNU 0 genome.wustl.edu 37 2 143715236 143715236 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 143715236 143715236 T C SNP KYNU ENST00000264170 human ensembl 74_37 +1 known silent c.534 p.L178 0.989 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 75 0 0 56 24 30 ZEB2 0 genome.wustl.edu 37 2 145157300 145157300 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 145157300 145157300 T G SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.1454 p.K485T 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 62 0 0 81 9 10 RIF1 0 genome.wustl.edu 37 2 152324542 152324542 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 152324542 152324542 T C SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.6629 p.I2210T 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 88 0 0 90 10 10 NR4A2 0 genome.wustl.edu 37 2 157182339 157182339 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 157182339 157182339 G A SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.1747 p.R583C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Nuc_orph_rcpt,prints_Retinoic_acid_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_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 93 0 0 77 22 22.2222 FIGN 0 genome.wustl.edu 37 2 164467599 164467599 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 164467599 164467599 G A SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.743 p.P248L 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 62 0 0 33 3 8.33333 CSRNP3 0 genome.wustl.edu 37 2 166535234 166535234 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 166535234 166535234 C T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known silent c.729 p.C243 0.993 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 66 0 0 66 7 9.58904 XIRP2 0 genome.wustl.edu 37 2 168105930 168105930 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 168105930 168105930 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.8028 p.K2676 0.309 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 63 0 0 57 5 8.06452 LRP2 0 genome.wustl.edu 37 2 170063685 170063685 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 170063685 170063685 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.6545 p.R2182H 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 77 0 0 80 7 8.04598 LRP2 0 genome.wustl.edu 37 2 170103435 170103435 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 170103435 170103435 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.2970 p.P990 0.255 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 47 0 0 58 6 9.375 GORASP2 0 genome.wustl.edu 37 2 171807902 171807902 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 171807902 171807902 A G SNP GORASP2 ENST00000452526 human ensembl 74_37 +1 known missense c.536 p.N179S 1.000 pfam_GRASP55/65_PDZ,superfamily_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 75 0 0 74 8 9.7561 HAT1 0 genome.wustl.edu 37 2 172844276 172844276 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 172844276 172844276 G T SNP HAT1 ENST00000264108 human ensembl 74_37 +1 known missense c.1092 p.K364N 1.000 pirsf_Hist_AcTrfase_B-typ_cat-su pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su - no_errors HAT1 HGNC ENSG00000128708 58 0 0 47 5 9.61538 SCRN3 0 genome.wustl.edu 37 2 175263039 175263039 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 175263039 175263039 G A SNP SCRN3 ENST00000272732 human ensembl 74_37 +1 known missense c.28 p.V10M 1.000 NULL pfam_Peptidase_C69 - no_errors SCRN3 HGNC ENSG00000144306 75 0 0 75 8 9.63855 EVX2 0 genome.wustl.edu 37 2 176945561 176945561 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 176945561 176945561 C T SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known nonsense c.705 p.W235* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 32 0 0 22 4 15.3846 HOXD3 0 genome.wustl.edu 37 2 177036780 177036780 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 177036780 177036780 C T SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known silent c.1077 p.G359 0.113 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 17 0 0 11 6 35.2941 HOXD1 0 genome.wustl.edu 37 2 177054563 177054563 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 177054563 177054563 G A SNP HOXD1 ENST00000331462 human ensembl 74_37 +1 known missense c.680 p.S227N 0.953 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD1 HGNC ENSG00000128645 120 0 0 119 8 6.29921 TTN 0 genome.wustl.edu 37 2 179430621 179430621 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179430621 179430621 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.72534 p.N24178 0.999 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 107 0 0 128 11 7.91367 TTN 0 genome.wustl.edu 37 2 179438533 179438533 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179438533 179438533 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.64622 p.G21541D 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 46 0 0 40 17 29.8246 TTN 0 genome.wustl.edu 37 2 179440424 179440424 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179440424 179440424 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.62731 p.R20911W 0.993 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 34 0 0 41 15 26.7857 ENSG00000270574 0 genome.wustl.edu 37 2 179444126 179444126 + RNA SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179444126 179444126 A G SNP ENSG00000270574 ENST00000603521 human ensembl 74_37 +1 known rna NULL NULL 0.108 - - - no_errors RP11-171I2.2 Clone_based_vega_gene ENSG00000270574 19 0 0 16 9 36 TTN 0 genome.wustl.edu 37 2 179452031 179452031 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179452031 179452031 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.56203 p.V18735M 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 19 0 0 22 4 15.3846 TTN 0 genome.wustl.edu 37 2 179596108 179596108 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179596108 179596108 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.13653 p.K4551N 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 302 0 0 267 18 6.31579 TTN 0 genome.wustl.edu 37 2 179598399 179598399 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179598399 179598399 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.11985 p.T3995 0.191 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 81 0 0 61 19 23.75 TTN 0 genome.wustl.edu 37 2 179606044 179606044 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179606044 179606044 G A SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.11403 p.F3801 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 122 0 0 136 15 9.93377 CCDC141 0 genome.wustl.edu 37 2 179732925 179732925 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179732925 179732925 C T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.2402 p.R801H 0.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 57 0 0 40 25 38.4615 CERKL 0 genome.wustl.edu 37 2 182423344 182423344 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 182423344 182423344 G A SNP CERKL ENST00000339098 human ensembl 74_37 -1 known nonsense c.847 p.R283* 0.000 pfam_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom - no_errors CERKL HGNC ENSG00000188452 75 0 0 75 4 5.06329 NEUROD1 0 genome.wustl.edu 37 2 182542664 182542664 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 182542664 182542664 C T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known silent c.924 p.L308 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 70 0 0 54 8 12.9032 NCKAP1 0 genome.wustl.edu 37 2 183902820 183902820 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 183902820 183902820 C T SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.8 p.R3H 1.000 NULL pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 18 0 0 14 4 22.2222 FAM171B 0 genome.wustl.edu 37 2 187605049 187605049 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 187605049 187605049 G A SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known silent c.333 p.K111 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 67 0 0 59 4 6.34921 FAM171B 0 genome.wustl.edu 37 2 187615864 187615864 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 187615864 187615864 T C SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.728 p.F243S 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 106 0 0 97 9 8.49057 STAT4 0 genome.wustl.edu 37 2 191897688 191897688 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 191897688 191897688 G A SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known silent c.2040 p.C680 0.367 NULL 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,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 70 0 0 59 9 13.2353 SDPR 0 genome.wustl.edu 37 2 192701019 192701019 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 192701019 192701019 C T SNP SDPR ENST00000304141 human ensembl 74_37 -1 known missense c.908 p.R303Q 0.994 NULL NULL - no_errors SDPR HGNC ENSG00000168497 104 0 0 74 34 31.4815 MOB4 0 genome.wustl.edu 37 2 198415089 198415089 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 198415089 198415089 G A SNP MOB4 ENST00000323303 human ensembl 74_37 +1 known silent c.525 p.R175 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB4 HGNC ENSG00000115540 36 0 0 21 6 22.2222 CLK1 0 genome.wustl.edu 37 2 201718647 201718647 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 201718647 201718647 T C SNP CLK1 ENST00000321356 human ensembl 74_37 -1 known silent c.1290 p.S430 0.987 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 CLK1 HGNC ENSG00000013441 96 0 0 105 14 11.7647 CASP10 0 genome.wustl.edu 37 2 202074183 202074183 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 202074183 202074183 T G SNP CASP10 ENST00000286186 human ensembl 74_37 +1 known missense c.1313 p.L438R 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,pfam_DED,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,prints_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP10 HGNC ENSG00000003400 152 0 0 136 25 15.528 TMEM237 0 genome.wustl.edu 37 2 202496815 202496815 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 202496815 202496815 C T SNP TMEM237 ENST00000409883 human ensembl 74_37 -1 known missense c.512 p.G171D 0.913 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 112 0 0 75 43 36.4407 LAPTM4A 0 genome.wustl.edu 37 2 20251253 20251253 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 20251253 20251253 C T SNP LAPTM4A ENST00000175091 human ensembl 74_37 -1 known missense c.29 p.R10H 1.000 NULL pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 - no_errors LAPTM4A HGNC ENSG00000068697 25 0 0 7 6 46.1538 NBEAL1 0 genome.wustl.edu 37 2 204037566 204037566 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 204037566 204037566 A G SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.6226 p.M2076V 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 38 0 0 38 16 29.6296 PARD3B 0 genome.wustl.edu 37 2 205983664 205983664 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 205983664 205983664 C T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known nonsense c.700 p.R234* 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 80 0 0 37 16 30.1887 NDUFS1 0 genome.wustl.edu 37 2 207006782 207006782 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 207006782 207006782 C T SNP NDUFS1 ENST00000455934 human ensembl 74_37 -1 known missense c.1187 p.R396H 1.000 pfam_Mopterin_OxRdtase,tigrfam_NADH_UbQ_OxRdtase_Gsu pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 65 0 0 49 3 5.76923 GPR1 0 genome.wustl.edu 37 2 207041587 207041587 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 207041587 207041587 T C SNP GPR1 ENST00000407325 human ensembl 74_37 -1 known missense c.385 p.T129A 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 111 0 0 96 6 5.88235 ZDBF2 0 genome.wustl.edu 37 2 207171520 207171520 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 207171520 207171520 G A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.2268 p.P756 0.122 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 240 0 0 241 22 8.36502 GDF7 0 genome.wustl.edu 37 2 20871149 20871149 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 20871149 20871149 C T SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known silent c.1317 p.Y439 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 29 0 0 32 8 20 CRYGC 0 genome.wustl.edu 37 2 208994365 208994365 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 208994365 208994365 C T SNP CRYGC ENST00000282141 human ensembl 74_37 -1 known missense c.52 p.E18K 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 207 0 0 145 59 28.9216 IDH1 0 genome.wustl.edu 37 2 209116255 209116255 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 209116255 209116255 G A SNP IDH1 ENST00000345146 human ensembl 74_37 -1 known silent c.21 p.G7 0.003 pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH1 HGNC ENSG00000138413 57 0 0 55 3 5.17241 PIKFYVE 0 genome.wustl.edu 37 2 209138324 209138324 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 209138324 209138324 C T SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known silent c.189 p.G63 0.998 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 37 0 0 64 7 9.85915 PIKFYVE 0 genome.wustl.edu 37 2 209209854 209209854 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 209209854 209209854 G A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.5047 p.A1683T 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 46 0 0 50 5 9.09091 KANSL1L 0 genome.wustl.edu 37 2 210887888 210887888 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 210887888 210887888 G A SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known nonsense c.2749 p.R917* 1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 36 0 0 25 10 28.5714 MYL1 0 genome.wustl.edu 37 2 211179636 211179636 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 211179636 211179636 T G SNP MYL1 ENST00000352451 human ensembl 74_37 -1 known missense c.131 p.K44T 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL1 HGNC ENSG00000168530 178 0 0 153 26 14.5251 CPS1 0 genome.wustl.edu 37 2 211442163 211442163 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 211442163 211442163 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known silent c.418 p.L140 1.000 pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,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 110 0 0 101 37 26.8116 APOB 0 genome.wustl.edu 37 2 21228086 21228086 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 21228086 21228086 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.11654 p.A3885V 0.990 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 95 0 0 69 20 22.4719 APOB 0 genome.wustl.edu 37 2 21233839 21233839 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 21233839 21233839 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.5901 p.K1967N 0.928 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 55 0 0 65 13 16.6667 SMARCAL1 0 genome.wustl.edu 37 2 217285159 217285159 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 217285159 217285159 C T SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 0.198 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 63 0 0 54 9 14.2857 CXCR2 0 genome.wustl.edu 37 2 219000083 219000083 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 219000083 219000083 G A SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known missense c.559 p.V187I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 80 0 0 77 10 11.4943 TTLL4 0 genome.wustl.edu 37 2 219614016 219614016 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 219614016 219614016 C T SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known nonsense c.2641 p.R881* 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 71 0 0 78 20 20.4082 TTLL4 0 genome.wustl.edu 37 2 219617636 219617636 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 219617636 219617636 C T SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known nonsense c.3127 p.R1043* 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 141 0 0 84 22 20.7547 CYP27A1 0 genome.wustl.edu 37 2 219679346 219679346 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 219679346 219679346 C T SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known missense c.1342 p.R448C 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 62 0 0 57 3 5 ABCB6 0 genome.wustl.edu 37 2 220080867 220080867 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 220080867 220080867 G A SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.1006 p.R336W 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 12 0 0 14 4 22.2222 SPEG 0 genome.wustl.edu 37 2 220347929 220347929 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 220347929 220347929 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.5744 p.S1915N 0.968 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 18 0 0 15 3 16.6667 SPEG 0 genome.wustl.edu 37 2 220355154 220355154 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 220355154 220355154 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.8945 p.A2982V 0.600 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_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 73 0 0 45 19 29.6875 GMPPA 0 genome.wustl.edu 37 2 220370455 220370455 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 220370455 220370455 C T SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known missense c.872 p.P291L 1.000 NULL pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 68 0 0 45 16 26.2295 OBSL1 0 genome.wustl.edu 37 2 220432656 220432656 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 220432656 220432656 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1318 p.V440I 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 32 0 0 23 12 34.2857 KCNE4 0 genome.wustl.edu 37 2 223917920 223917920 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 223917920 223917920 C T SNP KCNE4 ENST00000281830 human ensembl 74_37 +1 known silent c.525 p.S175 1.000 NULL pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE4 HGNC ENSG00000152049 46 0 0 47 8 14.5455 CUL3 0 genome.wustl.edu 37 2 225367719 225367719 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 225367719 225367719 G A SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known missense c.1448 p.T483M 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 289 0 0 224 87 27.9743 IRS1 0 genome.wustl.edu 37 2 227663053 227663053 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 227663053 227663053 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.402 p.G134 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 65 0 0 45 5 10 SP110 0 genome.wustl.edu 37 2 231042313 231042313 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 231042313 231042313 C T SNP SP110 ENST00000258381 human ensembl 74_37 -1 known missense c.1531 p.A511T 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 279 0 0 215 99 31.5287 LOC101927958 0 genome.wustl.edu 37 2 239140958 239140958 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 239140958 239140958 C T SNP LOC101927958 ENST00000456601 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC096574.4 Clone_based_vega_gene ENSG00000225057 70 0 0 54 17 23.9437 ANKMY1 0 genome.wustl.edu 37 2 241463640 241463640 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 241463640 241463640 G A SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known silent c.1227 p.H409 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 66 0 0 38 17 30.9091 ANO7 0 genome.wustl.edu 37 2 242142788 242142788 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 242142788 242142788 G A SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.926 p.R309H 0.010 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 20 0 0 8 3 27.2727 MFSD2B 0 genome.wustl.edu 37 2 24244805 24244805 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 24244805 24244805 G A SNP MFSD2B ENST00000338315 human ensembl 74_37 +1 known missense c.859 p.V287M 0.998 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 158 0 0 142 13 8.3871 THAP4 0 genome.wustl.edu 37 2 242572343 242572343 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 242572343 242572343 G A SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known missense c.1229 p.S410L 0.995 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 28 0 0 18 8 30.7692 HADHA 0 genome.wustl.edu 37 2 26414471 26414471 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 26414471 26414471 C T SNP HADHA ENST00000380649 human ensembl 74_37 -1 known missense c.2027 p.R676H 1.000 pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit - no_errors HADHA HGNC ENSG00000084754 60 0 0 52 9 14.7541 OTOF 0 genome.wustl.edu 37 2 26684998 26684998 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 26684998 26684998 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.5244 p.D1748 0.996 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 377 0 0 232 82 26.1146 C2orf70 0 genome.wustl.edu 37 2 26802284 26802284 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 26802284 26802284 G A SNP C2orf70 ENST00000329615 human ensembl 74_37 +1 known missense c.584 p.C195Y 0.097 NULL pfam_UPF0573/UPF0605 - no_errors C2orf70 HGNC ENSG00000173557 84 0 0 62 28 31.1111 AGBL5 0 genome.wustl.edu 37 2 27276774 27276774 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 27276774 27276774 C T SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known missense c.398 p.T133M 0.919 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 89 0 0 76 6 7.31707 GTF3C2 0 genome.wustl.edu 37 2 27566379 27566379 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 27566379 27566379 C T SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known missense c.43 p.G15S 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 116 1 0.854701 106 10 8.62069 IFT172 0 genome.wustl.edu 37 2 27702965 27702965 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 27702965 27702965 C T SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.837 p.K279 0.990 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 62 0 0 50 3 5.66038 CCDC121 0 genome.wustl.edu 37 2 27850186 27850186 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 27850186 27850186 C T SNP CCDC121 ENST00000394775 human ensembl 74_37 -1 known missense c.967 p.D323N 0.001 NULL NULL - no_errors CCDC121 HGNC ENSG00000176714 49 0 0 56 6 9.67742 FOSL2 0 genome.wustl.edu 37 2 28627100 28627100 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 28627100 28627100 C A SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known missense c.229 p.P77T 0.998 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 170 0 0 146 11 7.00637 C2orf71 0 genome.wustl.edu 37 2 29296745 29296745 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 29296745 29296745 T C SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.383 p.D128G 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 111 0 0 115 11 8.73016 CRIM1 0 genome.wustl.edu 37 2 36771577 36771577 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 36771577 36771577 G T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.2682 p.E894D 0.205 NULL 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 84 0 0 75 8 9.63855 FEZ2 0 genome.wustl.edu 37 2 36818143 36818143 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 36818143 36818143 G A SNP FEZ2 ENST00000405912 human ensembl 74_37 -1 known missense c.278 p.A93V 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ2 HGNC ENSG00000171055 26 0 0 18 7 28 PRKD3 0 genome.wustl.edu 37 2 37483955 37483955 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 37483955 37483955 G A SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known missense c.2263 p.R755C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 128 1 0.775194 97 41 29.7101 DHX57 0 genome.wustl.edu 37 2 39070156 39070156 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 39070156 39070156 G A SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known missense c.2416 p.R806C 1.000 superfamily_P-loop_NTPase pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 64 0 0 35 12 25.5319 DHX57 0 genome.wustl.edu 37 2 39095428 39095428 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 39095428 39095428 G A SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known silent c.120 p.G40 0.920 NULL pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 97 0 0 74 15 16.8539 PPM1B 0 genome.wustl.edu 37 2 44428909 44428909 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 44428909 44428909 C T SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known missense c.571 p.R191C 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 111 0 0 72 24 25 PPM1B 0 genome.wustl.edu 37 2 44445156 44445156 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 44445156 44445156 A G SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known missense c.1015 p.M339V 1.000 pfam_PP2C_C,superfamily_PP2C_C pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 127 0 0 115 7 5.7377 SLC3A1 0 genome.wustl.edu 37 2 44528255 44528255 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 44528255 44528255 C T SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known silent c.1125 p.P375 0.973 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 53 0 0 38 13 25.4902 PPP1R21 0 genome.wustl.edu 37 2 48692092 48692092 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 48692092 48692092 C T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known silent c.711 p.N237 0.897 NULL pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 56 0 0 52 6 10.3448 NRXN1 0 genome.wustl.edu 37 2 50464107 50464107 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 50464107 50464107 A G SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.3342 p.P1114 1.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 68 0 0 56 16 22.2222 BCL11A 0 genome.wustl.edu 37 2 60688092 60688092 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 60688092 60688092 G A SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1955 p.T652M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 68 0 0 52 17 24.6377 TMEM18 0 genome.wustl.edu 37 2 675583 675583 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 675583 675583 G A SNP TMEM18 ENST00000281017 human ensembl 74_37 -1 known silent c.105 p.H35 0.079 NULL NULL - no_errors TMEM18 HGNC ENSG00000151353 67 0 0 47 23 32.8571 GKN2 0 genome.wustl.edu 37 2 69174390 69174390 + Splice_Site SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 69174390 69174390 C T SNP GKN2 ENST00000328895 human ensembl 74_37 -1 known splice_site c.205-1 e4-1 1.000 - - - no_errors GKN2 HGNC ENSG00000183607 88 0 0 47 21 30.8824 ATP6V1B1 0 genome.wustl.edu 37 2 71163176 71163176 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 71163176 71163176 G A SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known missense c.92 p.R31Q 0.997 NULL pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 119 0 0 71 31 30.3922 ATP6V1B1 0 genome.wustl.edu 37 2 71190412 71190412 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 71190412 71190412 C T SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known nonsense c.1030 p.Q344* 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 100 0 0 69 5 6.75676 ZNF638 0 genome.wustl.edu 37 2 71577059 71577059 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 71577059 71577059 A T SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.975 p.Q325H 0.994 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 175 0 0 155 18 10.4046 RNF144A 0 genome.wustl.edu 37 2 7164594 7164594 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 7164594 7164594 A G SNP RNF144A ENST00000320892 human ensembl 74_37 +1 known missense c.604 p.M202V 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF144A HGNC ENSG00000151692 78 0 0 52 26 33.3333 DYSF 0 genome.wustl.edu 37 2 71762412 71762412 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 71762412 71762412 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.1461 p.C487 1.000 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 116 0 0 85 32 27.3504 SFXN5 0 genome.wustl.edu 37 2 73198729 73198729 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 73198729 73198729 G A SNP SFXN5 ENST00000272433 human ensembl 74_37 -1 known silent c.711 p.L237 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN5 HGNC ENSG00000144040 48 0 0 40 17 29.8246 ALMS1 0 genome.wustl.edu 37 2 73747133 73747133 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 73747133 73747133 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.9768 p.R3256 0.002 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 187 0 0 166 15 8.28729 TPRKB 0 genome.wustl.edu 37 2 73957738 73957738 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 73957738 73957738 C A SNP TPRKB ENST00000272424 human ensembl 74_37 -1 known missense c.390 p.Q130H 0.997 pfam_CGI121/TPRKB pfam_CGI121/TPRKB - no_errors TPRKB HGNC ENSG00000144034 46 0 0 50 4 7.40741 STAMBP 0 genome.wustl.edu 37 2 74089388 74089388 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 74089388 74089388 C T SNP STAMBP ENST00000486458 human ensembl 74_37 +1 known rna NULL NULL 0.732 - - - no_errors STAMBP HGNC ENSG00000124356 61 0 0 37 15 28.8462 TET3 0 genome.wustl.edu 37 2 74317124 74317124 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 74317124 74317124 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.2584 p.R862W 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 149 0 0 130 15 10.3448 LOXL3 0 genome.wustl.edu 37 2 74763923 74763923 + Silent SNP G G C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 74763923 74763923 G C SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known silent c.825 p.G275 0.118 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 115 0 0 85 5 5.55556 SEMA4F 0 genome.wustl.edu 37 2 74906809 74906809 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 74906809 74906809 T C SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.1786 p.C596R 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 129 0 0 97 54 35.7616 LRRTM4 0 genome.wustl.edu 37 2 77746704 77746704 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 77746704 77746704 A G SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known silent c.294 p.I98 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 59 0 0 58 9 13.4328 TCF7L1 0 genome.wustl.edu 37 2 85532493 85532493 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 85532493 85532493 C T SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known missense c.956 p.P319L 0.996 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 53 0 0 50 5 9.09091 RNF103 0 genome.wustl.edu 37 2 86831536 86831536 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 86831536 86831536 A G SNP RNF103 ENST00000237455 human ensembl 74_37 -1 known silent c.1488 p.P496 0.948 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 69 0 0 77 9 10.4651 CD8A 0 genome.wustl.edu 37 2 87017603 87017603 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 87017603 87017603 A G SNP CD8A ENST00000538832 human ensembl 74_37 -1 known missense c.374 p.L125P 0.021 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD8A HGNC ENSG00000153563 128 0 0 101 11 9.82143 RPIA 0 genome.wustl.edu 37 2 89034099 89034099 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 89034099 89034099 G A SNP RPIA ENST00000283646 human ensembl 74_37 +1 known missense c.493 p.V165I 1.000 pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA - no_errors RPIA HGNC ENSG00000153574 110 0 0 84 9 9.67742 KIDINS220 0 genome.wustl.edu 37 2 8957838 8957838 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 8957838 8957838 C T SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known nonsense c.216 p.W72* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 116 0 0 120 8 6.25 ANKRD20A8P 0 genome.wustl.edu 37 2 95522779 95522779 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 95522779 95522779 C T SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 45 0 0 26 13 33.3333 ZNF2 0 genome.wustl.edu 37 2 95847304 95847304 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 95847304 95847304 C A SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known missense c.731 p.S244Y 0.096 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 ZNF2 HGNC ENSG00000163067 140 0 0 137 11 7.43243 INPP4A 0 genome.wustl.edu 37 2 99172076 99172076 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 99172076 99172076 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known silent c.1642 p.L548 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 57 0 0 38 15 28.3019 INPP4A 0 genome.wustl.edu 37 2 99204042 99204042 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 99204042 99204042 G A SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known missense c.2905 p.E969K 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 78 0 0 61 28 31.4607 JAG1 0 genome.wustl.edu 37 20 10632334 10632334 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 10632334 10632334 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.1015 p.A339T 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 35 0 0 27 8 22.8571 KIF16B 0 genome.wustl.edu 37 20 16360726 16360726 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 16360726 16360726 G A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.1921 p.R641C 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 76 0 0 68 31 31.3131 ZNF133 0 genome.wustl.edu 37 20 18295989 18295989 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 18295989 18295989 C T SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.503 p.A168V 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 ZNF133 HGNC ENSG00000125846 113 0 0 121 11 8.33333 SLC24A3 0 genome.wustl.edu 37 20 19496186 19496186 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 19496186 19496186 C T SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known missense c.326 p.A109V 0.569 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 156 1 0.636943 144 9 5.88235 TGM3 0 genome.wustl.edu 37 20 2321186 2321186 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 2321186 2321186 C A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.2041 p.P681T 0.993 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 87 0 0 89 5 5.31915 TGM6 0 genome.wustl.edu 37 20 2378638 2378638 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 2378638 2378638 C T SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known silent c.618 p.T206 0.030 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 77 0 0 73 16 17.9775 GNRH2 0 genome.wustl.edu 37 20 3025167 3025167 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 3025167 3025167 G A SNP GNRH2 ENST00000245983 human ensembl 74_37 +1 known missense c.107 p.R36Q 0.232 NULL pfam_GnRH - no_errors GNRH2 HGNC ENSG00000125787 48 0 0 26 4 13.3333 FASTKD5 0 genome.wustl.edu 37 20 3128087 3128087 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 3128087 3128087 A G SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known silent c.1630 p.L544 0.998 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 55 0 0 46 3 6.12245 DNMT3B 0 genome.wustl.edu 37 20 31387092 31387092 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 31387092 31387092 C T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.1717 p.R573W 1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 42 0 0 31 8 20.5128 ZNF341 0 genome.wustl.edu 37 20 32341075 32341075 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 32341075 32341075 C A SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.587 p.P196H 0.979 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 16 0 0 13 5 27.7778 CEP250 0 genome.wustl.edu 37 20 34055233 34055233 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 34055233 34055233 C A SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.704 p.S235Y 0.987 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 139 0 0 127 15 10.5634 RBM39 0 genome.wustl.edu 37 20 34312604 34312604 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 34312604 34312604 C A SNP RBM39 ENST00000253363 human ensembl 74_37 -1 known missense c.575 p.R192L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_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 108 0 0 101 6 5.60748 MROH8 0 genome.wustl.edu 37 20 35749348 35749348 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 35749348 35749348 G T SNP MROH8 ENST00000400441 human ensembl 74_37 -1 known missense c.2068 p.L690M 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 51 0 0 42 6 12.5 ADAM33 0 genome.wustl.edu 37 20 3653476 3653476 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 3653476 3653476 G A SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known silent c.1203 p.G401 0.846 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 16 0 0 10 9 47.3684 SIGLEC1 0 genome.wustl.edu 37 20 3669223 3669223 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 3669223 3669223 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.5114 p.A1705V 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 11 0 0 13 3 18.75 HSPA12B 0 genome.wustl.edu 37 20 3729009 3729009 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 3729009 3729009 G A SNP HSPA12B ENST00000254963 human ensembl 74_37 +1 known missense c.821 p.R274H 1.000 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 13 0 0 13 5 27.7778 CDC25B 0 genome.wustl.edu 37 20 3782662 3782662 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 3782662 3782662 G A SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known missense c.1013 p.R338Q 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 16 0 0 5 3 37.5 PLCG1 0 genome.wustl.edu 37 20 39791298 39791298 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 39791298 39791298 G A SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.614 p.S205N 0.994 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 71 0 0 51 4 7.27273 CHD6 0 genome.wustl.edu 37 20 40081533 40081533 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 40081533 40081533 T C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.3170 p.Y1057C 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 36 0 0 54 4 6.89655 TTPAL 0 genome.wustl.edu 37 20 43115284 43115284 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 43115284 43115284 C T SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known nonsense c.688 p.R230* 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom 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 TTPAL HGNC ENSG00000124120 65 0 0 75 4 5.06329 SERINC3 0 genome.wustl.edu 37 20 43141456 43141456 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 43141456 43141456 C T SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known silent c.381 p.A127 0.998 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 47 0 0 34 7 17.0732 PKIG 0 genome.wustl.edu 37 20 43243338 43243338 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 43243338 43243338 C T SNP PKIG ENST00000349959 human ensembl 74_37 +1 known silent c.141 p.L47 0.138 pfam_cAMP_dep_PKI pfam_cAMP_dep_PKI - no_errors PKIG HGNC ENSG00000168734 56 0 0 32 15 31.9149 ADA 0 genome.wustl.edu 37 20 43249692 43249692 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 43249692 43249692 G A SNP ADA ENST00000372874 human ensembl 74_37 -1 known silent c.942 p.D314 0.885 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 140 0 0 108 10 8.47458 WISP2 0 genome.wustl.edu 37 20 43353454 43353454 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 43353454 43353454 G A SNP WISP2 ENST00000190983 human ensembl 74_37 +1 known missense c.353 p.S118N 0.959 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP2 HGNC ENSG00000064205 26 0 0 24 3 11.1111 MATN4 0 genome.wustl.edu 37 20 43926908 43926908 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 43926908 43926908 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.1451 p.R484Q 0.999 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 86 0 0 71 6 7.79221 SLC9A8 0 genome.wustl.edu 37 20 48431697 48431697 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 48431697 48431697 T C SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known missense c.179 p.M60T 1.000 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 149 0 0 109 12 9.91736 TMEM230 0 genome.wustl.edu 37 20 5090082 5090082 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 5090082 5090082 G A SNP TMEM230 ENST00000342308 human ensembl 74_37 -1 known missense c.184 p.R62C 0.010 NULL pfam_DUF872_TM - no_errors TMEM230 HGNC ENSG00000089063 30 0 0 34 4 10.5263 CYP24A1 0 genome.wustl.edu 37 20 52789528 52789528 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 52789528 52789528 G A SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known silent c.369 p.S123 0.993 pfam_Cyt_P450,superfamily_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 94 0 0 86 9 9.47368 ZBP1 0 genome.wustl.edu 37 20 56191408 56191408 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 56191408 56191408 G A SNP ZBP1 ENST00000343535 human ensembl 74_37 -1 known nonsense c.151 p.R51* 0.726 pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 156 0 0 108 10 8.47458 RAB22A 0 genome.wustl.edu 37 20 56918855 56918855 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 56918855 56918855 A G SNP RAB22A ENST00000244040 human ensembl 74_37 +1 known silent c.198 p.R66 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB22A HGNC ENSG00000124209 26 0 0 19 4 17.3913 LAMA5 0 genome.wustl.edu 37 20 60902996 60902996 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 60902996 60902996 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.4723 p.R1575C 0.985 smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 94 0 0 58 20 25.641 MIR124-3 0 genome.wustl.edu 37 20 61809912 61809912 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 61809912 61809912 G A SNP MIR124-3 ENST00000384866 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-3 HGNC ENSG00000207598 46 0 0 46 6 11.5385 ARFGAP1 0 genome.wustl.edu 37 20 61908657 61908657 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 61908657 61908657 G A SNP ARFGAP1 ENST00000353546 human ensembl 74_37 +1 known missense c.443 p.R148Q 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 26 0 0 15 8 34.7826 COL20A1 0 genome.wustl.edu 37 20 61938964 61938964 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 61938964 61938964 G A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.619 p.A207T 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 76 0 0 56 4 6.66667 COL20A1 0 genome.wustl.edu 37 20 61944569 61944569 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 61944569 61944569 G A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.2177 p.R726H 0.853 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 64 0 0 37 10 21.2766 KCNQ2 0 genome.wustl.edu 37 20 62046276 62046276 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 62046276 62046276 G A SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.1421 p.A474V 0.562 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 156 0 0 83 40 32.5203 HELZ2 0 genome.wustl.edu 37 20 62198376 62198376 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 62198376 62198376 G T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.2335 p.P779T 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 106 0 0 73 31 29.8077 ZBTB46 0 genome.wustl.edu 37 20 62421541 62421541 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 62421541 62421541 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.570 p.H190 0.283 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 17 0 0 17 13 43.3333 NPBWR2 0 genome.wustl.edu 37 20 62737451 62737451 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 62737451 62737451 C T SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.734 p.R245H 0.813 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt 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 19 0 0 9 4 30.7692 BMP2 0 genome.wustl.edu 37 20 6759451 6759451 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 6759451 6759451 C T SNP BMP2 ENST00000378827 human ensembl 74_37 +1 known silent c.906 p.Y302 0.956 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 80 0 0 47 30 38.961 HAO1 0 genome.wustl.edu 37 20 7886818 7886818 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 7886818 7886818 G A SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known missense c.704 p.A235V 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 169 0 0 117 48 29.0909 ANKRD30BP2 0 genome.wustl.edu 37 21 14418577 14418577 + RNA SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 14418577 14418577 T G SNP ANKRD30BP2 ENST00000507941 human ensembl 74_37 +1 known rna NULL NULL 0.057 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 78 0 0 85 9 9.57447 TMPRSS15 0 genome.wustl.edu 37 21 19653413 19653413 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 19653413 19653413 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2612 p.R871Q 0.679 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 172 0 0 167 17 9.23913 ADAMTS1 0 genome.wustl.edu 37 21 28210023 28210023 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 28210023 28210023 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.2779 p.G927S 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS1 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 78 0 0 92 6 6.12245 LTN1 0 genome.wustl.edu 37 21 30359239 30359239 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 30359239 30359239 C T SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.197 p.R66Q 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 45 0 0 36 14 28 KRTAP24-1 0 genome.wustl.edu 37 21 31654858 31654858 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 31654858 31654858 G A SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known silent c.393 p.C131 0.060 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 123 0 0 83 7 7.77778 TIAM1 0 genome.wustl.edu 37 21 32639198 32639198 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 32639198 32639198 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.91 p.R31C 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 36 0 0 32 4 11.1111 PSMG1 0 genome.wustl.edu 37 21 40550511 40550511 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 40550511 40550511 G A SNP PSMG1 ENST00000331573 human ensembl 74_37 -1 known silent c.519 p.T173 0.469 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 62 0 0 84 7 7.69231 DSCAM 0 genome.wustl.edu 37 21 41414322 41414322 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 41414322 41414322 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5662 p.A1888T 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 95 0 0 51 12 19.0476 DSCAM 0 genome.wustl.edu 37 21 41496241 41496241 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 41496241 41496241 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.3577 p.A1193T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 89 0 0 55 13 19.1176 PRDM15 0 genome.wustl.edu 37 21 43256665 43256665 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 43256665 43256665 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.2193 p.L731 0.766 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 144 1 0.689655 119 12 9.16031 C2CD2 0 genome.wustl.edu 37 21 43327823 43327823 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 43327823 43327823 C T SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known silent c.1089 p.T363 0.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 20 0 0 16 7 30.4348 TRAPPC10 0 genome.wustl.edu 37 21 45478985 45478985 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 45478985 45478985 A G SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.680 p.E227G 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 64 0 0 53 8 13.1148 ICOSLG 0 genome.wustl.edu 37 21 45655435 45655435 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 45655435 45655435 G A SNP ICOSLG ENST00000344330 human ensembl 74_37 -1 known silent c.417 p.S139 1.000 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors ICOSLG HGNC ENSG00000160223 134 0 0 83 34 29.0598 DNMT3L 0 genome.wustl.edu 37 21 45679416 45679416 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 45679416 45679416 G A SNP DNMT3L ENST00000270172 human ensembl 74_37 -1 known missense c.248 p.A83V 0.006 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 91 0 0 84 8 8.69565 TSPEAR 0 genome.wustl.edu 37 21 45947381 45947381 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 45947381 45947381 C T SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.943 p.V315M 1.000 pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 87 0 0 60 20 25 COL18A1 0 genome.wustl.edu 37 21 46895395 46895395 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 46895395 46895395 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.1989 p.S663 0.109 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 13 0 0 9 3 25 PCNT 0 genome.wustl.edu 37 21 47786513 47786513 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 47786513 47786513 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.2624 p.R875H 0.816 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 54 0 0 43 18 29.5082 PCNT 0 genome.wustl.edu 37 21 47801609 47801609 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 47801609 47801609 G T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.3166 p.G1056C 0.259 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 100 0 0 92 29 23.9669 CECR2 0 genome.wustl.edu 37 22 18021966 18021966 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 18021966 18021966 G T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.2068 p.G690W 0.791 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 18 0 0 6 7 53.8462 DGCR2 0 genome.wustl.edu 37 22 19055688 19055688 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 19055688 19055688 G A SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.253 p.R85W 0.331 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 35 0 0 20 10 33.3333 TBX1 0 genome.wustl.edu 37 22 19766891 19766891 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 19766891 19766891 C T SNP TBX1 ENST00000329705 human ensembl 74_37 +1 known silent c.1158 p.G386 0.001 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 57 0 0 57 7 10.9375 DGCR8 0 genome.wustl.edu 37 22 20094192 20094192 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 20094192 20094192 C A SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.1967 p.A656E 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 85 0 0 55 7 11.2903 LZTR1 0 genome.wustl.edu 37 22 21348040 21348040 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 21348040 21348040 T C SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known silent c.1350 p.G450 0.404 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 16 0 0 21 6 22.2222 SLC7A4 0 genome.wustl.edu 37 22 21385717 21385717 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 21385717 21385717 C T SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.385 p.G129S 0.998 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 41 0 0 45 4 8.16327 ZDHHC8P1 0 genome.wustl.edu 37 22 23741995 23741995 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 23741995 23741995 G A SNP ZDHHC8P1 ENST00000255890 human ensembl 74_37 -1 known rna NULL NULL 0.900 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 11 0 0 6 4 40 CRYBB3 0 genome.wustl.edu 37 22 25597378 25597378 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 25597378 25597378 C T SNP CRYBB3 ENST00000215855 human ensembl 74_37 +1 known silent c.15 p.H5 0.233 NULL pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB3 HGNC ENSG00000100053 151 0 0 129 7 5.14706 ADRBK2 0 genome.wustl.edu 37 22 26118325 26118325 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 26118325 26118325 C T SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known missense c.1975 p.R659C 0.994 NULL 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 111 0 0 106 8 7.01754 OSM 0 genome.wustl.edu 37 22 30660414 30660414 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 30660414 30660414 G A SNP OSM ENST00000215781 human ensembl 74_37 -1 known missense c.217 p.H73Y 0.000 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin - no_errors OSM HGNC ENSG00000099985 36 0 0 28 6 17.6471 OSBP2 0 genome.wustl.edu 37 22 31302243 31302243 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 31302243 31302243 G A SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known missense c.2668 p.G890R 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 117 0 0 116 7 5.69106 PLA2G3 0 genome.wustl.edu 37 22 31533732 31533732 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 31533732 31533732 C A SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known missense c.1030 p.G344C 0.026 superfamily_PLipase_A2_dom pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 136 0 0 104 45 30.2013 PISD 0 genome.wustl.edu 37 22 32017778 32017778 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 32017778 32017778 C T SNP PISD ENST00000439502 human ensembl 74_37 -1 known missense c.415 p.V139I 0.968 NULL pfam_PS_Dcarbxylase,tigrfam_PS_decarb - no_errors PISD HGNC ENSG00000241878 83 0 0 67 5 6.94444 TOM1 0 genome.wustl.edu 37 22 35719087 35719087 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 35719087 35719087 G A SNP TOM1 ENST00000411850 human ensembl 74_37 +1 known missense c.283 p.V95M 0.995 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 68 0 0 52 8 13.3333 MYH9 0 genome.wustl.edu 37 22 36680552 36680552 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 36680552 36680552 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.5489 p.R1830H 1.000 pfam_Myosin_tail,superfamily_Regulat_G_prot_signal_superfam 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 43 0 0 56 6 9.67742 MYH9 0 genome.wustl.edu 37 22 36684927 36684927 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 36684927 36684927 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4616 p.T1539M 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_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 98 0 0 88 6 6.38298 MYH9 0 genome.wustl.edu 37 22 36689446 36689446 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 36689446 36689446 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4024 p.R1342W 0.467 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_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 117 0 0 69 30 30.303 CSF2RB 0 genome.wustl.edu 37 22 37330015 37330015 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 37330015 37330015 C T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.1312 p.R438C 0.000 pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 41 0 0 35 13 27.0833 SH3BP1 0 genome.wustl.edu 37 22 38040646 38040646 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 38040646 38040646 C T SNP SH3BP1 ENST00000357436 human ensembl 74_37 +1 known silent c.621 p.D207 0.968 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 377 1 0.26455 285 25 8.06452 KCNJ4 0 genome.wustl.edu 37 22 38824122 38824122 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 38824122 38824122 G A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.16 p.R6C 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 241 0 0 186 79 29.8113 GTPBP1 0 genome.wustl.edu 37 22 39112791 39112791 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 39112791 39112791 G A SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known missense c.620 p.R207H 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 114 0 0 97 10 9.34579 MIEF1 0 genome.wustl.edu 37 22 39907381 39907381 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 39907381 39907381 C A SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known silent c.82 p.R28 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 21 0 0 22 2 8.33333 MCHR1 0 genome.wustl.edu 37 22 41077107 41077107 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 41077107 41077107 C T SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known silent c.444 p.D148 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 99 0 0 66 12 15.3846 RANGAP1 0 genome.wustl.edu 37 22 41660826 41660826 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 41660826 41660826 T C SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.322 p.I108V 1.000 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 112 0 0 97 13 11.8182 MEI1 0 genome.wustl.edu 37 22 42190432 42190432 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 42190432 42190432 C A SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known missense c.3485 p.A1162D 0.990 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 201 0 0 177 17 8.76289 NAGA 0 genome.wustl.edu 37 22 42463259 42463259 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 42463259 42463259 C T SNP NAGA ENST00000396398 human ensembl 74_37 -1 known silent c.360 p.A120 0.030 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors NAGA HGNC ENSG00000198951 174 0 0 144 12 7.69231 SERHL 0 genome.wustl.edu 37 22 42908278 42908278 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 42908278 42908278 C T SNP SERHL ENST00000359906 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SERHL HGNC ENSG00000172250 71 0 0 49 9 15.5172 SULT4A1 0 genome.wustl.edu 37 22 44223513 44223513 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 44223513 44223513 G A SNP SULT4A1 ENST00000249130 human ensembl 74_37 -1 known silent c.750 p.C250 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT4A1 HGNC ENSG00000130540 42 0 0 27 4 12.9032 PARVB 0 genome.wustl.edu 37 22 44495947 44495947 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 44495947 44495947 C T SNP PARVB ENST00000406477 human ensembl 74_37 +1 known missense c.316 p.R106C 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 70 0 0 76 4 5 KIAA1644 0 genome.wustl.edu 37 22 44681394 44681394 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 44681394 44681394 C T SNP KIAA1644 ENST00000381176 human ensembl 74_37 -1 putative silent c.513 p.P171 0.266 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 102 0 0 62 27 30.3371 NUP50 0 genome.wustl.edu 37 22 45564091 45564091 + Silent SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 45564091 45564091 A C SNP NUP50 ENST00000347635 human ensembl 74_37 +1 known silent c.33 p.T11 0.981 pfam_NUP2/50/61 pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors NUP50 HGNC ENSG00000093000 71 0 0 54 5 8.47458 FAM118A 0 genome.wustl.edu 37 22 45726600 45726600 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 45726600 45726600 C T SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known silent c.639 p.D213 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 37 0 0 34 8 19.0476 CELSR1 0 genome.wustl.edu 37 22 46859655 46859655 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 46859655 46859655 A T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.4132 p.C1378S 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 12 0 0 12 6 33.3333 BRD1 0 genome.wustl.edu 37 22 50217616 50217616 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 50217616 50217616 A C SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.350 p.L117R 0.920 pfam_Enhancer_polycomb-like_N 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 100 1 0.990099 67 35 34.3137 TYMP 0 genome.wustl.edu 37 22 50966139 50966139 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 50966139 50966139 A G SNP TYMP ENST00000252029 human ensembl 74_37 -1 known missense c.524 p.V175A 0.002 pfam_Glycosyl_Trfase_fam3,superfamily_Glycosyl_Trfase_fam3,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 117 0 0 87 10 10.3093 KLHDC7B 0 genome.wustl.edu 37 22 50988017 50988017 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 50988017 50988017 C T SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known silent c.1422 p.D474 0.051 smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 107 0 0 102 9 8.10811 ZBTB11 0 genome.wustl.edu 37 3 101370285 101370285 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 101370285 101370285 G A SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.2887 p.H963Y 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 133 0 0 123 15 10.8696 ATP2B2 0 genome.wustl.edu 37 3 10444026 10444026 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 10444026 10444026 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.404 p.A135V 0.954 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 138 0 0 95 41 30.1471 C3orf17 0 genome.wustl.edu 37 3 112724472 112724472 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 112724472 112724472 T C SNP C3orf17 ENST00000314400 human ensembl 74_37 -1 known missense c.1615 p.T539A 0.006 NULL NULL - no_errors C3orf17 HGNC ENSG00000163608 89 0 0 87 7 7.44681 NAA50 0 genome.wustl.edu 37 3 113440776 113440776 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 113440776 113440776 T G SNP NAA50 ENST00000240922 human ensembl 74_37 -1 known missense c.341 p.Q114P 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA50 HGNC ENSG00000121579 39 0 0 21 8 27.5862 ZBTB20 0 genome.wustl.edu 37 3 114069855 114069855 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 114069855 114069855 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1070 p.T357M 0.998 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 61 0 0 32 22 40.7407 NR1I2 0 genome.wustl.edu 37 3 119528957 119528957 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 119528957 119528957 G A SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.364 p.A122T 0.007 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 45 0 0 21 11 34.375 CASR 0 genome.wustl.edu 37 3 121976124 121976124 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 121976124 121976124 T C SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.382 p.F128L 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,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 88 0 0 90 9 9.09091 KALRN 0 genome.wustl.edu 37 3 124053260 124053260 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 124053260 124053260 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.1559 p.R520Q 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 61 0 0 47 11 18.9655 PLXNA1 0 genome.wustl.edu 37 3 126723974 126723974 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 126723974 126723974 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.1785 p.G595 0.214 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 32 0 0 25 10 28.5714 HMCES 0 genome.wustl.edu 37 3 129007805 129007805 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 129007805 129007805 C T SNP HMCES ENST00000383463 human ensembl 74_37 +1 known missense c.292 p.R98C 1.000 pfam_DUF159,superfamily_DUF159 pfam_DUF159,superfamily_DUF159 - no_errors HMCES HGNC ENSG00000183624 72 0 0 63 4 5.97015 ATP2C1 0 genome.wustl.edu 37 3 130735042 130735042 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 130735042 130735042 C A SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.2873 p.P958H 0.961 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 86 0 0 71 6 7.79221 MRPL3 0 genome.wustl.edu 37 3 131208833 131208833 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 131208833 131208833 A T SNP MRPL3 ENST00000264995 human ensembl 74_37 -1 known missense c.560 p.I187N 1.000 pfam_Ribosomal_L3,superfamily_Transl_B-barrel,tigrfam_Ribosomal_L3_bac/org-type pfam_Ribosomal_L3,superfamily_Transl_B-barrel,tigrfam_Ribosomal_L3_bac/org-type - no_errors MRPL3 HGNC ENSG00000114686 31 0 0 23 12 34.2857 BFSP2 0 genome.wustl.edu 37 3 133169277 133169277 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 133169277 133169277 G A SNP BFSP2 ENST00000302334 human ensembl 74_37 +1 known missense c.860 p.R287Q 0.998 pfam_IF pfam_IF,prints_Keratin_I - no_errors BFSP2 HGNC ENSG00000170819 87 0 0 61 19 23.75 COPB2 0 genome.wustl.edu 37 3 139085492 139085492 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 139085492 139085492 C A SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.1802 p.R601M 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 64 0 0 62 7 10.1449 TFDP2 0 genome.wustl.edu 37 3 141688962 141688962 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 141688962 141688962 C G SNP TFDP2 ENST00000489671 human ensembl 74_37 -1 known missense c.685 p.E229Q 1.000 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP2 HGNC ENSG00000114126 99 0 0 90 7 7.21649 P2RY14 0 genome.wustl.edu 37 3 150931878 150931878 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 150931878 150931878 A G SNP P2RY14 ENST00000309170 human ensembl 74_37 -1 known missense c.227 p.F76S 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY14 HGNC ENSG00000174944 41 0 0 36 17 32.0755 MED12L 0 genome.wustl.edu 37 3 151134107 151134107 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 151134107 151134107 A G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.6200 p.Q2067R 0.999 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 38 0 0 36 4 10 ZFYVE20 0 genome.wustl.edu 37 3 15116196 15116196 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 15116196 15116196 C T SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.1448 p.R483H 0.998 pfam_Rbsn pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 110 0 0 83 23 21.6981 DHX36 0 genome.wustl.edu 37 3 154017707 154017707 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 154017707 154017707 G A SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.1469 p.A490V 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 93 0 0 95 8 7.76699 DHX36 0 genome.wustl.edu 37 3 154032899 154032899 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 154032899 154032899 A G SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.539 p.L180S 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 DHX36 HGNC ENSG00000174953 26 0 0 31 4 11.4286 PLCH1 0 genome.wustl.edu 37 3 155203168 155203168 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 155203168 155203168 A T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.2975 p.I992N 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 60 0 0 55 7 11.2903 C3orf33 0 genome.wustl.edu 37 3 155481323 155481323 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 155481323 155481323 A C SNP C3orf33 ENST00000340171 human ensembl 74_37 -1 known missense c.868 p.F290V 0.772 NULL superfamily_Staphylococal_nuclease_OB-fold - no_errors C3orf33 HGNC ENSG00000174928 12 0 0 14 6 30 VEPH1 0 genome.wustl.edu 37 3 157188202 157188202 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 157188202 157188202 G T SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known silent c.255 p.L85 0.999 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 93 0 0 111 6 5.12821 GFM1 0 genome.wustl.edu 37 3 158369926 158369926 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 158369926 158369926 C T SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known missense c.731 p.A244V 0.998 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 123 0 0 93 14 13.0841 SLC2A2 0 genome.wustl.edu 37 3 170725002 170725002 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 170725002 170725002 C T SNP SLC2A2 ENST00000314251 human ensembl 74_37 -1 known missense c.547 p.A183T 0.010 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC ENSG00000163581 49 0 0 49 13 20.9677 FNDC3B 0 genome.wustl.edu 37 3 171965347 171965347 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 171965347 171965347 C T SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.289 p.R97C 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 141 0 0 163 16 8.93855 CCDC39 0 genome.wustl.edu 37 3 180334112 180334112 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 180334112 180334112 G A SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.2626 p.R876C 0.009 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 43 0 0 46 14 23.3333 EIF2B5 0 genome.wustl.edu 37 3 183857942 183857942 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 183857942 183857942 G T SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known missense c.840 p.E280D 1.000 superfamily_Trimer_LpxA-like pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 40 0 0 33 4 10.8108 MASP1 0 genome.wustl.edu 37 3 186954203 186954203 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 186954203 186954203 G T SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1456 p.L486M 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,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 66 0 0 53 31 36.9048 MASP1 0 genome.wustl.edu 37 3 186978565 186978565 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 186978565 186978565 C T SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.511 p.G171S 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom 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 66 0 0 87 7 7.44681 RTP4 0 genome.wustl.edu 37 3 187088755 187088755 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 187088755 187088755 T C SNP RTP4 ENST00000259030 human ensembl 74_37 +1 known missense c.335 p.M112T 0.000 NULL NULL - no_errors RTP4 HGNC ENSG00000136514 34 0 0 24 2 7.69231 ATP13A4 0 genome.wustl.edu 37 3 193158373 193158373 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 193158373 193158373 A T SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.2493 p.S831R 0.996 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 68 0 0 61 8 11.5942 MUC4 0 genome.wustl.edu 37 3 195486030 195486030 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 195486030 195486030 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.14951 p.T4984M 0.000 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 486 0 0 409 50 10.8932 PAK2 0 genome.wustl.edu 37 3 196509660 196509660 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 196509660 196509660 A G SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known missense c.143 p.K48R 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 175 0 0 144 14 8.86076 MFI2 0 genome.wustl.edu 37 3 196735572 196735572 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 196735572 196735572 T C SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.1706 p.D569G 0.999 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 57 0 0 48 5 9.43396 CNTN4 0 genome.wustl.edu 37 3 3067853 3067853 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 3067853 3067853 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known silent c.1554 p.P518 0.028 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 85 0 0 52 12 18.75 SCN5A 0 genome.wustl.edu 37 3 38595862 38595862 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 38595862 38595862 T C SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4721 p.E1574G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 106 0 0 91 16 14.9533 LRRN1 0 genome.wustl.edu 37 3 3887325 3887325 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 3887325 3887325 C T SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 41 0 0 29 13 30.9524 GORASP1 0 genome.wustl.edu 37 3 39142008 39142008 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 39142008 39142008 G A SNP GORASP1 ENST00000489587 human ensembl 74_37 -1 putative rna NULL NULL 0.348 - - - no_errors GORASP1 HGNC ENSG00000114745 15 0 0 13 4 23.5294 POMGNT2 0 genome.wustl.edu 37 3 43121611 43121611 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 43121611 43121611 C T SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known missense c.1313 p.R438Q 1.000 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 30 0 0 21 11 34.375 SUMF1 0 genome.wustl.edu 37 3 4418024 4418024 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 4418024 4418024 A G SNP SUMF1 ENST00000448413 human ensembl 74_37 -1 known missense c.1004 p.M335T 1.000 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC ENSG00000144455 237 0 0 194 16 7.61905 KLHL18 0 genome.wustl.edu 37 3 47324459 47324459 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 47324459 47324459 G T SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known missense c.4 p.V2L 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 28 0 0 18 2 10 MAP4 0 genome.wustl.edu 37 3 47958085 47958085 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 47958085 47958085 A G SNP MAP4 ENST00000360240 human ensembl 74_37 -1 known missense c.1232 p.V411A 0.000 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 180 0 0 184 19 9.35961 COL7A1 0 genome.wustl.edu 37 3 48629343 48629343 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 48629343 48629343 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.1345 p.R449W 0.985 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 87 0 0 68 31 31.3131 WDR6 0 genome.wustl.edu 37 3 49050093 49050093 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 49050093 49050093 G A SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.1216 p.V406I 0.953 superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 54 0 0 32 16 33.3333 WDR6 0 genome.wustl.edu 37 3 49050138 49050138 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 49050138 49050138 C A SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.1261 p.Q421K 1.000 superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 49 0 0 39 4 9.30233 USP19 0 genome.wustl.edu 37 3 49153200 49153200 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 49153200 49153200 G T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.1340 p.P447H 0.201 NULL 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 85 0 0 68 9 11.6883 LAMB2 0 genome.wustl.edu 37 3 49159273 49159273 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 49159273 49159273 A G SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.4944 p.G1648 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 63 0 0 53 4 7.01754 GMPPB 0 genome.wustl.edu 37 3 49759315 49759315 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 49759315 49759315 A G SNP GMPPB ENST00000308375 human ensembl 74_37 -1 known missense c.1034 p.V345A 1.000 NULL pfam_NTP_transferase,pfam_Hexapep_transf - no_errors GMPPB HGNC ENSG00000173540 76 0 0 66 7 9.58904 TRAIP 0 genome.wustl.edu 37 3 49879890 49879890 + Nonsense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 49879890 49879890 C A SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known nonsense c.499 p.E167* 1.000 superfamily_Prefoldin pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 107 0 0 96 6 5.88235 CAMKV 0 genome.wustl.edu 37 3 49898891 49898891 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 49898891 49898891 A G SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.422 p.I141T 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 CAMKV HGNC ENSG00000164076 53 0 0 54 4 6.89655 NPRL2 0 genome.wustl.edu 37 3 50385556 50385556 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 50385556 50385556 G A SNP NPRL2 ENST00000232501 human ensembl 74_37 -1 known missense c.931 p.R311W 0.994 pfam_NPR2 pfam_NPR2 - no_errors NPRL2 HGNC ENSG00000114388 104 0 0 75 21 21.875 C3orf18 0 genome.wustl.edu 37 3 50603087 50603087 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 50603087 50603087 C T SNP C3orf18 ENST00000357203 human ensembl 74_37 -1 known missense c.44 p.R15H 0.965 NULL NULL - no_errors C3orf18 HGNC ENSG00000088543 49 0 0 31 13 29.5455 TLR9 0 genome.wustl.edu 37 3 52257056 52257056 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 52257056 52257056 G A SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.1348 p.R450C 0.836 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 142 0 0 120 24 16.6667 NT5DC2 0 genome.wustl.edu 37 3 52568610 52568610 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 52568610 52568610 C T SNP NT5DC2 ENST00000307076 human ensembl 74_37 -1 known silent c.60 p.T20 0.000 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 NT5DC2 HGNC ENSG00000168268 163 0 0 109 39 26.3514 ERC2 0 genome.wustl.edu 37 3 55922525 55922525 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 55922525 55922525 G T SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.2456 p.T819N 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 147 0 0 128 13 9.21986 PDE12 0 genome.wustl.edu 37 3 57543266 57543266 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 57543266 57543266 G A SNP PDE12 ENST00000311180 human ensembl 74_37 +1 known missense c.1160 p.R387Q 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 39 0 0 34 8 19.0476 SLMAP 0 genome.wustl.edu 37 3 57743556 57743556 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 57743556 57743556 T G SNP SLMAP ENST00000428312 human ensembl 74_37 +1 known missense c.178 p.F60V 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 46 0 0 43 4 8.51064 PRICKLE2 0 genome.wustl.edu 37 3 64138947 64138947 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 64138947 64138947 C T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.698 p.R233H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 184 0 0 138 13 8.60927 SHQ1 0 genome.wustl.edu 37 3 72799562 72799562 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 72799562 72799562 C A SNP SHQ1 ENST00000325599 human ensembl 74_37 -1 known missense c.1607 p.G536V 0.033 NULL pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors SHQ1 HGNC ENSG00000144736 83 0 0 65 22 25.2874 PDZRN3 0 genome.wustl.edu 37 3 73453461 73453461 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 73453461 73453461 A G SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.1004 p.V335A 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 50 0 0 56 6 9.67742 ROBO2 0 genome.wustl.edu 37 3 77651597 77651597 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 77651597 77651597 A T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.3091 p.M1031L 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 130 0 0 117 7 5.64516 LMCD1 0 genome.wustl.edu 37 3 8590348 8590348 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 8590348 8590348 T C SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known missense c.482 p.L161P 1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 197 0 0 147 14 8.69565 SETD5 0 genome.wustl.edu 37 3 9517751 9517751 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 9517751 9517751 C T SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known silent c.4305 p.V1435 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 34 0 0 10 7 41.1765 PRRT3 0 genome.wustl.edu 37 3 9990353 9990353 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 9990353 9990353 C A SNP PRRT3 ENST00000411976 human ensembl 74_37 -1 novel silent c.1260 p.G420 0.001 NULL NULL - no_errors PRRT3 HGNC ENSG00000163704 102 0 0 89 12 11.8812 ADH5 0 genome.wustl.edu 37 4 100009879 100009879 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 100009879 100009879 G A SNP ADH5 ENST00000508146 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADH5 HGNC ENSG00000197894 124 0 0 82 12 12.766 ADH4 0 genome.wustl.edu 37 4 100065369 100065369 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 100065369 100065369 C A SNP ADH4 ENST00000265512 human ensembl 74_37 -1 known missense c.5 p.G2V 0.479 superfamily_GroES-like pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ADH4 HGNC ENSG00000198099 85 0 0 77 7 8.33333 PPP3CA 0 genome.wustl.edu 37 4 101947156 101947156 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 101947156 101947156 G A SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known nonsense c.1432 p.R478* 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 99 0 0 80 6 6.97674 PITX2 0 genome.wustl.edu 37 4 111554122 111554122 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 111554122 111554122 C T SNP PITX2 ENST00000354925 human ensembl 74_37 -1 known silent c.33 p.A11 0.960 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 211 0 0 144 43 22.9947 CAMK2D 0 genome.wustl.edu 37 4 114468833 114468833 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 114468833 114468833 G A SNP CAMK2D ENST00000511664 human ensembl 74_37 -1 novel silent c.381 p.C127 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_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2D HGNC ENSG00000145349 14 0 0 10 3 23.0769 EXOSC9 0 genome.wustl.edu 37 4 122728764 122728764 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 122728764 122728764 T G SNP EXOSC9 ENST00000379663 human ensembl 74_37 +1 known missense c.592 p.F198V 1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2 pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 118 0 0 99 12 10.8108 BBS7 0 genome.wustl.edu 37 4 122782657 122782657 + Splice_Site SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 122782657 122782657 A G SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known splice_site c.341+2 e4+2 1.000 - - - no_errors BBS7 HGNC ENSG00000138686 25 0 0 45 15 25 KIAA1109 0 genome.wustl.edu 37 4 123160994 123160994 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 123160994 123160994 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.4157 p.M1386T 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 83 0 0 80 6 6.97674 FAT4 0 genome.wustl.edu 37 4 126242390 126242390 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 126242390 126242390 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.4824 p.P1608 0.593 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 94 0 0 76 30 28.3019 SLC25A31 0 genome.wustl.edu 37 4 128694557 128694557 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 128694557 128694557 G T SNP SLC25A31 ENST00000281154 human ensembl 74_37 +1 known missense c.776 p.R259L 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A31 HGNC ENSG00000151475 41 0 0 52 3 5.45455 C4orf33 0 genome.wustl.edu 37 4 130023786 130023786 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 130023786 130023786 C T SNP C4orf33 ENST00000281146 human ensembl 74_37 +1 known silent c.21 p.H7 1.000 NULL NULL - no_errors C4orf33 HGNC ENSG00000151470 61 0 0 87 6 6.45161 UVSSA 0 genome.wustl.edu 37 4 1348977 1348977 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 1348977 1348977 G A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.1120 p.V374I 0.002 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 34 0 0 22 3 12 CRIPAK 0 genome.wustl.edu 37 4 1389008 1389008 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 1389008 1389008 G A SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known missense c.709 p.G237R 0.033 smart_Post-SET_dom smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 607 1 0.164474 438 44 9.12863 SLC7A11 0 genome.wustl.edu 37 4 139140496 139140496 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 139140496 139140496 C T SNP SLC7A11 ENST00000280612 human ensembl 74_37 -1 known missense c.670 p.A224T 1.000 pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 51 0 0 72 4 5.26316 TBC1D9 0 genome.wustl.edu 37 4 141598177 141598177 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 141598177 141598177 G A SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known silent c.930 p.H310 1.000 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 140 0 0 111 11 9.01639 NR3C2 0 genome.wustl.edu 37 4 149356545 149356545 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 149356545 149356545 G T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.1468 p.P490T 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 99 0 0 81 6 6.89655 NR3C2 0 genome.wustl.edu 37 4 149357244 149357244 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 149357244 149357244 C T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.769 p.V257M 0.998 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 97 0 0 89 6 6.31579 FHDC1 0 genome.wustl.edu 37 4 153895835 153895835 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 153895835 153895835 C T SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known silent c.1392 p.H464 0.030 smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 44 0 0 29 7 19.4444 KIAA0922 0 genome.wustl.edu 37 4 154507424 154507424 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 154507424 154507424 C T SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.1375 p.L459F 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 62 0 0 55 17 23.6111 FGA 0 genome.wustl.edu 37 4 155506728 155506728 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 155506728 155506728 C T SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.1853 p.S618N 0.000 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 93 0 0 94 7 6.93069 LRAT 0 genome.wustl.edu 37 4 155670333 155670333 + RNA SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 155670333 155670333 T C SNP LRAT ENST00000502474 human ensembl 74_37 +1 known rna NULL NULL 0.947 - - - no_errors LRAT HGNC ENSG00000121207 94 0 0 95 13 12.037 GUCY1A3 0 genome.wustl.edu 37 4 156651343 156651343 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 156651343 156651343 G A SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.2033 p.G678D 1.000 NULL pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 67 0 0 65 9 12.1622 GUCY1B3 0 genome.wustl.edu 37 4 156721176 156721176 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 156721176 156721176 G A SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known silent c.1125 p.R375 0.996 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 38 0 0 40 5 11.1111 SPOCK3 0 genome.wustl.edu 37 4 167675864 167675864 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 167675864 167675864 G T SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known silent c.735 p.I245 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 81 0 0 71 29 29 FBXO8 0 genome.wustl.edu 37 4 175160171 175160171 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 175160171 175160171 A G SNP FBXO8 ENST00000393674 human ensembl 74_37 -1 known missense c.746 p.L249S 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_F-box_dom,smart_Sec7_dom,pfscan_F-box_dom,pfscan_Sec7_dom - no_errors FBXO8 HGNC ENSG00000164117 37 0 0 44 4 8.33333 CEP44 0 genome.wustl.edu 37 4 175229932 175229932 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 175229932 175229932 A G SNP CEP44 ENST00000426172 human ensembl 74_37 +1 known silent c.600 p.A200 0.000 NULL NULL - no_errors CEP44 HGNC ENSG00000164118 51 0 0 50 6 10.7143 STOX2 0 genome.wustl.edu 37 4 184932048 184932048 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 184932048 184932048 C T SNP STOX2 ENST00000308497 human ensembl 74_37 +1 known missense c.2057 p.A686V 0.095 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 14 0 0 20 5 20 TLR3 0 genome.wustl.edu 37 4 186997812 186997812 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 186997812 186997812 C T SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known silent c.39 p.G13 0.016 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 109 0 0 54 32 37.2093 KLKB1 0 genome.wustl.edu 37 4 187158011 187158011 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 187158011 187158011 A C SNP KLKB1 ENST00000264690 human ensembl 74_37 +1 known missense c.405 p.E135D 0.948 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 KLKB1 HGNC ENSG00000164344 60 0 0 68 8 10.5263 WHSC1 0 genome.wustl.edu 37 4 1976611 1976611 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 1976611 1976611 C A SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.3394 p.P1132T 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 111 0 0 111 12 9.7561 POLN 0 genome.wustl.edu 37 4 2082734 2082734 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 2082734 2082734 T C SNP POLN ENST00000382865 human ensembl 74_37 -1 known missense c.2338 p.M780V 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 142 0 0 110 9 7.56303 GPR125 0 genome.wustl.edu 37 4 22422539 22422539 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 22422539 22422539 A G SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known silent c.1779 p.V593 0.834 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 271 0 0 251 22 8.05861 PPARGC1A 0 genome.wustl.edu 37 4 23831131 23831131 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 23831131 23831131 A G SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known silent c.507 p.H169 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 65 0 0 59 6 9.23077 FAM193A 0 genome.wustl.edu 37 4 2701952 2701952 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 2701952 2701952 G A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known silent c.3180 p.A1060 0.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 34 0 0 21 8 27.5862 NOP14 0 genome.wustl.edu 37 4 2948140 2948140 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 2948140 2948140 A G SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.1634 p.V545A 0.998 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 115 0 0 130 10 7.14286 KLF3 0 genome.wustl.edu 37 4 38696378 38696378 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 38696378 38696378 C T SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known missense c.707 p.S236L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 133 0 0 144 9 5.88235 TMEM156 0 genome.wustl.edu 37 4 38990475 38990475 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 38990475 38990475 C T SNP TMEM156 ENST00000381938 human ensembl 74_37 -1 known nonsense c.735 p.W245* 1.000 NULL NULL - no_errors TMEM156 HGNC ENSG00000121895 237 0 0 146 50 25.5102 ZNF721 0 genome.wustl.edu 37 4 436908 436908 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 436908 436908 A G SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.1348 p.C450R 0.793 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 31 0 0 42 6 12.5 PIGG 0 genome.wustl.edu 37 4 501310 501310 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 501310 501310 C T SNP PIGG ENST00000453061 human ensembl 74_37 +1 known silent c.687 p.S229 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 55 0 0 33 4 10.8108 EVC2 0 genome.wustl.edu 37 4 5687115 5687115 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 5687115 5687115 G T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.798 p.T266 0.759 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 140 0 0 123 8 6.10687 SRP72 0 genome.wustl.edu 37 4 57340534 57340534 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 57340534 57340534 T C SNP SRP72 ENST00000342756 human ensembl 74_37 +1 known missense c.587 p.M196T 1.000 smart_TPR_repeat pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 80 0 0 63 10 13.6986 MAN2B2 0 genome.wustl.edu 37 4 6619137 6619137 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 6619137 6619137 G A SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.2732 p.R911H 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 117 0 0 74 26 26 CCDC96 0 genome.wustl.edu 37 4 7043253 7043253 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 7043253 7043253 G A SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known silent c.1413 p.A471 0.972 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 255 0 0 178 70 28.2258 RUFY3 0 genome.wustl.edu 37 4 71588444 71588444 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 71588444 71588444 C T SNP RUFY3 ENST00000226328 human ensembl 74_37 +1 known missense c.154 p.P52S 1.000 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 114 0 0 100 6 5.66038 PCGF3 0 genome.wustl.edu 37 4 727562 727562 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 727562 727562 C T SNP PCGF3 ENST00000362003 human ensembl 74_37 +1 known silent c.93 p.T31 0.539 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 89 0 0 66 5 7.04225 MTHFD2L 0 genome.wustl.edu 37 4 75065537 75065537 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 75065537 75065537 A G SNP MTHFD2L ENST00000395759 human ensembl 74_37 +1 known missense c.478 p.N160D 1.000 pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 77 0 0 88 11 11.1111 SH3TC1 0 genome.wustl.edu 37 4 8229226 8229226 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 8229226 8229226 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.1805 p.A602V 0.994 smart_TPR_repeat superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 133 0 0 98 32 24.6154 KLHL8 0 genome.wustl.edu 37 4 88116474 88116474 + Splice_Site SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 88116474 88116474 A G SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known splice_site c.216+2 e1+2 0.998 - - - no_errors KLHL8 HGNC ENSG00000145332 15 0 0 25 7 21.875 SPARCL1 0 genome.wustl.edu 37 4 88403698 88403698 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 88403698 88403698 T C SNP SPARCL1 ENST00000282470 human ensembl 74_37 -1 known missense c.1546 p.T516A 0.639 pfam_SPARC/Testican_Ca-bd-dom,pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom - no_errors SPARCL1 HGNC ENSG00000152583 60 0 0 57 5 8.06452 SPARCL1 0 genome.wustl.edu 37 4 88411935 88411935 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 88411935 88411935 G T SNP SPARCL1 ENST00000282470 human ensembl 74_37 -1 known missense c.1387 p.P463T 1.000 pfam_Kazal_dom,smart_Kazal_dom,pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom - no_errors SPARCL1 HGNC ENSG00000152583 121 0 0 83 9 9.78261 FAM13A-AS1 0 genome.wustl.edu 37 4 89649843 89649843 + RNA SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 89649843 89649843 A G SNP FAM13A-AS1 ENST00000500765 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM13A-AS1 HGNC ENSG00000248019 36 0 0 25 10 28.5714 CCSER1 0 genome.wustl.edu 37 4 91230124 91230124 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 91230124 91230124 G T SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.689 p.C230F 1.000 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 22 0 0 14 11 44 STPG2 0 genome.wustl.edu 37 4 98762072 98762072 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 98762072 98762072 C T SNP STPG2 ENST00000295268 human ensembl 74_37 -1 known silent c.1056 p.A352 0.997 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 50 0 0 45 6 11.7647 SLCO4C1 0 genome.wustl.edu 37 5 101583012 101583012 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 101583012 101583012 A G SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known silent c.1755 p.F585 0.392 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 72 0 0 90 9 9.09091 MAN2A1 0 genome.wustl.edu 37 5 109103321 109103321 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 109103321 109103321 T C SNP MAN2A1 ENST00000261483 human ensembl 74_37 +1 known silent c.921 p.S307 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 135 0 0 126 37 22.6994 MCC 0 genome.wustl.edu 37 5 112399756 112399756 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 112399756 112399756 C T SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.1568 p.S523N 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 71 0 0 61 9 12.8571 SEMA6A 0 genome.wustl.edu 37 5 115803293 115803293 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 115803293 115803293 T C SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.1931 p.H644R 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 33 0 0 30 4 11.7647 SLC6A18 0 genome.wustl.edu 37 5 1235625 1235625 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 1235625 1235625 G A SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known missense c.469 p.A157T 0.005 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_orphan pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 50 0 0 27 12 30.7692 CLPTM1L 0 genome.wustl.edu 37 5 1318500 1318500 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 1318500 1318500 G A SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known missense c.1601 p.A534V 0.325 NULL pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 68 0 0 66 4 5.71429 TCF7 0 genome.wustl.edu 37 5 133477913 133477913 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 133477913 133477913 C G SNP TCF7 ENST00000321584 human ensembl 74_37 +1 known missense c.673 p.P225A 0.993 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7 HGNC ENSG00000081059 95 0 0 72 36 33.3333 KLHL3 0 genome.wustl.edu 37 5 137056165 137056165 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 137056165 137056165 A G SNP KLHL3 ENST00000309755 human ensembl 74_37 -1 known silent c.123 p.N41 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,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 KLHL3 HGNC ENSG00000146021 106 0 0 81 35 30.1724 KIF20A 0 genome.wustl.edu 37 5 137515455 137515455 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 137515455 137515455 C T SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.86 p.A29V 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 91 0 0 88 8 8.33333 REEP2 0 genome.wustl.edu 37 5 137781024 137781024 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 137781024 137781024 A G SNP REEP2 ENST00000378339 human ensembl 74_37 +1 known silent c.525 p.R175 0.454 NULL pfam_TB2_DP1_HVA22 - no_errors REEP2 HGNC ENSG00000132563 37 0 0 31 13 29.5455 DNAH5 0 genome.wustl.edu 37 5 13901461 13901461 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 13901461 13901461 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.1952 p.L651P 0.998 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 22 0 0 29 9 23.6842 SLC4A9 0 genome.wustl.edu 37 5 139740369 139740369 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 139740369 139740369 T C SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.275 p.I92T 0.000 superfamily_PTrfase/Anion_transptr 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 SLC4A9 HGNC ENSG00000113073 45 0 0 15 4 21.0526 PCDHA2 0 genome.wustl.edu 37 5 140176295 140176295 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140176295 140176295 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.1746 p.P582 0.001 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 92 0 0 57 33 36.6667 PCDHA3 0 genome.wustl.edu 37 5 140182244 140182244 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140182244 140182244 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1462 p.A488T 0.995 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 202 0 0 196 12 5.76923 PCDHA8 0 genome.wustl.edu 37 5 140223200 140223200 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140223200 140223200 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.2294 p.P765L 0.233 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 50 0 0 38 11 22.449 PCDHA13 0 genome.wustl.edu 37 5 140262962 140262962 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140262962 140262962 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1109 p.A370V 0.903 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 131 0 0 125 12 8.75912 PCDHA13 0 genome.wustl.edu 37 5 140263639 140263639 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140263639 140263639 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1786 p.A596T 0.987 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 PCDHA13 HGNC ENSG00000239389 135 0 0 105 12 10.2564 PCDHB5 0 genome.wustl.edu 37 5 140515685 140515685 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140515685 140515685 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.669 p.S223 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 149 0 0 108 43 28.4768 PCDHB5 0 genome.wustl.edu 37 5 140516972 140516972 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140516972 140516972 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1956 p.S652 0.761 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 61 0 0 58 18 23.6842 PCDHB5 0 genome.wustl.edu 37 5 140517397 140517397 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140517397 140517397 T C SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.2381 p.L794S 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 80 0 0 73 7 8.75 PCDHB8 0 genome.wustl.edu 37 5 140559119 140559119 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140559119 140559119 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1504 p.A502T 0.588 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 553 0 0 504 48 8.69565 PCDHB16 0 genome.wustl.edu 37 5 140562190 140562190 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140562190 140562190 T C SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.56 p.V19A 0.016 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 79 0 0 99 7 6.60377 PCDHB10 0 genome.wustl.edu 37 5 140574321 140574321 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140574321 140574321 T C SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.2196 p.G732 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 156 0 0 114 11 8.8 PCDHB14 0 genome.wustl.edu 37 5 140603564 140603564 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140603564 140603564 G A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.487 p.G163R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 82 0 0 82 8 8.88889 PCDHGA4 0 genome.wustl.edu 37 5 140737100 140737100 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140737100 140737100 C T SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.2333 p.T778M 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 117 0 0 100 31 23.6641 PCDHGB4 0 genome.wustl.edu 37 5 140769364 140769364 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140769364 140769364 A C SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1913 p.Q638P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 35 0 0 26 4 13.3333 PCDHGC4 0 genome.wustl.edu 37 5 140864818 140864818 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140864818 140864818 C T SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known silent c.78 p.Y26 0.020 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 85 0 0 61 11 15.2778 RBM27 0 genome.wustl.edu 37 5 145609441 145609441 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 145609441 145609441 G A SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.557 p.R186H 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 102 1 0.970874 72 24 25 PPP2R2B 0 genome.wustl.edu 37 5 146077585 146077585 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 146077585 146077585 C T SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known nonsense c.489 p.W163* 1.000 pfam_WD40_repeat,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 PPP2R2B HGNC ENSG00000156475 99 0 0 81 6 6.89655 DPYSL3 0 genome.wustl.edu 37 5 146788353 146788353 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 146788353 146788353 T C SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.628 p.T210A 0.779 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 40 0 0 45 8 15.0943 CSNK1A1 0 genome.wustl.edu 37 5 148886637 148886637 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 148886637 148886637 T G SNP CSNK1A1 ENST00000515768 human ensembl 74_37 -1 known missense c.894 p.E298D 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 CSNK1A1 HGNC ENSG00000113712 40 0 0 33 3 8.33333 TIGD6 0 genome.wustl.edu 37 5 149375905 149375905 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 149375905 149375905 T C SNP TIGD6 ENST00000296736 human ensembl 74_37 -1 known missense c.7 p.N3D 0.976 pfscan_HTH_Psq pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 125 0 0 83 37 30.8333 CSF1R 0 genome.wustl.edu 37 5 149460351 149460351 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 149460351 149460351 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.286 p.A96T 0.017 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 29 0 0 21 8 27.5862 TCOF1 0 genome.wustl.edu 37 5 149751643 149751643 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 149751643 149751643 G A SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known silent c.714 p.A238 0.000 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 41 0 0 30 4 11.7647 SPARC 0 genome.wustl.edu 37 5 151043781 151043781 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 151043781 151043781 G A SNP SPARC ENST00000231061 human ensembl 74_37 -1 known silent c.750 p.T250 0.011 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Kazal_dom,smart_Fol_N,smart_Kazal_dom - no_errors SPARC HGNC ENSG00000113140 21 0 0 28 3 9.67742 ADAM19 0 genome.wustl.edu 37 5 156915296 156915296 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 156915296 156915296 C T SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.2533 p.A845T 0.967 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 221 0 0 153 42 21.5385 MYO10 0 genome.wustl.edu 37 5 16670981 16670981 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 16670981 16670981 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.5537 p.A1846V 0.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain 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 28 0 0 31 6 16.2162 DOCK2 0 genome.wustl.edu 37 5 169506070 169506070 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 169506070 169506070 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5086 p.R1696W 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 71 0 0 53 25 32.0513 TSPAN17 0 genome.wustl.edu 37 5 176079825 176079825 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 176079825 176079825 G A SNP TSPAN17 ENST00000310032 human ensembl 74_37 +1 known missense c.367 p.D123N 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN17 HGNC ENSG00000048140 157 1 0.632911 169 19 10.1064 NSD1 0 genome.wustl.edu 37 5 176719126 176719126 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 176719126 176719126 G A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.6430 p.A2144T 0.999 superfamily_Znf_FYVE_PHD,smart_Znf_PHD 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 41 0 0 49 6 10.9091 FAM193B 0 genome.wustl.edu 37 5 176966091 176966091 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 176966091 176966091 G A SNP FAM193B ENST00000514747 human ensembl 74_37 -1 novel missense c.268 p.R90C 1.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 11 0 0 9 3 25 B4GALT7 0 genome.wustl.edu 37 5 177031391 177031391 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 177031391 177031391 G A SNP B4GALT7 ENST00000029410 human ensembl 74_37 +1 known missense c.262 p.A88T 0.007 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT7 HGNC ENSG00000027847 23 0 0 19 11 36.6667 HNRNPAB 0 genome.wustl.edu 37 5 177633848 177633848 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 177633848 177633848 C A SNP HNRNPAB ENST00000358344 human ensembl 74_37 +1 known missense c.494 p.A165D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 91 0 0 59 20 25.3165 PHYKPL 0 genome.wustl.edu 37 5 177642329 177642329 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 177642329 177642329 T C SNP PHYKPL ENST00000308158 human ensembl 74_37 -1 known missense c.1030 p.M344V 0.998 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors PHYKPL HGNC ENSG00000175309 35 0 0 24 6 20 GRM6 0 genome.wustl.edu 37 5 178413950 178413950 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 178413950 178413950 G A SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1389 p.N463 0.319 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_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 38 0 0 22 5 18.5185 RUFY1 0 genome.wustl.edu 37 5 178996343 178996343 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 178996343 178996343 G T SNP RUFY1 ENST00000319449 human ensembl 74_37 +1 known missense c.745 p.G249W 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC ENSG00000176783 186 0 0 119 20 14.3885 BTNL9 0 genome.wustl.edu 37 5 180486592 180486592 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 180486592 180486592 G A SNP BTNL9 ENST00000376842 human ensembl 74_37 +1 known silent c.1341 p.P447 0.001 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin 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 26 0 0 37 14 27.451 ENSG00000248103 0 genome.wustl.edu 37 5 180708604 180708604 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 180708604 180708604 G A SNP ENSG00000248103 ENST00000412295 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors CTC-338M12.9 Clone_based_vega_gene ENSG00000248103 12 0 0 7 4 36.3636 SDHA 0 genome.wustl.edu 37 5 228384 228384 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 228384 228384 G A SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.706 p.A236T 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 72 0 0 69 5 6.75676 CDH10 0 genome.wustl.edu 37 5 24509701 24509701 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 24509701 24509701 G A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known silent c.1230 p.D410 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 40 0 0 31 15 32.6087 MTMR12 0 genome.wustl.edu 37 5 32243648 32243648 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 32243648 32243648 C T SNP MTMR12 ENST00000382142 human ensembl 74_37 -1 known missense c.1079 p.S360N 1.000 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 78 0 0 87 8 8.42105 NIPBL 0 genome.wustl.edu 37 5 36985317 36985317 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 36985317 36985317 T A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.2035 p.S679T 0.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 45 0 0 42 17 28.8136 FYB 0 genome.wustl.edu 37 5 39203057 39203057 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 39203057 39203057 C T SNP FYB ENST00000540520 human ensembl 74_37 -1 known silent c.36 p.A12 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 71 0 0 56 27 32.5301 C9 0 genome.wustl.edu 37 5 39311417 39311417 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 39311417 39311417 G A SNP C9 ENST00000263408 human ensembl 74_37 -1 known silent c.933 p.R311 0.002 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 61 0 0 41 23 35.9375 C6 0 genome.wustl.edu 37 5 41149541 41149541 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 41149541 41149541 C T SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.2425 p.D809N 0.000 pfam_Kazal_dom,smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 151 0 0 118 45 27.6074 ITGA1 0 genome.wustl.edu 37 5 52227966 52227966 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 52227966 52227966 G T SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known missense c.2861 p.S954I 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 ITGA1 HGNC ENSG00000213949 32 0 0 17 11 39.2857 OCLN 0 genome.wustl.edu 37 5 68805354 68805354 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 68805354 68805354 C T SNP OCLN ENST00000355237 human ensembl 74_37 +1 known missense c.437 p.A146V 1.000 pfam_Marvel,pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 98 0 0 86 6 6.52174 MCCC2 0 genome.wustl.edu 37 5 70930984 70930984 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 70930984 70930984 A G SNP MCCC2 ENST00000340941 human ensembl 74_37 +1 known missense c.910 p.I304V 0.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors MCCC2 HGNC ENSG00000131844 68 0 0 61 5 7.57576 CKMT2 0 genome.wustl.edu 37 5 80548680 80548680 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 80548680 80548680 G T SNP CKMT2 ENST00000254035 human ensembl 74_37 +1 known missense c.319 p.G107C 1.000 pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 168 0 0 139 14 9.15033 GPR98 0 genome.wustl.edu 37 5 89989724 89989724 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 89989724 89989724 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.7151 p.R2384Q 0.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 18 0 0 16 3 15.7895 ANKRD32 0 genome.wustl.edu 37 5 94030643 94030643 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 94030643 94030643 A G SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known missense c.2803 p.T935A 0.997 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 50 0 0 74 8 9.7561 TTC37 0 genome.wustl.edu 37 5 94872520 94872520 + Splice_Site SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 94872520 94872520 C T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known splice_site c.751+1 e7+1 1.000 - - - no_errors TTC37 HGNC ENSG00000198677 199 0 0 210 16 7.07965 ERAP2 0 genome.wustl.edu 37 5 96224907 96224907 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 96224907 96224907 C A SNP ERAP2 ENST00000437043 human ensembl 74_37 +1 known missense c.868 p.P290T 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 57 0 0 63 7 10 SIM1 0 genome.wustl.edu 37 6 100897247 100897247 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 100897247 100897247 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.535 p.G179S 1.000 superfamily_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 46 0 0 27 10 27.027 OSTM1 0 genome.wustl.edu 37 6 108366005 108366005 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 108366005 108366005 T C SNP OSTM1 ENST00000193322 human ensembl 74_37 -1 known missense c.989 p.Q330R 1.000 pfam_Osteopetrosis-assoc_TM_1 pfam_Osteopetrosis-assoc_TM_1 - no_errors OSTM1 HGNC ENSG00000081087 58 0 0 51 7 12.069 CDC40 0 genome.wustl.edu 37 6 110501676 110501676 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 110501676 110501676 C T SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known missense c.29 p.A10V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 71 0 0 56 7 11.1111 HS3ST5 0 genome.wustl.edu 37 6 114379310 114379310 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 114379310 114379310 C T SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.152 p.R51H 0.737 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 40 0 0 32 6 15.7895 GPRC6A 0 genome.wustl.edu 37 6 117113344 117113344 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 117113344 117113344 T C SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known silent c.2742 p.V914 0.000 NULL pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 144 0 0 171 23 11.8557 ENPP3 0 genome.wustl.edu 37 6 132014640 132014640 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 132014640 132014640 C T SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known nonsense c.1288 p.R430* 0.916 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 79 0 0 82 7 7.86517 SLC2A12 0 genome.wustl.edu 37 6 134350539 134350539 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 134350539 134350539 C T SNP SLC2A12 ENST00000275230 human ensembl 74_37 -1 known missense c.424 p.V142I 0.672 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 71 0 0 78 9 10.3448 MYB 0 genome.wustl.edu 37 6 135515019 135515019 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 135515019 135515019 T C SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.806 p.I269T 1.000 pfam_Tscrpt_reg_Wos2-domain 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 126 0 0 88 31 26.0504 NMBR 0 genome.wustl.edu 37 6 142409703 142409703 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 142409703 142409703 C T SNP NMBR ENST00000258042 human ensembl 74_37 -1 known silent c.93 p.P31 0.000 prints_NeuroB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NeuroB_rcpt,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NMBR HGNC ENSG00000135577 52 0 0 26 13 33.3333 GPR126 0 genome.wustl.edu 37 6 142688974 142688974 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 142688974 142688974 G A SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known silent c.372 p.A124 0.837 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 36 0 0 59 4 6.34921 HIVEP2 0 genome.wustl.edu 37 6 143091478 143091478 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 143091478 143091478 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.4398 p.Y1466 0.147 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 84 0 0 51 28 35.443 ADAT2 0 genome.wustl.edu 37 6 143755071 143755071 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 143755071 143755071 C G SNP ADAT2 ENST00000237283 human ensembl 74_37 -1 known missense c.249 p.W83C 1.000 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors ADAT2 HGNC ENSG00000189007 166 0 0 139 9 6.08108 SHPRH 0 genome.wustl.edu 37 6 146262928 146262928 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 146262928 146262928 A G SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.2321 p.V774A 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 44 0 0 70 5 6.66667 GRM1 0 genome.wustl.edu 37 6 146351348 146351348 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 146351348 146351348 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.695 p.T232M 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 60 0 0 42 15 26.3158 GRM1 0 genome.wustl.edu 37 6 146755562 146755562 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 146755562 146755562 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3215 p.P1072L 0.094 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 41 0 0 26 13 33.3333 UST 0 genome.wustl.edu 37 6 149285605 149285605 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 149285605 149285605 T C SNP UST ENST00000367463 human ensembl 74_37 +1 known missense c.587 p.L196S 1.000 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 68 0 0 51 5 8.92857 CCDC170 0 genome.wustl.edu 37 6 151857473 151857473 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 151857473 151857473 G A SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known silent c.78 p.S26 0.994 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 79 0 0 69 23 25 SYNE1 0 genome.wustl.edu 37 6 152583314 152583314 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 152583314 152583314 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.18825 p.P6275 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 68 0 0 51 5 8.92857 TFB1M 0 genome.wustl.edu 37 6 155579107 155579107 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 155579107 155579107 T G SNP TFB1M ENST00000367166 human ensembl 74_37 -1 known missense c.904 p.S302R 0.978 NULL pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 148 0 0 131 10 7.0922 SLC22A2 0 genome.wustl.edu 37 6 160670319 160670319 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 160670319 160670319 G A SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known silent c.771 p.Y257 0.974 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 148 0 0 124 13 9.48905 LPA 0 genome.wustl.edu 37 6 161006078 161006078 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 161006078 161006078 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.4289 p.A1430V 0.946 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 266 0 0 172 57 24.8908 PDE10A 0 genome.wustl.edu 37 6 165846524 165846524 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 165846524 165846524 T A SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.631 p.I211F 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 63 0 0 67 5 6.94444 THBS2 0 genome.wustl.edu 37 6 169637338 169637338 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 169637338 169637338 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.1404 p.V468 0.926 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 37 0 0 21 9 30 CAP2 0 genome.wustl.edu 37 6 17551823 17551823 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 17551823 17551823 G T SNP CAP2 ENST00000229922 human ensembl 74_37 +1 known missense c.1338 p.Q446H 1.000 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP2 HGNC ENSG00000112186 131 0 0 85 39 31.4516 ZKSCAN8 0 genome.wustl.edu 37 6 28121148 28121148 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 28121148 28121148 G A SNP ZKSCAN8 ENST00000330236 human ensembl 74_37 +1 known missense c.1090 p.A364T 0.951 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 ZKSCAN8 HGNC ENSG00000198315 418 1 0.238663 292 98 25.1282 SCAND3 0 genome.wustl.edu 37 6 28543694 28543694 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 28543694 28543694 G A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.788 p.A263V 0.998 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 111 0 0 81 31 27.6786 LOC401242 0 genome.wustl.edu 37 6 28829611 28829611 + RNA SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 28829611 28829611 A G SNP LOC401242 ENST00000440244 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors XXbac-BPG308K3.6 Clone_based_vega_gene ENSG00000225595 22 0 0 17 3 15 HLA-J 0 genome.wustl.edu 37 6 29976188 29976188 + RNA SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 29976188 29976188 A G SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.729 - - - no_errors HLA-J HGNC ENSG00000204622 31 0 0 28 6 17.6471 BAG6 0 genome.wustl.edu 37 6 31609931 31609931 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 31609931 31609931 C T SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known missense c.2293 p.G765R 1.000 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 110 0 0 107 7 6.14035 SKIV2L 0 genome.wustl.edu 37 6 31936512 31936512 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 31936512 31936512 T C SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known missense c.3119 p.L1040P 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 143 0 0 120 14 10.4478 NOTCH4 0 genome.wustl.edu 37 6 32166763 32166763 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 32166763 32166763 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.4475 p.R1492Q 0.000 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 173 0 0 94 45 32.3741 BRD2 0 genome.wustl.edu 37 6 32942267 32942267 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 32942267 32942267 C T SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known silent c.58 p.L20 0.758 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 122 0 0 109 12 9.91736 TAPBP 0 genome.wustl.edu 37 6 33272822 33272822 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 33272822 33272822 G A SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known missense c.812 p.A271V 0.997 prints_Tapasin pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 156 0 0 84 55 39.5683 ITPR3 0 genome.wustl.edu 37 6 33648141 33648141 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 33648141 33648141 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.4260 p.C1420 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 66 0 0 39 6 13.3333 ITPR3 0 genome.wustl.edu 37 6 33650343 33650343 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 33650343 33650343 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.4519 p.R1507C 0.443 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 72 0 0 62 20 24.3902 C6orf1 0 genome.wustl.edu 37 6 34214513 34214513 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 34214513 34214513 A G SNP C6orf1 ENST00000394990 human ensembl 74_37 -1 known silent c.258 p.L86 0.644 NULL NULL - no_errors C6orf1 HGNC ENSG00000186577 38 0 0 54 6 10 PXDC1 0 genome.wustl.edu 37 6 3751713 3751713 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 3751713 3751713 C T SNP PXDC1 ENST00000380283 human ensembl 74_37 -1 known missense c.53 p.G18D 1.000 superfamily_Phox pfam_Phox,superfamily_Phox - no_errors PXDC1 HGNC ENSG00000168994 30 0 0 15 4 21.0526 KCNK16 0 genome.wustl.edu 37 6 39284590 39284590 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 39284590 39284590 A T SNP KCNK16 ENST00000425054 human ensembl 74_37 -1 known missense c.629 p.L210H 1.000 pfam_2pore_dom_K_chnl_dom pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC ENSG00000095981 257 0 0 233 16 6.4257 TTBK1 0 genome.wustl.edu 37 6 43226849 43226849 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 43226849 43226849 C A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.1090 p.L364M 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 TTBK1 HGNC ENSG00000146216 94 0 0 60 19 24.0506 TDRD6 0 genome.wustl.edu 37 6 46658738 46658738 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 46658738 46658738 G T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.2873 p.R958I 0.004 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 63 0 0 72 7 8.86076 DST 0 genome.wustl.edu 37 6 56484076 56484076 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 56484076 56484076 T C SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.4756 p.T1586A 1.000 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 127 0 0 113 6 5.04202 DST 0 genome.wustl.edu 37 6 56484309 56484309 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 56484309 56484309 A T SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.4523 p.I1508N 0.006 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 46 0 0 33 13 28.2609 BAI3 0 genome.wustl.edu 37 6 69653793 69653793 + Silent SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 69653793 69653793 A C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.1102 p.R368 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 80 0 0 105 12 10.2564 HTR1B 0 genome.wustl.edu 37 6 78172393 78172393 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 78172393 78172393 G A SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known missense c.728 p.T243M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 59 0 0 45 18 28.5714 KIAA1009 0 genome.wustl.edu 37 6 84913717 84913717 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 84913717 84913717 T C SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known silent c.669 p.K223 0.013 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 52 0 0 50 7 12.2807 TBX18 0 genome.wustl.edu 37 6 85453993 85453993 + Missense_Mutation SNP G G C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 85453993 85453993 G C SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.990 p.D330E 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 55 0 0 48 7 12.7273 MDN1 0 genome.wustl.edu 37 6 90360519 90360519 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 90360519 90360519 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.15963 p.A5321 0.001 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 63 0 0 56 18 24.3243 MDN1 0 genome.wustl.edu 37 6 90402711 90402711 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 90402711 90402711 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.10038 p.L3346 0.980 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 31 0 0 29 8 21.6216 MMS22L 0 genome.wustl.edu 37 6 97720928 97720928 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 97720928 97720928 T C SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known silent c.351 p.S117 0.342 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 142 0 0 161 9 5.29412 LRCH4 0 genome.wustl.edu 37 7 100175478 100175478 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 100175478 100175478 G A SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known missense c.1006 p.R336W 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 54 0 0 32 12 27.2727 EPHB4 0 genome.wustl.edu 37 7 100410487 100410487 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 100410487 100410487 A G SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.2000 p.I667T 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,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 EPHB4 HGNC ENSG00000196411 125 0 0 97 7 6.73077 MUC17 0 genome.wustl.edu 37 7 100678679 100678679 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 100678679 100678679 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.3982 p.P1328S 0.007 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 315 0 0 220 76 25.6757 MUC17 0 genome.wustl.edu 37 7 100680822 100680822 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 100680822 100680822 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.6125 p.R2042Q 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 216 0 0 149 71 32.2727 TRIM56 0 genome.wustl.edu 37 7 100732127 100732127 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 100732127 100732127 G T SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known missense c.1534 p.G512W 0.469 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 113 0 0 93 11 10.5769 CUX1 0 genome.wustl.edu 37 7 101837172 101837172 + Splice_Site SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 101837172 101837172 T C SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known splice_site c.1158+2 e13+2 1.000 - - - no_errors CUX1 HGNC ENSG00000257923 49 0 0 30 4 11.7647 FBXL13 0 genome.wustl.edu 37 7 102604003 102604003 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 102604003 102604003 C T SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.701 p.R234Q 0.949 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 70 0 0 59 13 18.0556 COG5 0 genome.wustl.edu 37 7 106876896 106876896 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 106876896 106876896 T G SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.2183 p.Q728P 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 63 0 0 61 8 11.5942 FAM3C 0 genome.wustl.edu 37 7 121019010 121019010 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 121019010 121019010 A G SNP FAM3C ENST00000359943 human ensembl 74_37 -1 known silent c.72 p.S24 1.000 NULL NULL - no_errors FAM3C HGNC ENSG00000196937 66 0 0 67 7 9.45946 CADPS2 0 genome.wustl.edu 37 7 122194640 122194640 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 122194640 122194640 A G SNP CADPS2 ENST00000449022 human ensembl 74_37 -1 known missense c.1439 p.V480A 1.000 superfamily_C2_dom pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 44 0 0 52 6 10.3448 GPR37 0 genome.wustl.edu 37 7 124404242 124404242 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 124404242 124404242 C T SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known silent c.789 p.A263 0.257 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 68 0 0 39 12 23.5294 GCC1 0 genome.wustl.edu 37 7 127222705 127222705 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 127222705 127222705 C T SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1691 p.R564Q 0.992 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 46 0 0 40 9 18.3673 FSCN3 0 genome.wustl.edu 37 7 127235583 127235583 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 127235583 127235583 G A SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.367 p.V123M 0.996 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 59 0 0 44 32 42.1053 IMPDH1 0 genome.wustl.edu 37 7 128035288 128035288 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 128035288 128035288 C A SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known missense c.1302 p.K434N 1.000 pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pfam_FMN-dep_DH,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 119 0 0 96 9 8.57143 FLNC 0 genome.wustl.edu 37 7 128488118 128488118 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 128488118 128488118 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.4576 p.R1526C 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 16 0 0 9 4 30.7692 FLNC 0 genome.wustl.edu 37 7 128488733 128488733 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 128488733 128488733 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.4699 p.R1567W 0.976 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 136 0 0 87 21 19.4444 MIR335 0 genome.wustl.edu 37 7 130137938 130137938 + RNA SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 130137938 130137938 C A SNP MIR335 ENST00000604666 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors hsa-mir-335 miRBase ENSG00000270823 53 0 0 53 7 11.6667 WEE2 0 genome.wustl.edu 37 7 141418950 141418950 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 141418950 141418950 G A SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known missense c.664 p.E222K 0.974 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 67 0 0 97 7 6.73077 MGAM 0 genome.wustl.edu 37 7 141747669 141747669 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 141747669 141747669 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.2583 p.T861 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 25 0 0 12 10 45.4545 CNTNAP2 0 genome.wustl.edu 37 7 146536911 146536911 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 146536911 146536911 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.317 p.S106N 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_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 62 0 0 50 4 7.40741 CUL1 0 genome.wustl.edu 37 7 148427309 148427309 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 148427309 148427309 A G SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.95 p.Y32C 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 110 0 0 84 14 14.2857 CUL1 0 genome.wustl.edu 37 7 148484179 148484179 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 148484179 148484179 C T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known silent c.1446 p.D482 0.988 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 71 0 0 58 9 13.4328 CUL1 0 genome.wustl.edu 37 7 148489867 148489867 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 148489867 148489867 C T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.1856 p.A619V 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 34 0 0 28 11 28.2051 ZNF775 0 genome.wustl.edu 37 7 150094892 150094892 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 150094892 150094892 C T SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known silent c.1323 p.G441 0.119 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 8 0 0 4 7 63.6364 ABCB8 0 genome.wustl.edu 37 7 150742328 150742328 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 150742328 150742328 C T SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known silent c.2100 p.G700 0.253 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 ABCB8 HGNC ENSG00000197150 58 0 0 46 23 33.3333 CHPF2 0 genome.wustl.edu 37 7 150935141 150935141 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 150935141 150935141 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.1693 p.A565T 0.998 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 32 0 0 29 13 30.9524 KMT2C 0 genome.wustl.edu 37 7 151873936 151873936 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 151873936 151873936 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.8602 p.T2868A 0.000 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 79 0 0 75 7 8.53659 KMT2C 0 genome.wustl.edu 37 7 151874713 151874713 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 151874713 151874713 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.7825 p.R2609* 0.226 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 113 0 0 110 16 12.6984 HTR5A 0 genome.wustl.edu 37 7 154862764 154862764 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 154862764 154862764 C T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known missense c.155 p.A52V 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 50 0 0 42 6 12.5 LMBR1 0 genome.wustl.edu 37 7 156469082 156469082 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 156469082 156469082 G A SNP LMBR1 ENST00000430825 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LMBR1 HGNC ENSG00000105983 61 0 0 50 21 29.5775 PTPRN2 0 genome.wustl.edu 37 7 157369377 157369377 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 157369377 157369377 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.2780 p.T927M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt 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 18 0 0 11 8 42.1053 PSMG3 0 genome.wustl.edu 37 7 1607366 1607366 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 1607366 1607366 T C SNP PSMG3 ENST00000252329 human ensembl 74_37 -1 known missense c.337 p.R113G 0.953 pfam_Proteasome_assmbl_chp_3 pfam_Proteasome_assmbl_chp_3 - no_errors PSMG3 HGNC ENSG00000157778 79 0 0 63 9 12.5 TSPAN13 0 genome.wustl.edu 37 7 16815913 16815913 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 16815913 16815913 C T SNP TSPAN13 ENST00000262067 human ensembl 74_37 +1 known silent c.141 p.G47 0.051 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN13 HGNC ENSG00000106537 78 0 0 48 17 26.1538 TMEM196 0 genome.wustl.edu 37 7 19765226 19765226 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 19765226 19765226 G T SNP TMEM196 ENST00000405764 human ensembl 74_37 -1 known missense c.370 p.L124I 1.000 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 58 0 0 58 6 9.375 DNAH11 0 genome.wustl.edu 37 7 21627750 21627750 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 21627750 21627750 C A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.1779 p.S593R 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 30 0 0 37 5 11.9048 SNX8 0 genome.wustl.edu 37 7 2309235 2309235 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 2309235 2309235 C T SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known missense c.580 p.G194R 0.996 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 73 0 0 40 14 25.9259 KLHL7 0 genome.wustl.edu 37 7 23205486 23205486 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 23205486 23205486 C T SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.1106 p.P369L 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 50 0 0 46 5 9.80392 C7orf31 0 genome.wustl.edu 37 7 25194759 25194759 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 25194759 25194759 G A SNP C7orf31 ENST00000283905 human ensembl 74_37 -1 known missense c.466 p.R156C 0.683 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 84 0 0 72 8 10 NFE2L3 0 genome.wustl.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 26225102 26225102 G A SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known missense c.1784 p.C595Y 1.000 pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 26 0 0 32 3 8.57143 TTYH3 0 genome.wustl.edu 37 7 2687618 2687618 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 2687618 2687618 C T SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known silent c.652 p.L218 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 93 0 0 60 6 9.09091 AMZ1 0 genome.wustl.edu 37 7 2752320 2752320 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 2752320 2752320 C T SNP AMZ1 ENST00000312371 human ensembl 74_37 +1 known silent c.1305 p.D435 0.867 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 38 0 0 30 11 26.8293 CARD11 0 genome.wustl.edu 37 7 2976789 2976789 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 2976789 2976789 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.1223 p.R408H 0.998 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 105 0 0 63 19 23.1707 FAM188B 0 genome.wustl.edu 37 7 30821830 30821830 + Splice_Site SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 30821830 30821830 T C SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known splice_site c.419+2 e3+2 0.985 - - - no_errors FAM188B HGNC ENSG00000106125 30 0 0 22 3 12 CCDC129 0 genome.wustl.edu 37 7 31617485 31617485 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 31617485 31617485 C T SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known nonsense c.685 p.R229* 1.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 11 0 0 18 3 14.2857 KIAA0895 0 genome.wustl.edu 37 7 36423468 36423468 + Nonsense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 36423468 36423468 C A SNP KIAA0895 ENST00000297063 human ensembl 74_37 -1 known nonsense c.178 p.E60* 0.994 NULL pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 41 0 0 40 8 16.6667 GLI3 0 genome.wustl.edu 37 7 42012169 42012169 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 42012169 42012169 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.1870 p.L624I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 57 0 0 38 11 22.449 GLI3 0 genome.wustl.edu 37 7 42063102 42063102 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 42063102 42063102 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.1462 p.A488T 0.739 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 70 0 0 57 8 12.3077 SNORA5C 0 genome.wustl.edu 37 7 45144619 45144619 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 45144619 45144619 G A SNP SNORA5C ENST00000364902 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORA5C HGNC ENSG00000201772 84 0 0 60 8 11.7647 IGFBP1 0 genome.wustl.edu 37 7 45928343 45928343 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 45928343 45928343 C T SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known missense c.92 p.A31V 1.000 pfam_IGFBP-like,smart_IGFBP-like pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 17 0 0 11 3 21.4286 TNS3 0 genome.wustl.edu 37 7 47385927 47385927 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 47385927 47385927 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.2309 p.G770E 0.972 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 54 0 0 50 14 21.875 DDC 0 genome.wustl.edu 37 7 50607613 50607613 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 50607613 50607613 C A SNP DDC ENST00000357936 human ensembl 74_37 -1 known missense c.315 p.W105C 1.000 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 44 0 0 17 7 29.1667 PDGFA 0 genome.wustl.edu 37 7 550457 550457 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 550457 550457 G A SNP PDGFA ENST00000354513 human ensembl 74_37 -1 known missense c.442 p.R148C 0.998 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFA HGNC ENSG00000197461 24 0 0 12 4 25 ACTB 0 genome.wustl.edu 37 7 5568128 5568128 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 5568128 5568128 G A SNP ACTB ENST00000331789 human ensembl 74_37 -1 known missense c.586 p.R196C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 118 0 0 79 30 27.5229 CCT6A 0 genome.wustl.edu 37 7 56126114 56126114 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 56126114 56126114 C T SNP CCT6A ENST00000275603 human ensembl 74_37 +1 known missense c.785 p.A262V 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 27 0 0 35 5 12.5 ZNF479 0 genome.wustl.edu 37 7 57188194 57188194 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 57188194 57188194 A G SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.928 p.S310P 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 68 0 0 67 4 5.6338 EIF2AK1 0 genome.wustl.edu 37 7 6066563 6066563 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 6066563 6066563 C T SNP EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known silent c.1560 p.L520 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 EIF2AK1 HGNC ENSG00000086232 94 0 0 70 20 22.2222 SNORA22 0 genome.wustl.edu 37 7 65220567 65220567 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 65220567 65220567 C T SNP SNORA22 ENST00000383907 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors SNORA22 HGNC ENSG00000206634 84 0 0 85 5 5.55556 GUSB 0 genome.wustl.edu 37 7 65445384 65445384 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 65445384 65445384 C T SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.223 p.V75M 0.909 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 23 0 0 16 8 33.3333 C7orf26 0 genome.wustl.edu 37 7 6647637 6647637 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 6647637 6647637 G A SNP C7orf26 ENST00000344417 human ensembl 74_37 +1 known missense c.1195 p.A399T 0.000 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 77 0 0 57 18 24 FZD9 0 genome.wustl.edu 37 7 72849269 72849269 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 72849269 72849269 C T SNP FZD9 ENST00000344575 human ensembl 74_37 +1 known missense c.932 p.T311M 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD9 HGNC ENSG00000188763 86 0 0 74 31 29.5238 HEATR2 0 genome.wustl.edu 37 7 819634 819634 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 819634 819634 G A SNP HEATR2 ENST00000297440 human ensembl 74_37 +1 known missense c.2284 p.A762T 0.892 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 36 0 0 18 9 33.3333 GRM3 0 genome.wustl.edu 37 7 86468905 86468905 + Missense_Mutation SNP G G C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 86468905 86468905 G C SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.2075 p.C692S 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 34 0 0 38 4 9.52381 ADAM22 0 genome.wustl.edu 37 7 87759712 87759712 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 87759712 87759712 C A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.763 p.H255N 1.000 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,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 58 0 0 64 7 9.85915 ASB4 0 genome.wustl.edu 37 7 95167036 95167036 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 95167036 95167036 T C SNP ASB4 ENST00000325885 human ensembl 74_37 +1 known missense c.1246 p.Y416H 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC ENSG00000005981 56 0 0 73 6 7.59494 DLX5 0 genome.wustl.edu 37 7 96653686 96653686 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 96653686 96653686 C T SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known missense c.250 p.A84T 0.878 pfam_Distal-less_N pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 51 0 0 33 13 28.2609 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99027333 99027333 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 99027333 99027333 C T SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.838 p.A280T 1.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 44 0 0 33 6 15.3846 ZSCAN21 0 genome.wustl.edu 37 7 99654893 99654893 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 99654893 99654893 G A SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known silent c.264 p.L88 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 56 0 0 46 6 11.5385 VPS13B 0 genome.wustl.edu 37 8 100115270 100115270 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 100115270 100115270 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.502 p.V168I 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 108 0 0 127 37 22.561 VPS13B 0 genome.wustl.edu 37 8 100523354 100523354 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 100523354 100523354 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.4322 p.G1441D 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 60 0 0 90 7 7.21649 RP1L1 0 genome.wustl.edu 37 8 10466430 10466430 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 10466430 10466430 A G SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.5178 p.A1726 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 157 0 0 166 13 7.26257 RP1L1 0 genome.wustl.edu 37 8 10467229 10467229 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 10467229 10467229 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.4379 p.T1460M 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 82 0 0 77 11 12.5 RP1L1 0 genome.wustl.edu 37 8 10467747 10467747 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 10467747 10467747 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.3861 p.S1287 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 150 0 0 183 12 6.15385 OXR1 0 genome.wustl.edu 37 8 107719362 107719362 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 107719362 107719362 G A SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.1616 p.G539E 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 48 0 0 40 7 14.8936 PKHD1L1 0 genome.wustl.edu 37 8 110474074 110474074 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 110474074 110474074 C T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.7320 p.C2440 1.000 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 17 0 0 24 5 17.2414 HAS2 0 genome.wustl.edu 37 8 122627114 122627114 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 122627114 122627114 A C SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known missense c.894 p.D298E 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 172 0 0 207 20 8.81057 ASAP1 0 genome.wustl.edu 37 8 131124486 131124486 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 131124486 131124486 G A SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2255 p.A752V 0.899 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 62 0 0 83 10 10.7527 KCNQ3 0 genome.wustl.edu 37 8 133150155 133150155 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 133150155 133150155 G A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.1677 p.S559 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 100 0 0 95 21 18.1034 KCNQ3 0 genome.wustl.edu 37 8 133192508 133192508 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 133192508 133192508 A G SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.673 p.S225P 0.999 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 119 0 0 104 12 10.3448 TG 0 genome.wustl.edu 37 8 133883659 133883659 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 133883659 133883659 C G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.341 p.T114S 0.183 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 137 0 0 142 8 5.33333 TG 0 genome.wustl.edu 37 8 133953742 133953742 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 133953742 133953742 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.5188 p.R1730C 0.085 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 90 0 0 77 24 23.7624 SLA 0 genome.wustl.edu 37 8 134050798 134050798 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 134050798 134050798 A C SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.922 p.F308V 0.609 NULL pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 149 0 0 159 17 9.65909 ZFAT 0 genome.wustl.edu 37 8 135614834 135614834 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 135614834 135614834 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known silent c.1128 p.A376 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 85 0 0 83 19 18.6275 COL22A1 0 genome.wustl.edu 37 8 139833603 139833603 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 139833603 139833603 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.1021 p.G341S 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 138 0 0 149 15 9.14634 TSNARE1 0 genome.wustl.edu 37 8 143425535 143425535 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 143425535 143425535 G A SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known silent c.537 p.R179 0.000 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 82 0 0 72 21 22.5806 ARC 0 genome.wustl.edu 37 8 143694607 143694607 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 143694607 143694607 G T SNP ARC ENST00000356613 human ensembl 74_37 -1 known silent c.1026 p.P342 1.000 NULL prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 44 0 0 44 8 15.3846 ENSG00000254741 0 genome.wustl.edu 37 8 144661939 144661939 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 144661939 144661939 G A SNP ENSG00000254741 ENST00000529247 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-661A12.7 Clone_based_vega_gene ENSG00000254741 242 0 0 226 64 22.069 EPPK1 0 genome.wustl.edu 37 8 144940621 144940621 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 144940621 144940621 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.6801 p.A2267 0.953 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 42 0 0 58 5 7.93651 PLEC 0 genome.wustl.edu 37 8 144991545 144991545 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 144991545 144991545 C A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.12855 p.T4285 0.208 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 84 0 0 89 17 16.0377 PLEC 0 genome.wustl.edu 37 8 144993391 144993391 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 144993391 144993391 T C SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.11009 p.D3670G 1.000 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 148 0 0 180 22 10.8911 PLEC 0 genome.wustl.edu 37 8 144995498 144995498 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 144995498 144995498 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8902 p.R2968W 0.992 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 97 0 0 114 26 18.5714 PLEC 0 genome.wustl.edu 37 8 144995508 144995508 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 144995508 144995508 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.8892 p.D2964 0.889 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 102 0 0 120 12 9.09091 OPLAH 0 genome.wustl.edu 37 8 145108223 145108223 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 145108223 145108223 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.2760 p.L920 1.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 63 0 0 51 19 27.1429 CPSF1 0 genome.wustl.edu 37 8 145626419 145626419 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 145626419 145626419 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known silent c.438 p.D146 0.442 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 30 0 0 21 13 38.2353 MICU3 0 genome.wustl.edu 37 8 16884826 16884826 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 16884826 16884826 G A SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known missense c.38 p.R13Q 0.660 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 44 0 0 40 4 9.09091 CNOT7 0 genome.wustl.edu 37 8 17100550 17100550 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 17100550 17100550 A G SNP CNOT7 ENST00000361272 human ensembl 74_37 -1 known missense c.262 p.Y88H 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT7 HGNC ENSG00000198791 75 0 0 121 11 8.33333 ARHGEF10 0 genome.wustl.edu 37 8 1842674 1842674 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 1842674 1842674 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.1451 p.A484V 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 47 0 0 54 10 15.625 LZTS1 0 genome.wustl.edu 37 8 20110716 20110716 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 20110716 20110716 C T SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.726 p.S242 0.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 86 0 0 64 29 31.1828 DOK2 0 genome.wustl.edu 37 8 21767412 21767412 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 21767412 21767412 A C SNP DOK2 ENST00000276420 human ensembl 74_37 -1 known missense c.649 p.C217G 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 38 0 0 44 15 25.4237 HR 0 genome.wustl.edu 37 8 21978706 21978706 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 21978706 21978706 G A SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.2239 p.R747C 0.388 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 165 0 0 212 20 8.62069 PHYHIP 0 genome.wustl.edu 37 8 22079025 22079025 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 22079025 22079025 G A SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known silent c.834 p.H278 0.817 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 103 0 0 90 25 21.7391 POLR3D 0 genome.wustl.edu 37 8 22105999 22105999 + Nonsense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 22105999 22105999 C T SNP POLR3D ENST00000518039 human ensembl 74_37 +1 known nonsense c.367 p.R123* 0.660 NULL NULL - no_errors POLR3D HGNC ENSG00000168495 166 0 0 201 15 6.94444 POLR3D 0 genome.wustl.edu 37 8 22106136 22106136 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 22106136 22106136 T C SNP POLR3D ENST00000397802 human ensembl 74_37 +1 known missense c.629 p.M210T 1.000 NULL pfam_RPC4 - no_errors POLR3D HGNC ENSG00000168495 100 0 0 152 12 7.31707 ENSG00000253200 0 genome.wustl.edu 37 8 22473159 22473159 + RNA SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 22473159 22473159 G A SNP ENSG00000253200 ENST00000521025 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-582J16.5 Clone_based_vega_gene ENSG00000253200 28 0 0 38 6 13.6364 CCAR2 0 genome.wustl.edu 37 8 22476350 22476350 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 22476350 22476350 C A SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.2343 p.D781E 0.960 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 141 0 0 181 12 6.21762 ENTPD4 0 genome.wustl.edu 37 8 23294634 23294634 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 23294634 23294634 C T SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.1187 p.R396Q 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 77 0 0 74 20 21.2766 ADAM7 0 genome.wustl.edu 37 8 24349501 24349501 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 24349501 24349501 C A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.1442 p.P481H 0.969 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 87 0 0 88 24 21.4286 CHRNA2 0 genome.wustl.edu 37 8 27320543 27320543 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 27320543 27320543 C T SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known missense c.1417 p.V473M 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 CHRNA2 HGNC ENSG00000120903 155 0 0 172 14 7.52688 INTS9 0 genome.wustl.edu 37 8 28638343 28638343 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 28638343 28638343 T C SNP INTS9 ENST00000521022 human ensembl 74_37 -1 known missense c.1267 p.T423A 1.000 pfam_Beta_Casp pfam_Beta_Casp - no_errors INTS9 HGNC ENSG00000104299 59 0 0 65 4 5.7971 DCTN6 0 genome.wustl.edu 37 8 30032612 30032612 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 30032612 30032612 G A SNP DCTN6 ENST00000221114 human ensembl 74_37 +1 known missense c.100 p.V34M 1.000 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN6 HGNC ENSG00000104671 36 0 0 41 5 10.8696 WRN 0 genome.wustl.edu 37 8 30969166 30969166 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 30969166 30969166 T C SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.2124 p.S708 0.947 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 66 0 0 88 17 16.1905 WRN 0 genome.wustl.edu 37 8 30982058 30982058 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 30982058 30982058 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2651 p.R884H 0.000 pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 52 0 0 57 12 17.3913 UNC5D 0 genome.wustl.edu 37 8 35606112 35606112 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 35606112 35606112 G A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1834 p.V612I 0.994 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 116 0 0 137 30 17.9641 ANK1 0 genome.wustl.edu 37 8 41572500 41572500 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 41572500 41572500 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known silent c.1695 p.A565 0.027 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 90 0 0 79 19 19.3878 ANK1 0 genome.wustl.edu 37 8 41573238 41573238 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 41573238 41573238 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.1534 p.R512C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_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 81 0 0 76 18 19.1489 IKBKB 0 genome.wustl.edu 37 8 42173805 42173805 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 42173805 42173805 C T SNP IKBKB ENST00000520810 human ensembl 74_37 +1 known missense c.878 p.T293M 0.000 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_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 46 0 0 49 12 19.6721 PRKDC 0 genome.wustl.edu 37 8 48746928 48746928 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 48746928 48746928 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.7978 p.G2660R 1.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 91 0 0 128 7 5.18519 MCM4 0 genome.wustl.edu 37 8 48887453 48887453 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 48887453 48887453 C T SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.2296 p.R766W 0.998 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 97 0 0 98 9 8.41121 NPBWR1 0 genome.wustl.edu 37 8 53852656 53852656 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 53852656 53852656 G A SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known silent c.189 p.L63 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_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 40 0 0 38 5 11.6279 OPRK1 0 genome.wustl.edu 37 8 54141891 54141891 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 54141891 54141891 A G SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.1109 p.L370P 0.000 prints_Kappa_opi_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 100 0 0 104 10 8.77193 MOS 0 genome.wustl.edu 37 8 57025820 57025820 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 57025820 57025820 C T SNP MOS ENST00000311923 human ensembl 74_37 -1 known missense c.722 p.G241D 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 MOS HGNC ENSG00000172680 68 0 0 69 11 13.75 ENSG00000241431 0 genome.wustl.edu 37 8 57501081 57501081 + RNA SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 57501081 57501081 A G SNP ENSG00000241431 ENST00000464216 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-17A4.1 Clone_based_vega_gene ENSG00000241431 21 0 0 17 4 19.0476 CHD7 0 genome.wustl.edu 37 8 61654351 61654351 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 61654351 61654351 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.360 p.G120 0.937 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 36 0 0 27 3 10 RRS1 0 genome.wustl.edu 37 8 67342063 67342063 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 67342063 67342063 G T SNP RRS1 ENST00000320270 human ensembl 74_37 +1 known missense c.697 p.G233W 1.000 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 17 0 0 27 3 10 ARFGEF1 0 genome.wustl.edu 37 8 68140265 68140265 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 68140265 68140265 T C SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.3524 p.Y1175C 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 44 0 0 66 9 12 PREX2 0 genome.wustl.edu 37 8 69033268 69033268 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 69033268 69033268 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.3708 p.I1236 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 82 0 0 66 16 19.5122 TERF1 0 genome.wustl.edu 37 8 73934527 73934527 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 73934527 73934527 A C SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known missense c.614 p.N205T 0.054 pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom,pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 44 0 0 63 12 16 CNGB3 0 genome.wustl.edu 37 8 87683188 87683188 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 87683188 87683188 T G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.477 p.E159D 0.998 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 207 0 0 267 19 6.64336 RBM12B 0 genome.wustl.edu 37 8 94746270 94746270 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 94746270 94746270 G A SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known missense c.2369 p.P790L 0.247 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 50 0 0 62 13 17.3333 RAD54B 0 genome.wustl.edu 37 8 95419749 95419749 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 95419749 95419749 T G SNP RAD54B ENST00000336148 human ensembl 74_37 -1 known missense c.699 p.K233N 0.756 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 61 0 0 96 7 6.79612 NR4A3 0 genome.wustl.edu 37 9 102590657 102590657 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 102590657 102590657 G A SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known silent c.366 p.Q122 0.983 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 74 0 0 82 6 6.81818 DMRT2 0 genome.wustl.edu 37 9 1056535 1056535 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 1056535 1056535 T C SNP DMRT2 ENST00000302441 human ensembl 74_37 +1 known silent c.948 p.S316 1.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 69 0 0 77 20 20.6186 OR13C5 0 genome.wustl.edu 37 9 107361654 107361654 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 107361654 107361654 A G SNP OR13C5 ENST00000374779 human ensembl 74_37 -1 known missense c.41 p.L14P 0.026 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C5 HGNC ENSG00000255800 80 0 0 91 17 15.7407 ZNF462 0 genome.wustl.edu 37 9 109689883 109689883 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 109689883 109689883 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.3690 p.T1230 0.172 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 259 0 0 287 27 8.59873 ZNF462 0 genome.wustl.edu 37 9 109691126 109691126 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 109691126 109691126 T C SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.4933 p.S1645P 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 79 0 0 112 7 5.88235 EPB41L4B 0 genome.wustl.edu 37 9 112018740 112018740 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 112018740 112018740 G A SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.773 p.A258V 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 128 0 0 124 35 22.0126 PALM2-AKAP2 0 genome.wustl.edu 37 9 112900596 112900596 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 112900596 112900596 A G SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known silent c.2772 p.T924 0.976 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 57 0 0 70 4 5.40541 HDHD3 0 genome.wustl.edu 37 9 116136221 116136221 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 116136221 116136221 G A SNP HDHD3 ENST00000238379 human ensembl 74_37 -1 known silent c.414 p.D138 0.966 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_REG-2-like,tigrfam_HAD-SF_hydro_IA pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_REG-2-like,tigrfam_HAD-SF_hydro_IA - no_errors HDHD3 HGNC ENSG00000119431 350 0 0 294 94 24.2268 FOXD4 0 genome.wustl.edu 37 9 116842 116842 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 116842 116842 C T SNP FOXD4 ENST00000382500 human ensembl 74_37 -1 known silent c.1278 p.S426 0.001 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 26 0 0 33 3 8.33333 PAPPA 0 genome.wustl.edu 37 9 118950009 118950009 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 118950009 118950009 T C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.992 p.L331S 0.959 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 53 0 0 61 4 6.15385 MEGF9 0 genome.wustl.edu 37 9 123421695 123421695 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 123421695 123421695 A G SNP MEGF9 ENST00000426959 human ensembl 74_37 -1 known missense c.871 p.C291R 0.990 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 50 0 0 57 21 26.9231 PHF19 0 genome.wustl.edu 37 9 123636883 123636883 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 123636883 123636883 A G SNP PHF19 ENST00000373896 human ensembl 74_37 -1 known missense c.137 p.V46A 1.000 smart_Tudor pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 123 0 0 106 6 5.35714 C5 0 genome.wustl.edu 37 9 123787797 123787797 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 123787797 123787797 T C SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.935 p.Y312C 0.643 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 69 0 0 92 9 8.91089 OR1Q1 0 genome.wustl.edu 37 9 125377434 125377434 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 125377434 125377434 C T SNP OR1Q1 ENST00000297913 human ensembl 74_37 +1 known silent c.418 p.L140 0.011 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 OR1Q1 HGNC ENSG00000165202 124 0 0 163 9 5.23256 RABGAP1 0 genome.wustl.edu 37 9 125746881 125746881 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 125746881 125746881 G A SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.268 p.G90S 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 59 0 0 80 16 16.6667 OLFML2A 0 genome.wustl.edu 37 9 127563865 127563865 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 127563865 127563865 T A SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known missense c.842 p.L281Q 0.994 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 39 0 0 49 3 5.76923 PPP6C 0 genome.wustl.edu 37 9 127911974 127911974 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 127911974 127911974 G A SNP PPP6C ENST00000451402 human ensembl 74_37 -1 known missense c.1007 p.T336M 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP6C HGNC ENSG00000119414 60 0 0 73 19 20.6522 MVB12B 0 genome.wustl.edu 37 9 129148907 129148907 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 129148907 129148907 T C SNP MVB12B ENST00000361171 human ensembl 74_37 +1 known missense c.379 p.F127L 1.000 pfam_FAM125 pfam_FAM125 - no_errors MVB12B HGNC ENSG00000196814 47 0 0 55 7 11.2903 SLC2A8 0 genome.wustl.edu 37 9 130166038 130166038 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 130166038 130166038 G A SNP SLC2A8 ENST00000373371 human ensembl 74_37 +1 known missense c.823 p.V275I 0.133 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A8 HGNC ENSG00000136856 42 0 0 51 15 22.7273 PIP5KL1 0 genome.wustl.edu 37 9 130688241 130688241 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 130688241 130688241 C T SNP PIP5KL1 ENST00000300432 human ensembl 74_37 -1 known missense c.59 p.C20Y 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5KL1 HGNC ENSG00000167103 48 0 0 49 8 14.0351 LCN2 0 genome.wustl.edu 37 9 130911883 130911883 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 130911883 130911883 C A SNP LCN2 ENST00000372998 human ensembl 74_37 +1 known missense c.79 p.L27M 0.585 superfamily_Calycin-like,prints_N_gelatinase pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln - no_errors LCN2 HGNC ENSG00000148346 90 0 0 86 6 6.52174 CERCAM 0 genome.wustl.edu 37 9 131191243 131191243 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 131191243 131191243 G A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.998 p.R333H 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 19 0 0 22 7 24.1379 NTMT1 0 genome.wustl.edu 37 9 132396585 132396585 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 132396585 132396585 G T SNP NTMT1 ENST00000372480 human ensembl 74_37 +1 known missense c.415 p.G139C 1.000 pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC ENSG00000148335 93 0 0 116 7 5.69106 FNBP1 0 genome.wustl.edu 37 9 132741597 132741597 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 132741597 132741597 T G SNP FNBP1 ENST00000446176 human ensembl 74_37 -1 known missense c.197 p.K66T 1.000 pfam_FCH_dom,superfamily_Ribosomal_S20,smart_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 59 0 0 68 6 8.10811 GPR107 0 genome.wustl.edu 37 9 132866711 132866711 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 132866711 132866711 G A SNP GPR107 ENST00000372410 human ensembl 74_37 +1 known missense c.1144 p.V382I 1.000 pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt - no_errors GPR107 HGNC ENSG00000148358 60 0 0 64 22 25.5814 POMT1 0 genome.wustl.edu 37 9 134397547 134397547 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 134397547 134397547 G A SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.2005 p.A669T 0.998 NULL pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 108 1 0.917431 89 33 27.0492 BARHL1 0 genome.wustl.edu 37 9 135462770 135462770 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 135462770 135462770 G A SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known missense c.521 p.R174H 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 14 0 0 12 4 25 C9orf9 0 genome.wustl.edu 37 9 135762810 135762810 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 135762810 135762810 C T SNP C9orf9 ENST00000356311 human ensembl 74_37 +1 known missense c.199 p.L67F 1.000 NULL NULL - no_errors C9orf9 HGNC ENSG00000165698 169 0 0 147 42 22.2222 OBP2B 0 genome.wustl.edu 37 9 136083638 136083638 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136083638 136083638 C T SNP OBP2B ENST00000372032 human ensembl 74_37 -1 known silent c.78 p.G26 0.001 NULL NULL - no_errors OBP2B HGNC ENSG00000171102 40 0 0 36 9 20 SURF6 0 genome.wustl.edu 37 9 136198852 136198852 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136198852 136198852 G A SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known silent c.939 p.G313 0.000 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 15 0 0 12 4 25 RPL7A 0 genome.wustl.edu 37 9 136217826 136217826 + RNA SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136217826 136217826 A C SNP RPL7A ENST00000492798 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL7A HGNC ENSG00000148303 25 0 0 26 7 21.2121 C9orf96 0 genome.wustl.edu 37 9 136265620 136265620 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136265620 136265620 G A SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known silent c.1161 p.L387 0.142 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 98 0 0 79 24 23.301 ADAMTS13 0 genome.wustl.edu 37 9 136319618 136319618 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136319618 136319618 C T SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known silent c.3126 p.L1042 0.000 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 89 0 0 75 20 21.0526 ADAMTS13 0 genome.wustl.edu 37 9 136319619 136319619 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136319619 136319619 G A SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.3127 p.D1043N 0.000 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 89 0 0 68 25 26.8817 SARDH 0 genome.wustl.edu 37 9 136595252 136595252 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136595252 136595252 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.748 p.R250W 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 144 0 0 118 28 19.1781 SARDH 0 genome.wustl.edu 37 9 136599205 136599205 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136599205 136599205 C T SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.91 p.A31T 0.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 31 0 0 30 3 9.09091 VAV2 0 genome.wustl.edu 37 9 136662843 136662843 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136662843 136662843 G A SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known nonsense c.925 p.Q309* 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 40 0 0 31 9 22.5 OLFM1 0 genome.wustl.edu 37 9 137982158 137982158 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 137982158 137982158 C T SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.268 p.R90C 1.000 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 63 0 0 59 8 11.9403 OBP2A 0 genome.wustl.edu 37 9 138438712 138438712 + Missense_Mutation SNP T T G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 138438712 138438712 T G SNP OBP2A ENST00000340780 human ensembl 74_37 +1 known missense c.161 p.V54G 0.001 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2A HGNC ENSG00000122136 53 0 0 45 11 19.6429 KCNT1 0 genome.wustl.edu 37 9 138656935 138656935 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 138656935 138656935 G A SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.1094 p.R365H 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 42 0 0 42 10 19.2308 GPSM1 0 genome.wustl.edu 37 9 139250158 139250158 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 139250158 139250158 C T SNP GPSM1 ENST00000440944 human ensembl 74_37 +1 known missense c.1472 p.P491L 0.997 NULL pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 80 0 0 85 13 13.2653 CARD9 0 genome.wustl.edu 37 9 139262099 139262099 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 139262099 139262099 G A SNP CARD9 ENST00000371732 human ensembl 74_37 -1 known missense c.1259 p.T420M 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 11 0 0 9 5 35.7143 SEC16A 0 genome.wustl.edu 37 9 139370070 139370070 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 139370070 139370070 C T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.1998 p.M666I 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 33 0 0 36 3 7.69231 NOTCH1 0 genome.wustl.edu 37 9 139393707 139393707 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 139393707 139393707 A G SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.5939 p.L1980P 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,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 57 0 0 56 4 6.66667 NOTCH1 0 genome.wustl.edu 37 9 139411769 139411769 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 139411769 139411769 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.1510 p.R504C 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_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 34 0 0 20 5 20 FAM69B 0 genome.wustl.edu 37 9 139616709 139616709 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 139616709 139616709 A G SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known missense c.439 p.T147A 1.000 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 23 0 0 45 3 6.25 C9orf142 0 genome.wustl.edu 37 9 139888236 139888236 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 139888236 139888236 C T SNP C9orf142 ENST00000371620 human ensembl 74_37 +1 known silent c.594 p.G198 0.549 NULL NULL - no_errors C9orf142 HGNC ENSG00000148362 69 0 0 48 13 21.3115 ANAPC2 0 genome.wustl.edu 37 9 140069716 140069716 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 140069716 140069716 C A SNP ANAPC2 ENST00000323927 human ensembl 74_37 -1 known missense c.2229 p.Q743H 1.000 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 38 0 0 39 3 7.14286 ENTPD8 0 genome.wustl.edu 37 9 140329487 140329487 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 140329487 140329487 G A SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known missense c.1367 p.A456V 0.151 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 46 0 0 51 10 16.3934 PNPLA7 0 genome.wustl.edu 37 9 140356813 140356813 + RNA SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 140356813 140356813 T A SNP PNPLA7 ENST00000492278 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors PNPLA7 HGNC ENSG00000130653 65 0 0 65 20 23.5294 FREM1 0 genome.wustl.edu 37 9 14859265 14859265 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 14859265 14859265 G T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.547 p.P183T 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 104 0 0 108 6 5.26316 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 108 0 0 181 12 6.21762 CNTLN 0 genome.wustl.edu 37 9 17466781 17466781 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 17466781 17466781 T C SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known silent c.3747 p.S1249 0.974 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 60 0 0 84 7 7.69231 FAM154A 0 genome.wustl.edu 37 9 18928992 18928992 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 18928992 18928992 C T SNP FAM154A ENST00000380534 human ensembl 74_37 -1 known silent c.483 p.Q161 0.872 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 79 0 0 83 10 10.7527 SMARCA2 0 genome.wustl.edu 37 9 2186173 2186173 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 2186173 2186173 G T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.4539 p.E1513D 0.999 superfamily_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 62 0 0 73 7 8.75 RFX3 0 genome.wustl.edu 37 9 3248157 3248157 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 3248157 3248157 G A SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known missense c.1843 p.R615C 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 40 0 0 42 3 6.66667 DDX58 0 genome.wustl.edu 37 9 32492458 32492458 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 32492458 32492458 G A SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.502 p.P168S 1.000 superfamily_P-loop_NTPase pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 61 0 0 75 6 7.40741 TAF1L 0 genome.wustl.edu 37 9 32632915 32632915 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 32632915 32632915 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.2663 p.R888H 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 141 0 0 148 34 18.6813 APTX 0 genome.wustl.edu 37 9 32984853 32984853 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 32984853 32984853 A G SNP APTX ENST00000379819 human ensembl 74_37 -1 known silent c.588 p.V196 1.000 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_HIT-like - no_errors APTX HGNC ENSG00000137074 53 0 0 74 8 9.7561 NFX1 0 genome.wustl.edu 37 9 33294870 33294870 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 33294870 33294870 G A SNP NFX1 ENST00000379540 human ensembl 74_37 +1 known missense c.478 p.G160S 0.030 NULL pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 59 0 0 87 18 17.1429 NOL6 0 genome.wustl.edu 37 9 33466695 33466695 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 33466695 33466695 C A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.1963 p.G655C 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 58 0 0 66 8 10.8108 NOL6 0 genome.wustl.edu 37 9 33469527 33469527 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 33469527 33469527 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known silent c.697 p.L233 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 115 0 0 133 8 5.67376 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 17 0 0 21 3 12.5 PRSS3 0 genome.wustl.edu 37 9 33797977 33797977 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 33797977 33797977 C T SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known silent c.522 p.A174 0.056 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 120 0 0 142 30 17.4419 KIF24 0 genome.wustl.edu 37 9 34256530 34256530 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 34256530 34256530 G A SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known silent c.3075 p.N1025 0.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 125 1 0.793651 116 43 27.044 KIF24 0 genome.wustl.edu 37 9 34286630 34286630 + Silent SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 34286630 34286630 C A SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known silent c.1200 p.V400 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 70 0 0 64 19 22.8916 KIAA1161 0 genome.wustl.edu 37 9 34372050 34372050 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 34372050 34372050 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.790 p.R264C 1.000 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 42 0 0 31 11 26.1905 UNC13B 0 genome.wustl.edu 37 9 35377503 35377503 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 35377503 35377503 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.1627 p.R543W 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_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 UNC13B HGNC ENSG00000198722 75 0 0 101 7 6.48148 CA9 0 genome.wustl.edu 37 9 35680810 35680810 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 35680810 35680810 T C SNP CA9 ENST00000378357 human ensembl 74_37 +1 known missense c.1298 p.V433A 0.996 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 72 0 0 90 16 15.0943 CREB3 0 genome.wustl.edu 37 9 35736119 35736119 + Missense_Mutation SNP C C G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 35736119 35736119 C G SNP CREB3 ENST00000353704 human ensembl 74_37 +1 known missense c.686 p.T229S 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 100 1 0.990099 129 10 7.19424 NPR2 0 genome.wustl.edu 37 9 35793058 35793058 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 35793058 35793058 G A SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.653 p.R218Q 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 29 0 0 33 13 28.2609 NPR2 0 genome.wustl.edu 37 9 35801943 35801943 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 35801943 35801943 G A SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known silent c.1578 p.S526 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 133 0 0 108 51 32.0755 RECK 0 genome.wustl.edu 37 9 36117105 36117105 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 36117105 36117105 C T SNP RECK ENST00000377966 human ensembl 74_37 +1 known silent c.2184 p.H728 0.862 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 55 0 0 57 13 18.5714 CCIN 0 genome.wustl.edu 37 9 36170316 36170316 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 36170316 36170316 C T SNP CCIN ENST00000335119 human ensembl 74_37 +1 known missense c.817 p.R273W 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 52 0 0 49 9 15.5172 MELK 0 genome.wustl.edu 37 9 36657353 36657353 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 36657353 36657353 C T SNP MELK ENST00000298048 human ensembl 74_37 +1 known missense c.1169 p.T390I 0.996 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,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 MELK HGNC ENSG00000165304 66 0 0 77 5 6.09756 GLIS3 0 genome.wustl.edu 37 9 4117861 4117861 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 4117861 4117861 G A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.1617 p.A539 0.039 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 99 0 0 122 10 7.57576 AK3 0 genome.wustl.edu 37 9 4719173 4719173 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 4719173 4719173 G A SNP AK3 ENST00000381809 human ensembl 74_37 -1 known nonsense c.406 p.R136* 1.000 pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 115 1 0.862069 93 44 32.1168 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 52 0 0 76 17 18.2796 KANK1 0 genome.wustl.edu 37 9 711848 711848 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 711848 711848 C T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.1082 p.T361M 0.924 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 55 0 0 39 5 11.3636 APBA1 0 genome.wustl.edu 37 9 72131597 72131597 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 72131597 72131597 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.530 p.R177H 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 13 0 0 15 4 21.0526 TMEM261 0 genome.wustl.edu 37 9 7798586 7798586 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 7798586 7798586 T C SNP TMEM261 ENST00000358227 human ensembl 74_37 -1 known missense c.326 p.Y109C 0.050 NULL NULL - no_errors TMEM261 HGNC ENSG00000137038 105 0 0 107 10 8.54701 FOXB2 0 genome.wustl.edu 37 9 79635083 79635083 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 79635083 79635083 G A SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known silent c.513 p.P171 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 22 0 0 13 3 18.75 TLE1 0 genome.wustl.edu 37 9 84226773 84226773 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 84226773 84226773 C T SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known missense c.1165 p.A389T 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 45 0 0 48 10 17.2414 SLC28A3 0 genome.wustl.edu 37 9 86900448 86900448 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 86900448 86900448 A C SNP SLC28A3 ENST00000376238 human ensembl 74_37 -1 known missense c.1459 p.S487A 1.000 pfam_Nucleos_tra2_C,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 SLC28A3 HGNC ENSG00000197506 47 0 0 102 6 5.55556 DAPK1 0 genome.wustl.edu 37 9 90220046 90220046 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 90220046 90220046 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.240 p.H80 0.683 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 120 1 0.826446 130 9 6.47482 ANKRD19P 0 genome.wustl.edu 37 9 95599890 95599890 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 95599890 95599890 C T SNP ANKRD19P ENST00000464387 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ANKRD19P HGNC ENSG00000187984 49 0 0 38 10 20.8333 ERCC6L2 0 genome.wustl.edu 37 9 98684626 98684626 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 98684626 98684626 A G SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.805 p.S269G 1.000 pfam_SNF2_N,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 46 0 0 53 7 11.6667 NUTM2G 0 genome.wustl.edu 37 9 99694495 99694495 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 99694495 99694495 G A SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known missense c.508 p.V170M 0.000 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 71 0 0 103 6 5.50459 NUTM2G 0 genome.wustl.edu 37 9 99697671 99697671 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 99697671 99697671 C T SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known missense c.775 p.R259W 0.030 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 138 0 0 102 45 30.6122 CSTF2 0 genome.wustl.edu 37 X 100078931 100078931 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 100078931 100078931 A T SNP CSTF2 ENST00000415585 human ensembl 74_37 +1 known missense c.501 p.Q167H 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 154 0 0 142 12 7.79221 TRMT2B 0 genome.wustl.edu 37 X 100292924 100292924 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 100292924 100292924 G T SNP TRMT2B ENST00000372935 human ensembl 74_37 -1 known silent c.420 p.L140 1.000 NULL pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 397 0 0 277 94 25.3369 TMEM35 0 genome.wustl.edu 37 X 100349693 100349693 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 100349693 100349693 G A SNP TMEM35 ENST00000372930 human ensembl 74_37 +1 known silent c.252 p.G84 0.383 NULL NULL - no_errors TMEM35 HGNC ENSG00000126950 197 0 0 155 10 6.06061 CENPI 0 genome.wustl.edu 37 X 100400187 100400187 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 100400187 100400187 A C SNP CENPI ENST00000372927 human ensembl 74_37 +1 known missense c.1700 p.K567T 0.638 NULL pfam_CENP-I - no_errors CENPI HGNC ENSG00000102384 147 0 0 118 9 7.08661 ARMCX3 0 genome.wustl.edu 37 X 100880023 100880023 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 100880023 100880023 T C SNP ARMCX3 ENST00000341189 human ensembl 74_37 +1 known silent c.54 p.A18 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ENSG00000102401 73 0 0 73 8 9.87654 GLRA4 0 genome.wustl.edu 37 X 102962291 102962291 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 102962291 102962291 C T SNP GLRA4 ENST00000372617 human ensembl 74_37 -1 known missense c.1235 p.R412Q 1.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 87 0 0 58 19 24.6753 TEX13A 0 genome.wustl.edu 37 X 104464985 104464985 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 104464985 104464985 C T SNP TEX13A ENST00000413579 human ensembl 74_37 -1 known missense c.97 p.E33K 0.584 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 75 0 0 53 10 15.873 RNF128 0 genome.wustl.edu 37 X 105970509 105970509 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 105970509 105970509 C T SNP RNF128 ENST00000255499 human ensembl 74_37 +1 known silent c.366 p.R122 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 67 0 0 49 17 25.7576 MORC4 0 genome.wustl.edu 37 X 106184843 106184843 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 106184843 106184843 G A SNP MORC4 ENST00000355610 human ensembl 74_37 -1 known missense c.2680 p.R894W 0.976 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 62 0 0 30 17 36.1702 COL4A5 0 genome.wustl.edu 37 X 107866040 107866040 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 107866040 107866040 G A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.2902 p.E968K 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 46 0 0 49 15 23.4375 IRS4 0 genome.wustl.edu 37 X 107976205 107976205 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 107976205 107976205 C T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.3370 p.A1124T 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 86 0 0 65 8 10.9589 IRS4 0 genome.wustl.edu 37 X 107979509 107979509 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 107979509 107979509 T C SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.66 p.A22 0.927 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 85 0 0 38 22 36.6667 GUCY2F 0 genome.wustl.edu 37 X 108708392 108708392 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 108708392 108708392 A G SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.1011 p.P337 0.127 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 156 0 0 150 9 5.66038 RGAG1 0 genome.wustl.edu 37 X 109694908 109694908 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 109694908 109694908 C A SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known missense c.1063 p.P355T 0.000 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 348 0 0 317 25 7.30994 RGAG1 0 genome.wustl.edu 37 X 109696506 109696506 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 109696506 109696506 A G SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.2661 p.L887 0.000 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 215 0 0 212 13 5.77778 MSL3 0 genome.wustl.edu 37 X 11778460 11778460 + Splice_Site SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 11778460 11778460 T C SNP MSL3 ENST00000483645 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors MSL3 HGNC ENSG00000005302 23 0 0 14 5 26.3158 IL13RA1 0 genome.wustl.edu 37 X 117907898 117907898 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 117907898 117907898 G A SNP IL13RA1 ENST00000371666 human ensembl 74_37 +1 known missense c.1066 p.V356I 0.000 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA1 HGNC ENSG00000131724 222 0 0 181 57 23.9496 KIAA1210 0 genome.wustl.edu 37 X 118222607 118222607 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 118222607 118222607 A G SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.2586 p.T862 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 34 0 0 32 3 8.57143 SLC25A5 0 genome.wustl.edu 37 X 118603924 118603924 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 118603924 118603924 C T SNP SLC25A5 ENST00000317881 human ensembl 74_37 +1 known missense c.412 p.R138C 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,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 131 0 0 142 14 8.97436 GRIA3 0 genome.wustl.edu 37 X 122538696 122538696 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 122538696 122538696 C T SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known silent c.1431 p.D477 0.623 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 228 1 0.436681 237 14 5.57769 DCAF12L2 0 genome.wustl.edu 37 X 125299634 125299634 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 125299634 125299634 G T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.274 p.L92M 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 DCAF12L2 HGNC ENSG00000198354 73 0 0 52 10 16.129 DCAF12L1 0 genome.wustl.edu 37 X 125686437 125686437 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 125686437 125686437 G A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.155 p.A52V 0.400 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 77 0 0 71 17 19.3182 GPR112 0 genome.wustl.edu 37 X 135390962 135390962 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 135390962 135390962 A C SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.26 p.K9T 0.931 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 150 0 0 140 13 8.49673 BRS3 0 genome.wustl.edu 37 X 135574170 135574170 + Missense_Mutation SNP T T A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 135574170 135574170 T A SNP BRS3 ENST00000370648 human ensembl 74_37 +1 known missense c.836 p.L279Q 1.000 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_GPCR_Rhodpsn 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_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC ENSG00000102239 141 0 0 94 34 26.5625 OFD1 0 genome.wustl.edu 37 X 13785292 13785292 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 13785292 13785292 A G SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.2646 p.I882M 0.000 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 80 0 0 70 5 6.66667 GPM6B 0 genome.wustl.edu 37 X 13803832 13803832 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 13803832 13803832 C T SNP GPM6B ENST00000316715 human ensembl 74_37 -1 known missense c.277 p.G93S 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 73 0 0 42 21 33.3333 MAGEC3 0 genome.wustl.edu 37 X 140985571 140985571 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 140985571 140985571 G A SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.1885 p.A629T 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 128 0 0 88 20 18.5185 SLITRK2 0 genome.wustl.edu 37 X 144905442 144905442 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 144905442 144905442 A G SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1499 p.N500S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 146 0 0 122 11 8.27068 MIR506 0 genome.wustl.edu 37 X 146312328 146312328 + RNA SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 146312328 146312328 A C SNP MIR506 ENST00000384998 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR506 HGNC ENSG00000207731 147 0 0 81 38 31.9328 AFF2 0 genome.wustl.edu 37 X 148049194 148049194 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 148049194 148049194 A C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.3239 p.K1080T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 59 0 0 49 7 12.5 MAGEA12 0 genome.wustl.edu 37 X 151900176 151900176 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 151900176 151900176 T C SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known missense c.625 p.I209V 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 221 0 0 230 17 6.88259 ATP2B3 0 genome.wustl.edu 37 X 152818575 152818575 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 152818575 152818575 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.1906 p.E636K 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 76 0 0 56 18 24.3243 ABCD1 0 genome.wustl.edu 37 X 153006123 153006123 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 153006123 153006123 A G SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.1730 p.E577G 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,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 ABCD1 HGNC ENSG00000101986 170 0 0 136 11 7.48299 PLXNB3 0 genome.wustl.edu 37 X 153038720 153038720 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 153038720 153038720 G A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.3011 p.R1004H 0.712 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 47 0 0 24 7 22.5806 HCFC1 0 genome.wustl.edu 37 X 153225829 153225829 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 153225829 153225829 A G SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.941 p.L314P 0.998 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 42 0 0 38 5 11.6279 IRAK1 0 genome.wustl.edu 37 X 153281508 153281508 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 153281508 153281508 G A SNP IRAK1 ENST00000369980 human ensembl 74_37 -1 known missense c.1277 p.T426M 0.001 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK1 HGNC ENSG00000184216 131 0 0 68 27 28.4211 PIGA 0 genome.wustl.edu 37 X 15349630 15349630 + Silent SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 15349630 15349630 G A SNP PIGA ENST00000333590 human ensembl 74_37 -1 known silent c.423 p.H141 1.000 pfam_PIGA_GPI_anchor_biosynthesis pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 49 0 0 41 25 37.8788 TKTL1 0 genome.wustl.edu 37 X 153539311 153539311 + Nonsense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 153539311 153539311 G T SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known nonsense c.475 p.G159* 1.000 pfam_Transketolase_N,pfam_DH_E1 pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 102 0 0 73 11 13.0952 RAB39B 0 genome.wustl.edu 37 X 154490316 154490316 + Silent SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 154490316 154490316 G T SNP RAB39B ENST00000369454 human ensembl 74_37 -1 known silent c.414 p.A138 0.962 pfam_Small_GTPase,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39B HGNC ENSG00000155961 80 0 0 72 16 18.1818 RAB39B 0 genome.wustl.edu 37 X 154493486 154493486 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 154493486 154493486 C T SNP RAB39B ENST00000369454 human ensembl 74_37 -1 known missense c.88 p.E30K 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 RAB39B HGNC ENSG00000155961 223 0 0 153 38 19.8953 ACE2 0 genome.wustl.edu 37 X 15596275 15596275 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 15596275 15596275 C T SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.1234 p.A412T 1.000 pfam_Peptidase_M2,prints_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 79 0 0 100 9 8.25688 AKAP17A 0 genome.wustl.edu 37 X 1719900 1719900 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 1719900 1719900 G A SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known missense c.1501 p.A501T 0.000 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 9 0 0 12 3 20 BEND2 0 genome.wustl.edu 37 X 18221757 18221757 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 18221757 18221757 T C SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known silent c.771 p.V257 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 142 1 0.699301 100 11 9.90991 RS1 0 genome.wustl.edu 37 X 18660170 18660170 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 18660170 18660170 A C SNP RS1 ENST00000379984 human ensembl 74_37 -1 known missense c.629 p.I210S 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,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 130 0 0 68 14 17.0732 GPR64 0 genome.wustl.edu 37 X 19031936 19031936 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 19031936 19031936 C T SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.967 p.E323K 0.002 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 181 0 0 156 25 13.8122 GPR64 0 genome.wustl.edu 37 X 19041547 19041547 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 19041547 19041547 C T SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.535 p.A179T 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 56 0 0 43 4 8.51064 PDHA1 0 genome.wustl.edu 37 X 19375712 19375712 + RNA SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 19375712 19375712 G T SNP PDHA1 ENST00000478795 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDHA1 HGNC ENSG00000131828 169 1 0.588235 149 15 9.14634 CNKSR2 0 genome.wustl.edu 37 X 21627197 21627197 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 21627197 21627197 C T SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known silent c.2154 p.C718 0.976 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 40 0 0 42 4 8.69565 MAGEB18 0 genome.wustl.edu 37 X 26157824 26157824 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 26157824 26157824 G T SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.722 p.R241M 0.005 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 37 0 0 27 3 10 ARSD 0 genome.wustl.edu 37 X 2840009 2840009 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 2840009 2840009 G A SNP ARSD ENST00000381154 human ensembl 74_37 -1 known missense c.251 p.A84V 0.991 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 71 0 0 37 17 31.4815 IL1RAPL1 0 genome.wustl.edu 37 X 29973260 29973260 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 29973260 29973260 C T SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.1414 p.R472W 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 148 0 0 64 29 31.1828 IL1RAPL1 0 genome.wustl.edu 37 X 29973572 29973572 + Missense_Mutation SNP A A T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 29973572 29973572 A T SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.1726 p.S576C 1.000 NULL pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 38 0 0 33 6 15.3846 TAB3 0 genome.wustl.edu 37 X 30849602 30849602 + Missense_Mutation SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 30849602 30849602 A G SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known missense c.2081 p.F694S 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 38 0 0 31 3 8.82353 FAM47B 0 genome.wustl.edu 37 X 34961020 34961020 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 34961020 34961020 A G SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known silent c.72 p.K24 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 22 0 0 25 4 13.7931 PRKX 0 genome.wustl.edu 37 X 3573188 3573188 + Splice_Site SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 3573188 3573188 A G SNP PRKX ENST00000262848 human ensembl 74_37 -1 known splice_site c.599+2 e3+2 0.993 - - - no_errors PRKX HGNC ENSG00000183943 119 0 0 111 12 9.7561 USP9X 0 genome.wustl.edu 37 X 41089041 41089041 + Silent SNP A A G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 41089041 41089041 A G SNP USP9X ENST00000324545 human ensembl 74_37 +1 known silent c.7440 p.K2480 0.145 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 73 0 0 48 29 37.6623 ZNF157 0 genome.wustl.edu 37 X 47269695 47269695 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 47269695 47269695 T C SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known silent c.93 p.D31 0.440 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 185 0 0 161 13 7.47126 SYN1 0 genome.wustl.edu 37 X 47478894 47478894 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 47478894 47478894 C T SNP SYN1 ENST00000295987 human ensembl 74_37 -1 known silent c.234 p.S78 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 17 0 0 16 4 20 ELK1 0 genome.wustl.edu 37 X 47498485 47498485 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 47498485 47498485 G A SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known missense c.463 p.R155C 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 11 0 0 7 3 30 TBC1D25 0 genome.wustl.edu 37 X 48417710 48417710 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 48417710 48417710 C T SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known silent c.681 p.G227 0.102 superfamily_Rab-GTPase-TBC_dom,smart_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 TBC1D25 HGNC ENSG00000068354 32 0 0 20 5 20 HDAC6 0 genome.wustl.edu 37 X 48681196 48681196 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 48681196 48681196 G A SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.2546 p.R849Q 0.136 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 55 0 0 32 12 27.2727 CCNB3 0 genome.wustl.edu 37 X 50052659 50052659 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 50052659 50052659 C T SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.1490 p.T497I 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 38 0 0 47 5 9.61538 ENSG00000232593 0 genome.wustl.edu 37 X 53172242 53172242 + RNA SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 53172242 53172242 C T SNP ENSG00000232593 ENST00000604849 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-258C19.5 Clone_based_vega_gene ENSG00000232593 164 0 0 109 46 29.6774 KDM5C 0 genome.wustl.edu 37 X 53247093 53247093 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 53247093 53247093 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.407 p.R136Q 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd 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 44 0 0 46 5 9.80392 SMC1A 0 genome.wustl.edu 37 X 53436412 53436412 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 53436412 53436412 C T SNP SMC1A ENST00000322213 human ensembl 74_37 -1 known missense c.1277 p.R426Q 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 136 0 0 88 35 28.4553 HUWE1 0 genome.wustl.edu 37 X 53586416 53586416 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 53586416 53586416 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.7814 p.R2605H 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 67 0 0 37 29 43.9394 PHF8 0 genome.wustl.edu 37 X 54044103 54044103 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 54044103 54044103 G A SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.553 p.H185Y 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 PHF8 HGNC ENSG00000172943 75 0 0 53 15 22.0588 FAM120C 0 genome.wustl.edu 37 X 54162023 54162023 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 54162023 54162023 T C SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.1273 p.R425G 0.961 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 23 0 0 22 7 24.1379 FGD1 0 genome.wustl.edu 37 X 54482797 54482797 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 54482797 54482797 C A SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known missense c.1698 p.E566D 0.997 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 43 0 0 49 3 5.76923 FGD1 0 genome.wustl.edu 37 X 54482983 54482983 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 54482983 54482983 C T SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known missense c.1654 p.A552T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 58 0 0 42 7 14.2857 PAGE2 0 genome.wustl.edu 37 X 55116967 55116967 + Missense_Mutation SNP A A C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 55116967 55116967 A C SNP PAGE2 ENST00000374968 human ensembl 74_37 +1 known missense c.117 p.E39D 0.001 pfam_GAGE pfam_GAGE - no_errors PAGE2 HGNC ENSG00000234068 37 0 0 31 4 11.4286 USP51 0 genome.wustl.edu 37 X 55515232 55515232 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 55515232 55515232 C T SNP USP51 ENST00000500968 human ensembl 74_37 -1 known silent c.141 p.A47 0.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 49 0 0 33 10 23.2558 ZXDB 0 genome.wustl.edu 37 X 57619668 57619668 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 57619668 57619668 C T SNP ZXDB ENST00000374888 human ensembl 74_37 +1 known missense c.1187 p.A396V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 66 0 0 77 24 23.7624 VCX3A 0 genome.wustl.edu 37 X 6451812 6451812 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 6451812 6451812 C T SNP VCX3A ENST00000381089 human ensembl 74_37 -1 known missense c.535 p.E179K 0.546 NULL NULL - no_errors VCX3A HGNC ENSG00000169059 291 1 0.342466 206 73 26.1649 FAM155B 0 genome.wustl.edu 37 X 68748853 68748853 + Nonsense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 68748853 68748853 G A SNP FAM155B ENST00000252338 human ensembl 74_37 +1 known nonsense c.879 p.W293* 1.000 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 48 0 0 44 7 13.7255 NLGN3 0 genome.wustl.edu 37 X 70384072 70384072 + Silent SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 70384072 70384072 C T SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known silent c.807 p.S269 0.984 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 55 0 0 62 6 8.82353 STS 0 genome.wustl.edu 37 X 7177678 7177678 + Missense_Mutation SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 7177678 7177678 T C SNP STS ENST00000217961 human ensembl 74_37 +1 known missense c.686 p.L229P 0.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 74 0 0 68 7 9.33333 CDX4 0 genome.wustl.edu 37 X 72667571 72667571 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 72667571 72667571 G A SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known missense c.482 p.R161H 1.000 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 122 0 0 77 10 11.4943 ATRX 0 genome.wustl.edu 37 X 76937066 76937066 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 76937066 76937066 G A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.3682 p.P1228S 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 157 1 0.632911 150 43 22.2798 PGK1 0 genome.wustl.edu 37 X 77381299 77381299 + Missense_Mutation SNP C C A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 77381299 77381299 C A SNP PGK1 ENST00000373316 human ensembl 74_37 +1 known missense c.1226 p.P409H 1.000 superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 421 0 0 340 36 9.57447 VCX 0 genome.wustl.edu 37 X 7811949 7811949 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 7811949 7811949 G T SNP VCX ENST00000381059 human ensembl 74_37 +1 known missense c.513 p.E171D 0.996 NULL NULL - no_errors VCX HGNC ENSG00000182583 194 0 0 170 19 10.0529 SH3BGRL 0 genome.wustl.edu 37 X 80532615 80532615 + Missense_Mutation SNP G G A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 80532615 80532615 G A SNP SH3BGRL ENST00000373212 human ensembl 74_37 +1 known missense c.178 p.A60T 1.000 pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL HGNC ENSG00000131171 56 0 0 44 6 12 KAL1 0 genome.wustl.edu 37 X 8522075 8522075 + Silent SNP T T C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 8522075 8522075 T C SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known silent c.1272 p.R424 0.028 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 44 0 0 36 7 16.2791 FAM133A 0 genome.wustl.edu 37 X 92964422 92964422 + Missense_Mutation SNP G G T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 92964422 92964422 G T SNP FAM133A ENST00000322139 human ensembl 74_37 +1 known missense c.4 p.G2W 0.026 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 24 0 0 23 5 17.8571 PCDH19 0 genome.wustl.edu 37 X 99663156 99663156 + Missense_Mutation SNP C C T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 99663156 99663156 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.440 p.R147H 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 139 0 0 102 42 29.1667 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 102 0 0 106 12 10.1695 VCAM1 0 genome.wustl.edu 37 1 101203693 101203694 + Frame_Shift_Del DEL AA AA - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 101203693 101203694 AA - DEL VCAM1 ENST00000294728 human ensembl 74_37 +1 known frame_shift_del c.2074_2075 p.K692fs 0.000:0.011 NULL pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 197 0 0 207 41 16.5323 CSF1 0 genome.wustl.edu 37 1 110466431 110466431 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 110466431 110466431 C - DEL CSF1 ENST00000329608 human ensembl 74_37 +1 known frame_shift_del c.1188 p.P398fs 0.001 pfam_MCSF-1,pirsf_MCSF-1 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 - no_errors CSF1 HGNC ENSG00000184371 88 0 0 88 5 5.37634 ENSG00000226849 0 genome.wustl.edu 37 1 11132250 11132251 + RNA INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 11132250 11132251 - A INS ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 41 0 0 39 12 23.5294 ADORA3 0 genome.wustl.edu 37 1 112028335 112028335 + RNA DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 112028335 112028335 C - DEL ADORA3 ENST00000472933 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADORA3 HGNC ENSG00000121933 39 0 0 47 10 17.5439 SYCP1 0 genome.wustl.edu 37 1 115520223 115520224 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 115520223 115520224 - A INS SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_ins c.2368_2369 p.D793fs 0.772:0.777 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 16 0 0 10 4 28.5714 SYCP1 0 genome.wustl.edu 37 1 115527421 115527421 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 115527421 115527421 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2635 p.K881fs 0.018 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 109 0 0 125 13 9.42029 CA14 0 genome.wustl.edu 37 1 150234562 150234563 + Frame_Shift_Del DEL CT CT - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 150234562 150234563 CT - DEL CA14 ENST00000369111 human ensembl 74_37 +1 known frame_shift_del c.262_263 p.L90fs 1.000:1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 162 0 0 141 10 6.62252 HORMAD1 0 genome.wustl.edu 37 1 150686529 150686529 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 150686529 150686529 A - DEL HORMAD1 ENST00000476530 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors HORMAD1 HGNC ENSG00000143452 62 0 0 66 21 24.1379 KCNN3 0 genome.wustl.edu 37 1 154842106 154842106 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 154842106 154842106 G - DEL KCNN3 ENST00000271915 human ensembl 74_37 -1 novel frame_shift_del c.335 p.P112fs 0.918 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 36 0 0 20 3 13.0435 TRIM46 0 genome.wustl.edu 37 1 155150501 155150501 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 155150501 155150501 G - DEL TRIM46 ENST00000334634 human ensembl 74_37 +1 known frame_shift_del c.933 p.E312fs 0.995 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 68 0 0 43 9 17.3077 HDGF 0 genome.wustl.edu 37 1 156715104 156715104 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 156715104 156715104 A - DEL HDGF ENST00000368206 human ensembl 74_37 -1 known frame_shift_del c.197 p.F66fs 1.000 pfam_PWWP_dom pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 40 0 0 20 9 31.0345 ARHGEF11 0 genome.wustl.edu 37 1 156939121 156939121 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 156939121 156939121 C - DEL ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known frame_shift_del c.778 p.D260fs 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 27 0 0 26 3 10.3448 DCAF8 0 genome.wustl.edu 37 1 160249609 160249609 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 160249609 160249609 T - DEL DCAF8 ENST00000608310 human ensembl 74_37 -1 known frame_shift_del c.357 p.E120fs 1.000 pfam_Pex19 pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 52 0 0 76 4 5 ALDH9A1 0 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ENSG00000143149 22 0 0 23 9 28.125 PRRC2C 0 genome.wustl.edu 37 1 171491345 171491347 + In_Frame_Del DEL TCC TCC - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 171491345 171491347 TCC - DEL PRRC2C ENST00000392078 human ensembl 74_37 +1 known in_frame_del c.780_782 p.P262in_frame_del 1.000:1.000:1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 90 0 0 104 15 12.605 HMCN1 0 genome.wustl.edu 37 1 186024782 186024782 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 186024782 186024782 A - DEL HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_del c.7120 p.K2375fs 1.000 pfam_Ig_I-set,smart_Ig_sub,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 158 0 0 153 12 7.27273 RNPEP 0 genome.wustl.edu 37 1 201966518 201966518 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 201966518 201966518 C - DEL RNPEP ENST00000295640 human ensembl 74_37 +1 known frame_shift_del c.926 p.C311fs 0.999 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 200 0 0 147 9 5.76923 USP48 0 genome.wustl.edu 37 1 22084139 22084139 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 22084139 22084139 A - DEL USP48 ENST00000489108 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP48 HGNC ENSG00000090686 54 0 0 46 10 17.8571 DUSP10 0 genome.wustl.edu 37 1 221875662 221875663 + RNA DEL AA AA - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 221875662 221875663 AA - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.067 - - - no_errors DUSP10 HGNC ENSG00000143507 17 0 0 18 13 41.9355 CAPN2 0 genome.wustl.edu 37 1 223934727 223934727 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 223934727 223934727 G - DEL CAPN2 ENST00000295006 human ensembl 74_37 +1 known frame_shift_del c.589 p.G198fs 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 119 0 0 116 13 10.0775 GALNT2 0 genome.wustl.edu 37 1 230372414 230372414 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 230372414 230372414 G - DEL GALNT2 ENST00000366672 human ensembl 74_37 +1 known frame_shift_del c.550 p.A185fs 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC ENSG00000143641 75 0 0 73 15 17.0455 TCEB3 0 genome.wustl.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 24078404 24078404 A - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_del c.1387 p.N465fs 0.998 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 107 0 0 103 9 8.03571 ZNF124 0 genome.wustl.edu 37 1 247319909 247319909 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 247319909 247319909 T - DEL ZNF124 ENST00000543802 human ensembl 74_37 -1 known frame_shift_del c.1015 p.T339fs 0.935 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 ZNF124 HGNC ENSG00000196418 41 0 0 48 5 9.43396 OR11L1 0 genome.wustl.edu 37 1 248004563 248004563 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 248004563 248004563 A - DEL OR11L1 ENST00000355784 human ensembl 74_37 -1 known frame_shift_del c.636 p.L213fs 0.000 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 OR11L1 HGNC ENSG00000197591 59 0 0 58 11 15.942 CNKSR1 0 genome.wustl.edu 37 1 26515997 26515997 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 26515997 26515997 C - DEL CNKSR1 ENST00000374253 human ensembl 74_37 +1 known frame_shift_del c.2121 p.L709fs 0.073 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 232 0 0 150 40 21.0526 SH3BGRL3 0 genome.wustl.edu 37 1 26607448 26607448 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 26607448 26607448 G - DEL SH3BGRL3 ENST00000319041 human ensembl 74_37 +1 known frame_shift_del c.241 p.S83fs 0.002 NULL pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL3 HGNC ENSG00000142669 23 0 0 17 6 26.087 ARID1A 0 genome.wustl.edu 37 1 27057937 27057937 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 27057937 27057937 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.1645 p.Y551fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 342 0 0 292 18 5.80645 EPB41 0 genome.wustl.edu 37 1 29379717 29379717 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 29379717 29379717 A - DEL EPB41 ENST00000343067 human ensembl 74_37 +1 known frame_shift_del c.1738 p.T582fs 0.796 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 60 0 0 57 20 25.974 TSSK3 0 genome.wustl.edu 37 1 32829722 32829722 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 32829722 32829722 G - DEL TSSK3 ENST00000373534 human ensembl 74_37 +1 known frame_shift_del c.672 p.V226fs 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK3 HGNC ENSG00000162526 215 0 0 191 19 9.04762 ENSG00000271554 0 genome.wustl.edu 37 1 36475027 36475027 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 36475027 36475027 A - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 31 0 0 10 6 37.5 GRIK3 0 genome.wustl.edu 37 1 37285344 37285345 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 37285344 37285345 - A INS GRIK3 ENST00000373091 human ensembl 74_37 -1 known frame_shift_ins c.1866_1865 p.M622fs 1.000:1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 45 0 0 33 8 19.5122 ZC3H12A 0 genome.wustl.edu 37 1 37947230 37947231 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 37947230 37947231 - A INS ZC3H12A ENST00000373087 human ensembl 74_37 +1 known frame_shift_ins c.612_613 p.K205fs 1.000:1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 174 0 0 102 36 26.087 ZC3H12A 0 genome.wustl.edu 37 1 37948555 37948555 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 37948555 37948555 G - DEL ZC3H12A ENST00000373087 human ensembl 74_37 +1 known frame_shift_del c.1143 p.A383fs 0.003 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 22 0 0 14 6 30 FHL3 0 genome.wustl.edu 37 1 38462977 38462977 + RNA DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 38462977 38462977 T - DEL FHL3 ENST00000475084 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FHL3 HGNC ENSG00000183386 17 0 0 10 3 23.0769 OXCT2 0 genome.wustl.edu 37 1 40236161 40236161 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 40236161 40236161 G - DEL OXCT2 ENST00000327582 human ensembl 74_37 -1 known frame_shift_del c.767 p.P256fs 0.982 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 85 0 0 90 6 6.25 COL9A2 0 genome.wustl.edu 37 1 40782845 40782845 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 40782845 40782845 G - DEL COL9A2 ENST00000372748 human ensembl 74_37 -1 known frame_shift_del c.25 p.R9fs 0.991 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 20 0 0 9 2 18.1818 TAL1 0 genome.wustl.edu 37 1 47691474 47691475 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 47691474 47691475 - G INS TAL1 ENST00000371883 human ensembl 74_37 -1 known frame_shift_ins c.87_86 p.H30fs 1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL1 HGNC ENSG00000162367 53 0 0 37 10 21.2766 SLC5A9 0 genome.wustl.edu 37 1 48713206 48713206 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 48713206 48713206 T - DEL SLC5A9 ENST00000236495 human ensembl 74_37 +1 known frame_shift_del c.2112 p.F705fs 0.900 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 108 0 0 120 9 6.97674 ZCCHC11 0 genome.wustl.edu 37 1 52991403 52991403 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 52991403 52991403 T - DEL ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_del c.550 p.I184fs 0.196 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 141 0 0 135 45 25 C8B 0 genome.wustl.edu 37 1 57395224 57395224 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 57395224 57395224 G - DEL C8B ENST00000371237 human ensembl 74_37 -1 known frame_shift_del c.1629 p.I544fs 0.054 superfamily_Thrombospondin_1_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 69 0 0 59 10 14.4928 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 54 0 0 58 13 18.3099 KANK4 0 genome.wustl.edu 37 1 62740528 62740528 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 62740528 62740528 G - DEL KANK4 ENST00000371153 human ensembl 74_37 -1 known frame_shift_del c.248 p.P83fs 0.017 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 178 0 0 137 24 14.9068 ELTD1 0 genome.wustl.edu 37 1 79357234 79357234 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 79357234 79357234 A - DEL ELTD1 ENST00000370742 human ensembl 74_37 -1 known frame_shift_del c.1985 p.L662fs 1.000 pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 41 0 0 65 6 8.4507 TNFRSF9 0 genome.wustl.edu 37 1 7998254 7998254 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 7998254 7998254 T - DEL TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.019 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 181 0 0 185 23 11.0577 RERE 0 genome.wustl.edu 37 1 8420670 8420670 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 8420670 8420670 G - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.2897 p.P966fs 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 145 0 0 162 34 17.3469 ENSG00000237568 0 genome.wustl.edu 37 1 89726358 89726358 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 89726358 89726358 A - DEL ENSG00000237568 ENST00000437128 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-620F22.2 Clone_based_vega_gene ENSG00000237568 61 0 0 54 19 26.0274 ZNF644 0 genome.wustl.edu 37 1 91406040 91406040 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 51 0 0 44 8 15.3846 MTF2 0 genome.wustl.edu 37 1 93599280 93599280 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 1 93599280 93599280 A - DEL MTF2 ENST00000370298 human ensembl 74_37 +1 known frame_shift_del c.1181 p.G397fs 0.994 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 35 0 0 43 6 12.2449 PSD 0 genome.wustl.edu 37 10 104176203 104176203 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 104176203 104176203 C - DEL PSD ENST00000020673 human ensembl 74_37 -1 known frame_shift_del c.593 p.G198fs 0.774 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 26 0 0 15 7 31.8182 PWWP2B 0 genome.wustl.edu 37 10 134218254 134218255 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 134218254 134218255 - C INS PWWP2B ENST00000305233 human ensembl 74_37 +1 known frame_shift_ins c.250_251 p.P87fs 0.000:0.183 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 54 0 0 55 14 20.2899 FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 119 0 0 105 11 9.48276 KIAA1217 0 genome.wustl.edu 37 10 24669902 24669902 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 24669902 24669902 G - DEL KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_del c.459 p.D155fs 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 81 0 0 48 12 20 PTCHD3 0 genome.wustl.edu 37 10 27702950 27702951 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 27702950 27702951 - G INS PTCHD3 ENST00000438700 human ensembl 74_37 -1 known frame_shift_ins c.230_229 p.R77fs 0.000:0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 118 0 0 77 15 16.3043 SVIL 0 genome.wustl.edu 37 10 29762771 29762772 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 29762771 29762772 - C INS SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_ins c.5525_5524 p.A1842fs 1.000:0.998 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 95 0 0 62 20 24.3902 DIP2C 0 genome.wustl.edu 37 10 395273 395273 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 395273 395273 G - DEL DIP2C ENST00000280886 human ensembl 74_37 -1 known frame_shift_del c.3107 p.P1036fs 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 59 0 0 50 8 13.7931 TAF3 0 genome.wustl.edu 37 10 8005881 8005883 + Splice_Site DEL AGA AGA - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 8005881 8005883 AGA - DEL TAF3 ENST00000344293 human ensembl 74_37 +1 known splice_site_del c.410-2_410-1 e3-1 1.000:1.000:1.000 - - - no_errors TAF3 HGNC ENSG00000165632 16 0 0 16 2 11.1111 ZMIZ1 0 genome.wustl.edu 37 10 81067262 81067262 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 81067262 81067262 C - DEL ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known frame_shift_del c.2769 p.P925fs 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 107 0 0 99 13 11.6071 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 129 0 0 89 28 23.9316 HTR7 0 genome.wustl.edu 37 10 92502258 92502258 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 92502258 92502258 T - DEL HTR7 ENST00000336152 human ensembl 74_37 -1 known frame_shift_del c.1421 p.K474fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 73 0 0 62 9 12.6761 BTAF1 0 genome.wustl.edu 37 10 93773716 93773718 + In_Frame_Del DEL AAG AAG - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 93773716 93773718 AAG - DEL BTAF1 ENST00000265990 human ensembl 74_37 +1 known in_frame_del c.4514_4516 p.E1506in_frame_del 1.000:1.000:1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 163 0 0 144 9 5.88235 C10orf129 0 genome.wustl.edu 37 10 96967067 96967067 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 96967067 96967067 C - DEL C10orf129 ENST00000341686 human ensembl 74_37 +1 known frame_shift_del c.506 p.P170fs 0.003 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors C10orf129 HGNC ENSG00000173124 125 0 0 112 20 15.1515 TM9SF3 0 genome.wustl.edu 37 10 98319424 98319425 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 10 98319424 98319425 - A INS TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_ins c.652_651 p.Q217fs 1.000:1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 27 0 0 34 5 12.8205 C11orf57 0 genome.wustl.edu 37 11 111953288 111953289 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 111953288 111953289 - A INS C11orf57 ENST00000393047 human ensembl 74_37 +1 known frame_shift_ins c.474_475 p.Q161fs 1.000:1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 24 0 0 23 10 30.303 RNF214 0 genome.wustl.edu 37 11 117105026 117105026 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 117105026 117105026 C - DEL RNF214 ENST00000300650 human ensembl 74_37 +1 known frame_shift_del c.38 p.S15fs 0.003 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 177 0 0 147 27 15.5172 KMT2A 0 genome.wustl.edu 37 11 118375915 118375915 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 118375915 118375915 A - DEL KMT2A ENST00000389506 human ensembl 74_37 +1 known frame_shift_del c.9299 p.I3102fs 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 237 0 0 242 26 9.70149 DDX6 0 genome.wustl.edu 37 11 118629613 118629614 + Splice_Site INS - - GG TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 118629613 118629614 - GG INS DDX6 ENST00000264018 human ensembl 74_37 -1 known splice_site_ins c.865-3_865-2 e8-2 1.000:0.856 - - - no_errors DDX6 HGNC ENSG00000110367 231 1 0.431034 184 51 21.7021 C1QTNF5 0 genome.wustl.edu 37 11 119210190 119210190 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 119210190 119210190 C - DEL C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known frame_shift_del c.583 p.A195fs 0.976 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 138 0 0 92 10 9.80392 IGSF9B 0 genome.wustl.edu 37 11 133807827 133807827 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 133807827 133807827 G - DEL IGSF9B ENST00000321016 human ensembl 74_37 -1 known frame_shift_del c.439 p.Q147fs 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 40 0 0 27 3 10 BRSK2 0 genome.wustl.edu 37 11 1478186 1478187 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 1478186 1478187 - C INS BRSK2 ENST00000308230 human ensembl 74_37 +1 known frame_shift_ins c.2007_2008 p.P672fs 0.999:0.998 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 BRSK2 HGNC ENSG00000174672 27 0 0 14 12 46.1538 BRSK2 0 genome.wustl.edu 37 11 1478187 1478187 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 1478187 1478187 C - DEL BRSK2 ENST00000308230 human ensembl 74_37 +1 known frame_shift_del c.2008 p.P672fs 0.998 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 BRSK2 HGNC ENSG00000174672 27 0 0 24 2 7.69231 PAX6 0 genome.wustl.edu 37 11 31812316 31812317 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 31812316 31812317 - G INS PAX6 ENST00000379107 human ensembl 74_37 -1 known frame_shift_ins c.1167_1166 p.H390fs 0.017:1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 81 0 0 65 15 18.75 CCDC73 0 genome.wustl.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 32635951 32635951 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1913 p.N638fs 0.024 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 32 0 0 27 4 12.9032 HIPK3 0 genome.wustl.edu 37 11 33308323 33308323 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 33308323 33308323 C - DEL HIPK3 ENST00000303296 human ensembl 74_37 +1 known frame_shift_del c.363 p.Q123fs 0.945 NULL 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 78 0 0 79 12 13.1868 APIP 0 genome.wustl.edu 37 11 34910341 34910341 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 34910341 34910341 T - DEL APIP ENST00000278359 human ensembl 74_37 -1 known frame_shift_del c.334 p.S112fs 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB - no_errors APIP HGNC ENSG00000149089 44 0 0 57 22 27.8481 ANO9 0 genome.wustl.edu 37 11 418445 418445 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 418445 418445 C - DEL ANO9 ENST00000332826 human ensembl 74_37 -1 known frame_shift_del c.2275 p.A759fs 0.747 NULL pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 62 0 0 56 14 20 AMBRA1 0 genome.wustl.edu 37 11 46568609 46568609 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 46568609 46568609 A - DEL AMBRA1 ENST00000524783 human ensembl 74_37 -1 known rna NULL NULL 0.881 - - - no_errors AMBRA1 HGNC ENSG00000110497 22 0 0 22 9 29.0323 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 147 0 0 112 12 9.67742 OR4A16 0 genome.wustl.edu 37 11 55111419 55111419 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 55111419 55111419 T - DEL OR4A16 ENST00000314721 human ensembl 74_37 +1 known frame_shift_del c.743 p.F249fs 0.532 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 46 0 0 51 7 12.069 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 39 0 0 40 7 14.8936 FAM111B 0 genome.wustl.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 58892377 58892377 A - DEL FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_del c.807 p.K272fs 0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 22 0 0 11 4 26.6667 MS4A12 0 genome.wustl.edu 37 11 60269470 60269471 + Frame_Shift_Del DEL CT CT - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 60269470 60269471 CT - DEL MS4A12 ENST00000016913 human ensembl 74_37 +1 known frame_shift_del c.429_430 p.S146fs 0.004:0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A12 HGNC ENSG00000071203 268 0 0 272 21 7.16724 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 73 0 0 82 18 18 PYGM 0 genome.wustl.edu 37 11 64519098 64519099 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 64519098 64519099 - A INS PYGM ENST00000164139 human ensembl 74_37 -1 known frame_shift_ins c.1798_1797 p.V599fs 0.991:0.464 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 76 0 0 111 8 6.72269 CDC42BPG 0 genome.wustl.edu 37 11 64595242 64595242 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 64595242 64595242 G - DEL CDC42BPG ENST00000342711 human ensembl 74_37 -1 known frame_shift_del c.3981 p.Y1328fs 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 106 0 0 93 7 7 MAP3K11 0 genome.wustl.edu 37 11 65367034 65367034 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 65367034 65367034 G - DEL MAP3K11 ENST00000309100 human ensembl 74_37 -1 known frame_shift_del c.2037 p.T680fs 0.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 94 0 0 77 5 6.09756 ADRBK1 0 genome.wustl.edu 37 11 67048952 67048952 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 67048952 67048952 A - DEL ADRBK1 ENST00000308595 human ensembl 74_37 +1 known frame_shift_del c.670 p.K225fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 112 0 0 91 13 12.5 NADSYN1 0 genome.wustl.edu 37 11 71192428 71192429 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 71192428 71192429 - T INS NADSYN1 ENST00000319023 human ensembl 74_37 +1 known frame_shift_ins c.1025_1026 p.L344fs 0.996:0.280 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 139 0 0 122 19 13.4752 RPLP2 0 genome.wustl.edu 37 11 812778 812780 + In_Frame_Del DEL AGA AGA - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 812778 812780 AGA - DEL RPLP2 ENST00000321153 human ensembl 74_37 +1 known in_frame_del c.290_292 p.K99in_frame_del 1.000:1.000:1.000 pfam_Ribosomal_L10/L12 pfam_Ribosomal_L10/L12 - no_errors RPLP2 HGNC ENSG00000177600 86 0 0 49 15 23.4375 PCF11 0 genome.wustl.edu 37 11 82877151 82877151 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 11 82877151 82877151 A - DEL PCF11 ENST00000298281 human ensembl 74_37 +1 known frame_shift_del c.1212 p.K406fs 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 14 0 0 20 4 16.6667 CTSC 0 genome.wustl.edu 37 11 88068108 88068108 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 63 0 0 62 17 21.519 FAM71C 0 genome.wustl.edu 37 12 100042353 100042354 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 100042353 100042354 - A INS FAM71C ENST00000324341 human ensembl 74_37 +1 known frame_shift_ins c.401_402 p.Q137fs 0.001:0.032 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 98 0 0 65 19 22.619 ANKS1B 0 genome.wustl.edu 37 12 100166681 100166682 + RNA INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 100166681 100166682 - C INS ANKS1B ENST00000552472 human ensembl 74_37 -1 putative rna NULL NULL 0.001:0.001 - - - no_errors ANKS1B HGNC ENSG00000185046 61 0 0 50 11 18.0328 MVK 0 genome.wustl.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 110019240 110019240 C - DEL MVK ENST00000228510 human ensembl 74_37 +1 known frame_shift_del c.412 p.A141fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 111 0 0 88 12 12 TRPV4 0 genome.wustl.edu 37 12 110238436 110238437 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 110238436 110238437 - C INS TRPV4 ENST00000261740 human ensembl 74_37 -1 known frame_shift_ins c.840_839 p.Y281fs 1.000:1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 73 0 0 59 13 18.0556 CCDC92 0 genome.wustl.edu 37 12 124421799 124421800 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 124421799 124421800 - G INS CCDC92 ENST00000238156 human ensembl 74_37 -1 known frame_shift_ins c.802_801 p.I267fs 1.000:1.000 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 86 0 0 80 9 10.1124 NCOR2 0 genome.wustl.edu 37 12 124841251 124841251 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 124841251 124841251 G - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_del c.3199 p.R1067fs 0.395 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 22 0 0 25 4 13.7931 PLEKHA5 0 genome.wustl.edu 37 12 19514518 19514518 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 19514518 19514518 A - DEL PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_del c.3177 p.T1062fs 0.273 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 12 0 0 17 3 15 KLHL42 0 genome.wustl.edu 37 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 118 0 0 107 26 19.5489 LRRK2 0 genome.wustl.edu 37 12 40713870 40713870 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 40713870 40713870 A - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.4908 p.R1639fs 0.408 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 71 0 0 85 10 10.5263 SENP1 0 genome.wustl.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 48458896 48458896 T - DEL SENP1 ENST00000004980 human ensembl 74_37 -1 known frame_shift_del c.1227 p.G410fs 0.206 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 32 0 0 40 19 32.2034 NCKAP5L 0 genome.wustl.edu 37 12 50189470 50189471 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 50189470 50189471 - C INS NCKAP5L ENST00000335999 human ensembl 74_37 -1 known frame_shift_ins c.2173_2172 p.I724fs 0.000:0.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 31 0 0 23 3 11.5385 AMHR2 0 genome.wustl.edu 37 12 53819644 53819645 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 53819644 53819645 - G INS AMHR2 ENST00000257863 human ensembl 74_37 +1 known frame_shift_ins c.793_794 p.P268fs 0.937:0.935 pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 95 0 0 77 11 12.5 OR6C75 0 genome.wustl.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 55759192 55759192 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.298 p.F102fs 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 129 0 0 107 31 22.4638 STAT6 0 genome.wustl.edu 37 12 57499093 57499094 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 57499093 57499094 - G INS STAT6 ENST00000300134 human ensembl 74_37 -1 known frame_shift_ins c.842_841 p.Q281fs 1.000:1.000 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 STAT6 HGNC ENSG00000166888 66 0 0 66 6 8.33333 XPOT 0 genome.wustl.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 64812755 64812755 T - DEL XPOT ENST00000332707 human ensembl 74_37 +1 known frame_shift_del c.370 p.F126fs 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 82 0 0 85 8 8.60215 MDM1 0 genome.wustl.edu 37 12 68724964 68724964 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 68724964 68724964 T - DEL MDM1 ENST00000303145 human ensembl 74_37 -1 known frame_shift_del c.56 p.K19fs 0.997 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 189 0 0 218 19 8.01688 BBS10 0 genome.wustl.edu 37 12 76741529 76741530 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 76741529 76741530 - T INS BBS10 ENST00000393262 human ensembl 74_37 -1 known frame_shift_ins c.236_235 p.T79fs 0.993:0.846 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS10 HGNC ENSG00000179941 46 0 0 44 8 15.3846 CLEC4A 0 genome.wustl.edu 37 12 8281937 8281937 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 8281937 8281937 A - DEL CLEC4A ENST00000229332 human ensembl 74_37 +1 known frame_shift_del c.277 p.N95fs 0.289 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC ENSG00000111729 57 0 0 69 15 17.8571 LRRIQ1 0 genome.wustl.edu 37 12 85450035 85450035 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 85450035 85450035 A - DEL LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known frame_shift_del c.1464 p.K490fs 0.001 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 27 0 0 27 7 20.5882 LRRIQ1 0 genome.wustl.edu 37 12 85638646 85638646 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 85638646 85638646 A - DEL LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known frame_shift_del c.5096 p.N1702fs 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 40 0 0 32 24 42.8571 CCDC38 0 genome.wustl.edu 37 12 96260859 96260860 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 96260859 96260860 - A INS CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_ins c.1687_1686 p.T562fs 0.990:0.993 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 37 0 0 32 13 28.8889 TMPO 0 genome.wustl.edu 37 12 98921672 98921672 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 12 98921672 98921672 A - DEL TMPO ENST00000266732 human ensembl 74_37 +1 known frame_shift_del c.288 p.T99fs 1.000 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 102 0 0 93 14 13.0841 IFT88 0 genome.wustl.edu 37 13 21205180 21205180 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 21205180 21205180 A - DEL IFT88 ENST00000319980 human ensembl 74_37 +1 known frame_shift_del c.1352 p.K453fs 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 110 0 0 95 7 6.86275 SPG20 0 genome.wustl.edu 37 13 36886628 36886628 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 36886628 36886628 A - DEL SPG20 ENST00000491805 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SPG20 HGNC ENSG00000133104 47 0 0 40 13 24.5283 ALG11 0 genome.wustl.edu 37 13 52593203 52593203 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 52593203 52593203 T - DEL ALG11 ENST00000521508 human ensembl 74_37 +1 known frame_shift_del c.199 p.H69fs 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 129 0 0 99 9 8.33333 LECT1 0 genome.wustl.edu 37 13 53313766 53313766 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 53313766 53313766 G - DEL LECT1 ENST00000377962 human ensembl 74_37 -1 known frame_shift_del c.71 p.P24fs 1.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 77 0 0 88 13 12.8713 MYCBP2 0 genome.wustl.edu 37 13 77671669 77671669 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 13 77671669 77671669 T - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.9620 p.K3207fs 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 10 0 0 6 3 33.3333 SUPT16H 0 genome.wustl.edu 37 14 21833041 21833041 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 21833041 21833041 T - DEL SUPT16H ENST00000216297 human ensembl 74_37 -1 known frame_shift_del c.1178 p.K393fs 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 112 0 0 88 11 11.1111 RNF31 0 genome.wustl.edu 37 14 24620009 24620009 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 24620009 24620009 C - DEL RNF31 ENST00000324103 human ensembl 74_37 +1 known frame_shift_del c.1400 p.L469fs 0.695 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 69 0 0 74 6 7.5 NYNRIN 0 genome.wustl.edu 37 14 24878306 24878306 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 24878306 24878306 G - DEL NYNRIN ENST00000382554 human ensembl 74_37 +1 known frame_shift_del c.1306 p.L438fs 0.016 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 16 0 0 15 5 25 MDGA2 0 genome.wustl.edu 37 14 47530771 47530771 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 47530771 47530771 T - DEL MDGA2 ENST00000439988 human ensembl 74_37 -1 known frame_shift_del c.1206 p.G403fs 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 18 0 0 15 10 40 SOS2 0 genome.wustl.edu 37 14 50606660 50606661 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 50606660 50606661 - A INS SOS2 ENST00000216373 human ensembl 74_37 -1 known frame_shift_ins c.2785_2784 p.G928fs 1.000:1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 42 0 0 45 18 28.5714 SAMD4A 0 genome.wustl.edu 37 14 55226890 55226890 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 55226890 55226890 G - DEL SAMD4A ENST00000392067 human ensembl 74_37 +1 known frame_shift_del c.1188 p.G398fs 0.995 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 417 1 0.239234 281 50 15.1057 EXD2 0 genome.wustl.edu 37 14 69701505 69701505 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 69701505 69701505 A - DEL EXD2 ENST00000312994 human ensembl 74_37 +1 known frame_shift_del c.806 p.N271fs 0.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 21 0 0 25 7 21.875 SIPA1L1 0 genome.wustl.edu 37 14 72054755 72054755 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 72054755 72054755 C - DEL SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_del c.166 p.R58fs 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 114 0 0 113 8 6.61157 PTPN21 0 genome.wustl.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 88940113 88940113 T - DEL PTPN21 ENST00000328736 human ensembl 74_37 -1 known frame_shift_del c.2545 p.I849fs 0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 79 0 0 93 25 21.1864 LGMN 0 genome.wustl.edu 37 14 93170987 93170987 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 93170987 93170987 G - DEL LGMN ENST00000334869 human ensembl 74_37 -1 known frame_shift_del c.1257 p.H419fs 1.000 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 338 0 0 251 32 11.3074 BTBD7 0 genome.wustl.edu 37 14 93730184 93730184 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 93730184 93730184 A - DEL BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_del c.1318 p.Y440fs 1.000 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 128 0 0 99 12 10.8108 ATG2B 0 genome.wustl.edu 37 14 96788614 96788614 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 96788614 96788614 A - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATG2B HGNC ENSG00000066739 41 0 0 64 11 14.6667 ATG2B 0 genome.wustl.edu 37 14 96790337 96790338 + Splice_Site INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 14 96790337 96790338 - A INS ATG2B ENST00000359933 human ensembl 74_37 -1 known splice_site_ins c.2438-3_2438-2 e16-2 0.997:0.458 - - - no_errors ATG2B HGNC ENSG00000066739 27 0 0 24 3 11.1111 SNHG14 0 genome.wustl.edu 37 15 25304706 25304706 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 25304706 25304706 A - DEL SNHG14 ENST00000384733 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 239 0 0 186 39 17.3333 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 189 0 0 149 21 12.3529 SNORD115-15 0 genome.wustl.edu 37 15 25442770 25442770 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 25442770 25442770 A - DEL SNORD115-15 ENST00000364809 human ensembl 74_37 +1 known rna NULL NULL 0.878 - - - no_errors SNORD115-15 HGNC ENSG00000201679 602 0 0 505 28 5.25328 SPRED1 0 genome.wustl.edu 37 15 38616968 38616968 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 38616968 38616968 C - DEL SPRED1 ENST00000299084 human ensembl 74_37 +1 known frame_shift_del c.381 p.E129fs 0.998 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 16 0 0 24 6 20 VPS39 0 genome.wustl.edu 37 15 42492117 42492119 + In_Frame_Del DEL AGA AGA - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 42492117 42492119 AGA - DEL VPS39 ENST00000348544 human ensembl 74_37 -1 known in_frame_del c.116_114 p.L39in_frame_del 1.000:1.000:0.998 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 81 0 0 66 5 7.04225 STRC 0 genome.wustl.edu 37 15 43893733 43893734 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 43893733 43893734 - G INS STRC ENST00000450892 human ensembl 74_37 -1 known frame_shift_ins c.4562_4561 p.R1521fs 0.022:0.015 NULL NULL - no_errors STRC HGNC ENSG00000242866 64 0 0 84 23 21.4953 SLC30A4 0 genome.wustl.edu 37 15 45814242 45814243 + Frame_Shift_Ins INS - - TC TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 45814242 45814243 - TC INS SLC30A4 ENST00000261867 human ensembl 74_37 -1 known frame_shift_ins c.311_310 p.I104fs 0.001:0.001 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC ENSG00000104154 161 0 0 81 52 39.0977 GLDN 0 genome.wustl.edu 37 15 51692688 51692688 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 51692688 51692688 T - DEL GLDN ENST00000335449 human ensembl 74_37 +1 known frame_shift_del c.1020 p.S342fs 0.913 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 368 0 0 201 142 41.3994 PIGB 0 genome.wustl.edu 37 15 55621922 55621922 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 55621922 55621922 T - DEL PIGB ENST00000164305 human ensembl 74_37 +1 known frame_shift_del c.523 p.C177fs 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 117 0 0 123 14 10.219 NARG2 0 genome.wustl.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 44 0 0 26 22 45.8333 IGDCC4 0 genome.wustl.edu 37 15 65678319 65678319 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 65678319 65678319 G - DEL IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel frame_shift_del c.3030 p.S1011fs 0.001 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 23 0 0 13 4 23.5294 DENND4A 0 genome.wustl.edu 37 15 66030118 66030119 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 66030118 66030119 - A INS DENND4A ENST00000443035 human ensembl 74_37 -1 known frame_shift_ins c.967_966 p.D322fs 1.000:1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_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,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 13 0 0 11 6 35.2941 LOC729911 0 genome.wustl.edu 37 15 79529061 79529063 + RNA DEL CCT CCT - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 15 79529061 79529063 CCT - DEL LOC729911 ENST00000559979 human ensembl 74_37 -1 known rna NULL NULL 0.994:0.996:0.982 - - - no_errors RP11-17L5.4 Clone_based_vega_gene ENSG00000259234 26 0 0 11 18 62.069 CIITA 0 genome.wustl.edu 37 16 11001304 11001305 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 11001304 11001305 - C INS CIITA ENST00000324288 human ensembl 74_37 +1 known frame_shift_ins c.1955_1956 p.G655fs 0.096:0.128 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 36 0 0 34 10 22.7273 KIAA0430 0 genome.wustl.edu 37 16 15724194 15724194 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 15724194 15724194 T - DEL KIAA0430 ENST00000396368 human ensembl 74_37 -1 known frame_shift_del c.1519 p.M507fs 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 108 0 0 85 13 13.2653 KNOP1 0 genome.wustl.edu 37 16 19725706 19725706 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 19725706 19725706 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.652 p.I218fs 0.397 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 67 0 0 75 7 8.53659 ARHGAP17 0 genome.wustl.edu 37 16 24950745 24950745 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 24950745 24950745 C - DEL ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known frame_shift_del c.1664 p.G555fs 1.000 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 25 0 0 15 11 42.3077 CCNF 0 genome.wustl.edu 37 16 2503467 2503467 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 2503467 2503467 C - DEL CCNF ENST00000397066 human ensembl 74_37 +1 known frame_shift_del c.1644 p.P550fs 0.668 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 68 0 0 66 13 16.4557 GTF3C1 0 genome.wustl.edu 37 16 27475971 27475972 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 27475971 27475972 - G INS GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_ins c.5542_5541 p.E1847fs 0.012:0.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 48 0 0 52 5 8.77193 MAPK3 0 genome.wustl.edu 37 16 30134461 30134461 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 30134461 30134461 C - DEL MAPK3 ENST00000263025 human ensembl 74_37 -1 known frame_shift_del c.70 p.V24fs 0.218 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK3 HGNC ENSG00000102882 29 0 0 26 5 16.129 SRCAP 0 genome.wustl.edu 37 16 30736371 30736371 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 30736371 30736371 C - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.5626 p.P1878fs 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 200 2 0.990099 139 42 23.2044 ABCC11 0 genome.wustl.edu 37 16 48261862 48261862 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 48261862 48261862 G - DEL ABCC11 ENST00000356608 human ensembl 74_37 -1 known frame_shift_del c.250 p.Q84fs 0.000 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 - no_errors ABCC11 HGNC ENSG00000121270 92 0 0 79 16 16.8421 GLYR1 0 genome.wustl.edu 37 16 4862228 4862229 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 4862228 4862229 - C INS GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_ins c.1141_1140 p.R380fs 0.990:0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 46 0 0 39 8 17.0213 BRD7 0 genome.wustl.edu 37 16 50367554 50367555 + Frame_Shift_Del DEL CT CT - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 50367554 50367555 CT - DEL BRD7 ENST00000394689 human ensembl 74_37 -1 known frame_shift_del c.942_941 p.E314fs 0.995:1.000 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 291 0 0 282 15 5.05051 NOD2 0 genome.wustl.edu 37 16 50745399 50745399 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 50745399 50745399 C - DEL NOD2 ENST00000300589 human ensembl 74_37 +1 known frame_shift_del c.1577 p.P528fs 0.928 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 117 0 0 82 16 16.3265 CSNK2A2 0 genome.wustl.edu 37 16 58202515 58202515 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 58202515 58202515 T - DEL CSNK2A2 ENST00000262506 human ensembl 74_37 -1 known frame_shift_del c.512 p.K171fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A2 HGNC ENSG00000070770 59 0 0 53 11 17.1875 ATP6V0D1 0 genome.wustl.edu 37 16 67477072 67477072 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 67477072 67477072 A - DEL ATP6V0D1 ENST00000290949 human ensembl 74_37 -1 known frame_shift_del c.491 p.F164fs 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC ENSG00000159720 140 0 0 99 9 8.33333 FUK 0 genome.wustl.edu 37 16 70513191 70513191 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 70513191 70513191 C - DEL FUK ENST00000378912 human ensembl 74_37 +1 known frame_shift_del c.3056 p.H1021fs 0.915 pfam_GHMP_kinase_C_dom,prints_Galkinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 88 0 0 56 18 24.3243 MSLN 0 genome.wustl.edu 37 16 815527 815527 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 815527 815527 C - DEL MSLN ENST00000382862 human ensembl 74_37 +1 known frame_shift_del c.705 p.P237fs 0.208 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 45 0 0 21 8 27.5862 TAF1C 0 genome.wustl.edu 37 16 84213651 84213651 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 84213651 84213651 G - DEL TAF1C ENST00000378541 human ensembl 74_37 -1 known frame_shift_del c.1600 p.Q534fs 0.998 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 58 0 0 46 8 14.8148 ZC3H18 0 genome.wustl.edu 37 16 88691140 88691141 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 88691140 88691141 - C INS ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_ins c.2029_2030 p.R680fs 0.978:0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 28 0 0 27 4 12.9032 ANKRD11 0 genome.wustl.edu 37 16 89350538 89350538 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 16 89350538 89350538 T - DEL ANKRD11 ENST00000301030 human ensembl 74_37 -1 known frame_shift_del c.2412 p.E805fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 20 0 0 15 5 25 SHMT1 0 genome.wustl.edu 37 17 18259316 18259317 + Splice_Site INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 18259316 18259317 - A INS SHMT1 ENST00000316694 human ensembl 74_37 -1 known splice_site_ins c.1-3_4 e1-2 0.992:0.695 - - - no_errors SHMT1 HGNC ENSG00000176974 34 0 0 20 7 25.9259 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 95 0 0 90 32 26.2295 UBBP4 0 genome.wustl.edu 37 17 21731262 21731262 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 21731262 21731262 C - DEL UBBP4 ENST00000584755 human ensembl 74_37 +1 novel frame_shift_del c.564 p.P190fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 92 0 0 51 15 22.7273 TMEM97 0 genome.wustl.edu 37 17 26653807 26653807 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 26653807 26653807 A - DEL TMEM97 ENST00000226230 human ensembl 74_37 +1 known frame_shift_del c.519 p.K176fs 1.000 pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 56 0 0 37 14 27.451 KRTAP1-1 0 genome.wustl.edu 37 17 39197254 39197254 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 39197254 39197254 G - DEL KRTAP1-1 ENST00000306271 human ensembl 74_37 -1 known frame_shift_del c.396 p.C133fs 0.996 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-1 HGNC ENSG00000188581 61 0 0 34 8 19.0476 ZZEF1 0 genome.wustl.edu 37 17 3962504 3962504 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 3962504 3962504 A - DEL ZZEF1 ENST00000381638 human ensembl 74_37 -1 known frame_shift_del c.4964 p.L1655fs 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 72 0 0 54 12 18.1818 KRT16 0 genome.wustl.edu 37 17 39768744 39768744 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 39768744 39768744 C - DEL KRT16 ENST00000301653 human ensembl 74_37 -1 known frame_shift_del c.197 p.G66fs 0.995 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 9 0 0 7 3 30 PLEKHH3 0 genome.wustl.edu 37 17 40821461 40821463 + In_Frame_Del DEL AGG AGG - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 40821461 40821463 AGG - DEL PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known in_frame_del c.2192_2190 p.L731in_frame_del 1.000:1.000:1.000 pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 31 0 0 28 4 12.5 SLC4A1 0 genome.wustl.edu 37 17 42337271 42337271 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 42337271 42337271 C - DEL SLC4A1 ENST00000262418 human ensembl 74_37 -1 known frame_shift_del c.515 p.G172fs 0.931 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 111 0 0 92 29 23.9669 TAC4 0 genome.wustl.edu 37 17 47918915 47918915 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 47918915 47918915 T - DEL TAC4 ENST00000334568 human ensembl 74_37 -1 known frame_shift_del c.249 p.A84fs 0.021 NULL NULL - no_errors TAC4 HGNC ENSG00000176358 75 0 0 67 4 5.6338 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 86 0 0 65 18 21.6867 SPAG9 0 genome.wustl.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 49077041 49077041 T - DEL SPAG9 ENST00000262013 human ensembl 74_37 -1 known frame_shift_del c.1645 p.R549fs 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 47 0 0 48 18 27.2727 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 189 0 0 179 23 11.3861 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 51 0 0 44 20 31.25 PITPNM3 0 genome.wustl.edu 37 17 6387013 6387014 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 6387013 6387014 - C INS PITPNM3 ENST00000262483 human ensembl 74_37 -1 known frame_shift_ins c.411_410 p.N138fs 0.014:1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 140 0 0 141 12 7.84314 LLGL2 0 genome.wustl.edu 37 17 73555338 73555338 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 73555338 73555338 C - DEL LLGL2 ENST00000392550 human ensembl 74_37 +1 known frame_shift_del c.377 p.S128fs 0.956 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 37 0 0 29 6 17.1429 RNF213 0 genome.wustl.edu 37 17 78324139 78324139 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 78324139 78324139 T - DEL RNF213 ENST00000582970 human ensembl 74_37 +1 known frame_shift_del c.10127 p.Q3378fs 0.829 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 53 0 0 47 5 9.61538 TSPAN10 0 genome.wustl.edu 37 17 79612316 79612317 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 17 79612316 79612317 - G INS TSPAN10 ENST00000328585 human ensembl 74_37 +1 known frame_shift_ins c.335_336 p.P115fs 0.000:0.002 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 36 0 0 28 6 17.6471 SMCHD1 0 genome.wustl.edu 37 18 2706440 2706440 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 15 0 0 9 5 35.7143 WBP11P1 0 genome.wustl.edu 37 18 30092428 30092428 + RNA DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 30092428 30092428 C - DEL WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WBP11P1 HGNC ENSG00000260389 137 0 0 127 10 7.29927 ASXL3 0 genome.wustl.edu 37 18 31325915 31325915 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 31325915 31325915 C - DEL ASXL3 ENST00000269197 human ensembl 74_37 +1 known frame_shift_del c.6103 p.P2037fs 0.124 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 9 0 0 9 3 25 ASXL3 0 genome.wustl.edu 37 18 31326067 31326067 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 31326067 31326067 T - DEL ASXL3 ENST00000269197 human ensembl 74_37 +1 known frame_shift_del c.6255 p.F2086fs 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 106 0 0 98 9 8.41121 HAUS1 0 genome.wustl.edu 37 18 43685174 43685174 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 43685174 43685174 A - DEL HAUS1 ENST00000282058 human ensembl 74_37 +1 known frame_shift_del c.45 p.I18fs 1.000 NULL NULL - no_errors HAUS1 HGNC ENSG00000152240 40 0 0 56 5 8.19672 ALPK2 0 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 56246440 56246440 T - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1568 p.K523fs 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 411 0 0 289 72 19.9446 ALPK2 0 genome.wustl.edu 37 18 56246941 56246941 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 56246941 56246941 A - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1067 p.L356fs 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 70 0 0 57 22 27.8481 TMEM200C 0 genome.wustl.edu 37 18 5891806 5891806 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 5891806 5891806 C - DEL TMEM200C ENST00000383490 human ensembl 74_37 -1 known frame_shift_del c.257 p.G86fs 0.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 45 0 0 35 6 14.6341 CDH19 0 genome.wustl.edu 37 18 64211957 64211957 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 18 64211957 64211957 T - DEL CDH19 ENST00000262150 human ensembl 74_37 -1 known frame_shift_del c.959 p.K320fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 20 0 0 16 5 23.8095 ZNF563 0 genome.wustl.edu 37 19 12430216 12430217 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 12430216 12430217 - A INS ZNF563 ENST00000293725 human ensembl 74_37 -1 known frame_shift_ins c.623_622 p.W208fs 0.001:0.004 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 ZNF563 HGNC ENSG00000188868 113 0 0 101 14 12.1739 RTBDN 0 genome.wustl.edu 37 19 12939514 12939514 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 12939514 12939514 C - DEL RTBDN ENST00000322912 human ensembl 74_37 -1 known frame_shift_del c.418 p.V140fs 0.047 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors RTBDN HGNC ENSG00000132026 78 0 0 55 16 22.5352 GAMT 0 genome.wustl.edu 37 19 1398958 1398959 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 1398958 1398959 - C INS GAMT ENST00000447102 human ensembl 74_37 -1 known frame_shift_ins c.527_526 p.E176fs 0.999:0.994 NULL NULL - no_errors GAMT HGNC ENSG00000130005 96 0 0 62 16 20.5128 NOTCH3 0 genome.wustl.edu 37 19 15296358 15296358 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 15296358 15296358 G - DEL NOTCH3 ENST00000263388 human ensembl 74_37 -1 known frame_shift_del c.2084 p.P695fs 0.003 pirsf_Notch,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 81 0 0 46 14 23.3333 MBD3 0 genome.wustl.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 1578372 1578374 CTC - DEL MBD3 ENST00000156825 human ensembl 74_37 -1 known in_frame_del c.843_841 p.E281in_frame_del 0.902:0.992:1.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 17 0 0 22 4 15.3846 COMP 0 genome.wustl.edu 37 19 18896845 18896847 + In_Frame_Del DEL GTC GTC - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 GTC GTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 18896845 18896847 GTC - DEL COMP ENST00000222271 human ensembl 74_37 -1 known in_frame_del c.1419_1417 p.D473in_frame_del 0.999:1.000:1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 41 0 0 48 3 5.88235 IZUMO4 0 genome.wustl.edu 37 19 2099012 2099013 + Frame_Shift_Del DEL AG AG - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 2099012 2099013 AG - DEL IZUMO4 ENST00000395301 human ensembl 74_37 +1 known frame_shift_del c.592_593 p.R198fs 0.988:0.994 NULL NULL - no_errors IZUMO4 HGNC ENSG00000099840 199 0 0 159 37 18.8776 GIPC3 0 genome.wustl.edu 37 19 3589526 3589527 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 3589526 3589527 - G INS GIPC3 ENST00000322315 human ensembl 74_37 +1 known frame_shift_ins c.678_679 p.A228fs 0.411:0.803 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 107 0 0 91 11 10.7843 ARHGAP33 0 genome.wustl.edu 37 19 36278096 36278096 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 36278096 36278096 C - DEL ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known frame_shift_del c.2629 p.P878fs 0.992 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 157 0 0 127 10 7.29927 SYNE4 0 genome.wustl.edu 37 19 36499537 36499538 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 36499537 36499538 - G INS SYNE4 ENST00000324444 human ensembl 74_37 -1 known frame_shift_ins c.47_46 p.L16fs 0.042:0.046 NULL pfam_KASH,pfscan_KASH - no_errors SYNE4 HGNC ENSG00000181392 26 0 0 17 5 22.7273 HNRNPL 0 genome.wustl.edu 37 19 39330958 39330959 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 39330958 39330959 - G INS HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_ins c.1011_1010 p.P338fs 1.000:1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 22 0 0 27 6 18.1818 DAPK3 0 genome.wustl.edu 37 19 3959269 3959271 + In_Frame_Del DEL CCT CCT - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 3959269 3959271 CCT - DEL DAPK3 ENST00000301264 human ensembl 74_37 -1 known in_frame_del c.1195_1193 p.E398in_frame_del 1.000:1.000:1.000 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 9 0 0 11 5 31.25 PLEKHG2 0 genome.wustl.edu 37 19 39913906 39913906 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 39913906 39913906 G - DEL PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known frame_shift_del c.2212 p.V739fs 0.008 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 108 0 0 99 7 6.60377 AXL 0 genome.wustl.edu 37 19 41743896 41743896 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 41743896 41743896 C - DEL AXL ENST00000301178 human ensembl 74_37 +1 known frame_shift_del c.831 p.P279fs 0.874 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 81 0 0 64 30 31.9149 HNRNPUL1 0 genome.wustl.edu 37 19 41808818 41808818 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 41808818 41808818 G - DEL HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known frame_shift_del c.1936 p.G647fs 0.979 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 107 0 0 94 6 6 SCAF1 0 genome.wustl.edu 37 19 50158041 50158042 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 50158041 50158042 - C INS SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_ins c.3532_3533 p.T1181fs 0.839:0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 36 0 0 37 3 7.5 POLD1 0 genome.wustl.edu 37 19 50905323 50905324 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 50905323 50905324 - G INS POLD1 ENST00000440232 human ensembl 74_37 +1 known frame_shift_ins c.531_532 p.R179fs 0.043:0.061 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 101 0 0 72 15 17.2414 KDM4B 0 genome.wustl.edu 37 19 5144151 5144151 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 5144151 5144151 G - DEL KDM4B ENST00000159111 human ensembl 74_37 +1 known frame_shift_del c.2724 p.G910fs 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 103 0 0 62 15 19.4805 PTPRS 0 genome.wustl.edu 37 19 5222731 5222731 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 5222731 5222731 G - DEL PTPRS ENST00000372412 human ensembl 74_37 -1 known frame_shift_del c.3075 p.V1026fs 0.579 superfamily_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 30 0 0 35 4 10.2564 ZNF787 0 genome.wustl.edu 37 19 56600346 56600346 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 56600346 56600346 G - DEL ZNF787 ENST00000270459 human ensembl 74_37 -1 known frame_shift_del c.195 p.Y66fs 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 35 0 0 14 3 17.6471 NRTN 0 genome.wustl.edu 37 19 5824290 5824290 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 5824290 5824290 C - DEL NRTN ENST00000303212 human ensembl 74_37 +1 known frame_shift_del c.114 p.L40fs 0.829 NULL pfam_TGF-b_C - no_errors NRTN HGNC ENSG00000171119 20 0 0 18 4 18.1818 LRRC8E 0 genome.wustl.edu 37 19 7965708 7965709 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 7965708 7965709 - G INS LRRC8E ENST00000306708 human ensembl 74_37 +1 known frame_shift_ins c.2301_2302 p.L769fs 0.486:0.146 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 100 0 0 68 12 15 MAP2K7 0 genome.wustl.edu 37 19 7975006 7975006 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 7975006 7975006 G - DEL MAP2K7 ENST00000545011 human ensembl 74_37 +1 known frame_shift_del c.325 p.G110fs 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 MAP2K7 HGNC ENSG00000076984 39 0 0 26 5 16.129 FBN3 0 genome.wustl.edu 37 19 8171075 8171075 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 19 8171075 8171075 C - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.4730 p.G1577fs 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 76 0 0 61 16 20.7792 ENSG00000223947 0 genome.wustl.edu 37 2 101611849 101611850 + RNA INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 101611849 101611850 - T INS ENSG00000223947 ENST00000452364 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.004 - - - no_errors AC016738.4 Clone_based_vega_gene ENSG00000223947 106 0 0 68 24 26.087 SAP130 0 genome.wustl.edu 37 2 128774049 128774050 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 128774049 128774050 - G INS SAP130 ENST00000357702 human ensembl 74_37 -1 known frame_shift_ins c.499_498 p.K166fs 1.000:1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 108 0 0 86 20 18.8679 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 99 0 0 71 40 36.036 NR4A2 0 genome.wustl.edu 37 2 157185028 157185029 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 157185028 157185029 - T INS NR4A2 ENST00000539077 human ensembl 74_37 -1 known frame_shift_ins c.915_914 p.N305fs 0.988:1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_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_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 64 0 0 66 12 15.3846 FIGN 0 genome.wustl.edu 37 2 164467542 164467543 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 164467542 164467543 - C INS FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_ins c.800_799 p.A267fs 1.000:1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 74 0 0 55 7 11.2903 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 18 0 0 20 5 20 RAD51AP2 0 genome.wustl.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 42 0 0 29 16 35.5556 HOXD8 0 genome.wustl.edu 37 2 176995417 176995417 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 176995417 176995417 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.323 p.P110fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 57 0 0 40 14 25.9259 GEN1 0 genome.wustl.edu 37 2 17952518 17952518 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 17952518 17952518 A - DEL GEN1 ENST00000317402 human ensembl 74_37 +1 known frame_shift_del c.766 p.K257fs 0.977 superfamily_5-3_exonuclease_C pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 145 0 0 143 10 6.53595 TTN 0 genome.wustl.edu 37 2 179633504 179633504 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 179633504 179633504 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.9059 p.K3020fs 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 61 0 0 69 17 19.7674 NUP35 0 genome.wustl.edu 37 2 184023121 184023121 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 184023121 184023121 A - DEL NUP35 ENST00000295119 human ensembl 74_37 +1 known frame_shift_del c.720 p.K241fs 0.992 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 - no_errors NUP35 HGNC ENSG00000163002 103 0 0 97 26 21.1382 DNAH7 0 genome.wustl.edu 37 2 196642652 196642653 + Frame_Shift_Del DEL CT CT - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 196642652 196642653 CT - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.10936_10935 p.R3645fs 1.000:0.984 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 78 0 0 54 13 19.403 GTF3C3 0 genome.wustl.edu 37 2 197657761 197657762 + In_Frame_Ins INS - - TCC TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 197657761 197657762 - TCC INS GTF3C3 ENST00000263956 human ensembl 74_37 -1 known in_frame_ins c.330_329 p.112in_frame_insE 0.995:0.984 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 50 0 0 52 7 11.8644 ENSG00000257045 0 genome.wustl.edu 37 2 200193649 200193649 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 200193649 200193649 A - DEL ENSG00000257045 ENST00000489557 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-486F17.1 Clone_based_vega_gene ENSG00000257045 27 0 0 19 3 13.6364 TNS1 0 genome.wustl.edu 37 2 218696258 218696258 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 218696258 218696258 G - DEL TNS1 ENST00000171887 human ensembl 74_37 -1 known frame_shift_del c.2918 p.P973fs 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 39 0 0 30 4 11.7647 AAMP 0 genome.wustl.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 219134766 219134766 G - DEL AAMP ENST00000248450 human ensembl 74_37 -1 known frame_shift_del c.44 p.P15fs 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAMP HGNC ENSG00000127837 499 1 0.2 409 77 15.8436 SPEG 0 genome.wustl.edu 37 2 220347922 220347922 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 220347922 220347922 C - DEL SPEG ENST00000312358 human ensembl 74_37 +1 novel frame_shift_del c.5737 p.S1915fs 0.943 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 22 0 0 12 6 33.3333 ECEL1 0 genome.wustl.edu 37 2 233349513 233349513 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 233349513 233349513 G - DEL ECEL1 ENST00000304546 human ensembl 74_37 -1 known frame_shift_del c.1057 p.H353fs 0.329 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 163 0 0 112 9 7.43802 UGT1A8 0 genome.wustl.edu 37 2 234669581 234669582 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 234669581 234669582 - T INS UGT1A8 ENST00000305208 human ensembl 74_37 +1 known frame_shift_ins c.648_649 p.S217fs 0.000:0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A8 HGNC ENSG00000242366 266 0 0 209 14 6.27803 CAPN10 0 genome.wustl.edu 37 2 241533462 241533462 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 241533462 241533462 G - DEL CAPN10 ENST00000391984 human ensembl 74_37 +1 known frame_shift_del c.828 p.G278fs 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 46 0 0 40 11 21.5686 AGXT 0 genome.wustl.edu 37 2 241808308 241808308 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 241808308 241808308 C - DEL AGXT ENST00000307503 human ensembl 74_37 +1 known frame_shift_del c.26 p.K12fs 0.001 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 24 0 0 22 5 18.5185 AGBL5 0 genome.wustl.edu 37 2 27282134 27282136 + In_Frame_Del DEL AGC AGC - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 27282134 27282136 AGC - DEL AGBL5 ENST00000360131 human ensembl 74_37 +1 known in_frame_del c.1951_1953 p.S654in_frame_del 0.904:1.000:1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 97 0 0 75 12 13.7931 CLIP4 0 genome.wustl.edu 37 2 29379233 29379233 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 29379233 29379233 A - DEL CLIP4 ENST00000320081 human ensembl 74_37 +1 known frame_shift_del c.1179 p.D396fs 0.787 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 36 0 0 38 13 25.4902 UGP2 0 genome.wustl.edu 37 2 64109785 64109788 + Frame_Shift_Del DEL AGTG AGTG - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AGTG AGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 64109785 64109788 AGTG - DEL UGP2 ENST00000337130 human ensembl 74_37 +1 known frame_shift_del c.441 p.E147fs 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 143 0 0 92 19 17.1171 FBXO41 0 genome.wustl.edu 37 2 73490910 73490910 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 73490910 73490910 C - DEL FBXO41 ENST00000295133 human ensembl 74_37 -1 known frame_shift_del c.2154 p.N719fs 0.977 NULL superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 82 0 0 60 7 10.4478 TET3 0 genome.wustl.edu 37 2 74275076 74275076 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 74275076 74275076 C - DEL TET3 ENST00000409262 human ensembl 74_37 +1 known frame_shift_del c.1627 p.P544fs 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 44 0 0 35 14 28.5714 RNF103 0 genome.wustl.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 86831015 86831015 T - DEL RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_del c.2009 p.K670fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 110 0 0 82 16 16.3265 KRCC1 0 genome.wustl.edu 37 2 88327536 88327536 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 88327536 88327536 T - DEL KRCC1 ENST00000347055 human ensembl 74_37 -1 known frame_shift_del c.547 p.S183fs 0.005 NULL NULL - no_errors KRCC1 HGNC ENSG00000172086 39 0 0 62 8 11.4286 ANKRD23 0 genome.wustl.edu 37 2 97507821 97507821 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 2 97507821 97507821 G - DEL ANKRD23 ENST00000318357 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 0.906 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 ANKRD23 HGNC ENSG00000163126 112 0 0 120 7 5.51181 SNPH 0 genome.wustl.edu 37 20 1286385 1286386 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 1286385 1286386 - C INS SNPH ENST00000381867 human ensembl 74_37 +1 known frame_shift_ins c.1304_1305 p.N437fs 0.999:1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 18 0 0 11 7 38.8889 DNMT3B 0 genome.wustl.edu 37 20 31384650 31384651 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 31384650 31384651 - G INS DNMT3B ENST00000328111 human ensembl 74_37 +1 known frame_shift_ins c.1352_1353 p.L454fs 1.000:1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 185 0 0 143 35 19.6629 TGIF2 0 genome.wustl.edu 37 20 35219613 35219616 + Frame_Shift_Del DEL ACTC ACTC - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 ACTC ACTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 35219613 35219616 ACTC - DEL TGIF2 ENST00000373872 human ensembl 74_37 +1 known frame_shift_del c.493_496 p.T165fs 0.733:0.991:0.991:1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2 HGNC ENSG00000118707 62 0 0 40 10 20 EMILIN3 0 genome.wustl.edu 37 20 39990829 39990829 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 39990829 39990829 C - DEL EMILIN3 ENST00000332312 human ensembl 74_37 -1 known frame_shift_del c.1380 p.W461fs 0.767 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 169 0 0 146 40 21.5054 NCOA5 0 genome.wustl.edu 37 20 44691404 44691404 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 20 44691404 44691404 G - DEL NCOA5 ENST00000290231 human ensembl 74_37 -1 known frame_shift_del c.1275 p.T426fs 1.000 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 229 0 0 195 13 6.25 GART 0 genome.wustl.edu 37 21 34882122 34882122 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 34882122 34882122 T - DEL GART ENST00000381815 human ensembl 74_37 -1 known frame_shift_del c.2420 p.K807fs 0.844 NULL pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 51 0 0 50 10 16.6667 CBS 0 genome.wustl.edu 37 21 44488678 44488679 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 44488678 44488679 - C INS CBS ENST00000398168 human ensembl 74_37 -1 known frame_shift_ins c.257_256 p.D86fs 0.990:0.622 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_CBS_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_CBS_dom,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 147 0 0 124 7 5.34351 KRTAP10-12 0 genome.wustl.edu 37 21 46117409 46117409 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 21 46117409 46117409 C - DEL KRTAP10-12 ENST00000400365 human ensembl 74_37 +1 known frame_shift_del c.293 p.C100fs 0.695 NULL NULL - no_errors KRTAP10-12 HGNC ENSG00000189169 366 0 0 219 29 11.6935 ZDHHC8 0 genome.wustl.edu 37 22 20130522 20130522 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 20130522 20130522 C - DEL ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known frame_shift_del c.1369 p.T459fs 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 38 0 0 21 5 19.2308 SMTN 0 genome.wustl.edu 37 22 31487799 31487799 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 31487799 31487799 C - DEL SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_del c.1598 p.S536fs 0.994 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 22 0 0 11 4 26.6667 LIMK2 0 genome.wustl.edu 37 22 31672776 31672777 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 31672776 31672777 - C INS LIMK2 ENST00000340552 human ensembl 74_37 +1 putative frame_shift_ins c.1711_1712 p.G574fs 0.995:0.996 smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 25 0 0 19 6 24 PKDREJ 0 genome.wustl.edu 37 22 46657108 46657109 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 46657108 46657109 - A INS PKDREJ ENST00000253255 human ensembl 74_37 -1 known frame_shift_ins c.2112_2111 p.L704fs 0.000:0.014 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 65 0 0 76 10 11.6279 CELSR1 0 genome.wustl.edu 37 22 46776791 46776791 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 22 46776791 46776791 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.7150 p.A2384fs 0.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 55 0 0 39 9 18.75 ENSG00000206567 0 genome.wustl.edu 37 3 10050174 10050174 + RNA DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 10050174 10050174 G - DEL ENSG00000206567 ENST00000383808 human ensembl 74_37 -1 known rna NULL NULL 0.800 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000206567 92 0 0 83 8 8.79121 PLA1A 0 genome.wustl.edu 37 3 119316796 119316796 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 119316796 119316796 G - DEL PLA1A ENST00000273371 human ensembl 74_37 +1 known frame_shift_del c.36 p.G14fs 0.009 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 24 0 0 6 3 33.3333 POLQ 0 genome.wustl.edu 37 3 121207489 121207489 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 121207489 121207489 A - DEL POLQ ENST00000264233 human ensembl 74_37 -1 known frame_shift_del c.4289 p.L1430fs 0.152 NULL 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 36 0 0 18 9 33.3333 DIRC2 0 genome.wustl.edu 37 3 122591386 122591386 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 122591386 122591386 T - DEL DIRC2 ENST00000261038 human ensembl 74_37 +1 known frame_shift_del c.1263 p.L423fs 0.977 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 51 0 0 55 22 28.5714 KALRN 0 genome.wustl.edu 37 3 123983389 123983389 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 123983389 123983389 G - DEL KALRN ENST00000360013 human ensembl 74_37 +1 known frame_shift_del c.302 p.G102fs 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 26 0 0 34 2 5.55556 NPHP3 0 genome.wustl.edu 37 3 132418282 132418283 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 132418282 132418283 - T INS NPHP3 ENST00000337331 human ensembl 74_37 -1 known frame_shift_ins c.1900_1899 p.H633fs 1.000:1.000 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 36 0 0 40 11 21.5686 ATR 0 genome.wustl.edu 37 3 142261555 142261555 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 50 0 0 54 5 8.47458 PRKCI 0 genome.wustl.edu 37 3 169998128 169998128 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 169998128 169998128 A - DEL PRKCI ENST00000295797 human ensembl 74_37 +1 known frame_shift_del c.819 p.T276fs 0.995 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 58 0 0 54 10 15.625 ABCC5 0 genome.wustl.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 183665257 183665257 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.3269 p.L1090fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 31 0 0 31 3 8.82353 MB21D2 0 genome.wustl.edu 37 3 192517004 192517004 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 192517004 192517004 T - DEL MB21D2 ENST00000392452 human ensembl 74_37 -1 known frame_shift_del c.647 p.N216fs 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 96 0 0 74 24 24.4898 ZDHHC19 0 genome.wustl.edu 37 3 195925221 195925221 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 195925221 195925221 G - DEL ZDHHC19 ENST00000296326 human ensembl 74_37 -1 known frame_shift_del c.875 p.P292fs 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 59 0 0 56 20 26.3158 HMGB1P5 0 genome.wustl.edu 37 3 22423968 22423968 + RNA DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 22423968 22423968 T - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 50 0 0 48 5 9.43396 CTNNB1 0 genome.wustl.edu 37 3 41275204 41275204 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 41275204 41275204 G - DEL CTNNB1 ENST00000349496 human ensembl 74_37 +1 known frame_shift_del c.1370 p.E458fs 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 166 0 0 111 33 22.9167 XCR1 0 genome.wustl.edu 37 3 46063400 46063400 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 46063400 46063400 A - DEL XCR1 ENST00000309285 human ensembl 74_37 -1 known frame_shift_del c.40 p.Y14fs 0.080 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 82 0 0 59 17 22.3684 DOCK3 0 genome.wustl.edu 37 3 51352538 51352538 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 51352538 51352538 A - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.3381 p.N1129fs 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 72 0 0 76 6 7.31707 CACNA1D 0 genome.wustl.edu 37 3 53699823 53699823 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 53699823 53699823 T - DEL CACNA1D ENST00000288139 human ensembl 74_37 +1 known frame_shift_del c.903 p.F303fs 1.000 pfam_Ion_trans_dom 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 60 0 0 60 5 7.69231 DNAH12 0 genome.wustl.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 57509313 57509313 T - DEL DNAH12 ENST00000351747 human ensembl 74_37 -1 known frame_shift_del c.276 p.G93fs 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 DNAH12 HGNC ENSG00000174844 46 0 0 55 14 20.2899 CADPS 0 genome.wustl.edu 37 3 62535649 62535649 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 3 62535649 62535649 G - DEL CADPS ENST00000383710 human ensembl 74_37 -1 known frame_shift_del c.1895 p.P632fs 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 146 0 0 168 10 5.61798 C4orf3 0 genome.wustl.edu 37 4 120221496 120221497 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 120221496 120221497 - A INS C4orf3 ENST00000399075 human ensembl 74_37 -1 known frame_shift_ins c.594_593 p.L198fs 0.979:0.952 NULL NULL - no_errors C4orf3 HGNC ENSG00000164096 115 0 0 90 17 15.8879 KIAA1109 0 genome.wustl.edu 37 4 123128303 123128304 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 123128303 123128304 - T INS KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_ins c.1537_1538 p.S515fs 1.000:1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 161 0 0 166 10 5.68182 ZNF330 0 genome.wustl.edu 37 4 142143532 142143532 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 142143532 142143532 A - DEL ZNF330 ENST00000262990 human ensembl 74_37 +1 known frame_shift_del c.7 p.K5fs 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 20 0 0 26 11 29.7297 FBXW7 0 genome.wustl.edu 37 4 153268090 153268090 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 153268090 153268090 T - DEL FBXW7 ENST00000281708 human ensembl 74_37 -1 known frame_shift_del c.718 p.M240fs 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 162 0 0 143 22 13.3333 DDX60L 0 genome.wustl.edu 37 4 169341447 169341448 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 169341447 169341448 - A INS DDX60L ENST00000260184 human ensembl 74_37 -1 known frame_shift_ins c.2479_2478 p.T826fs 0.076:0.034 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 39 0 0 42 12 22.2222 SH3RF1 0 genome.wustl.edu 37 4 170057551 170057551 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 184 0 0 169 14 7.65027 FAM149A 0 genome.wustl.edu 37 4 187077174 187077174 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 187077174 187077174 A - DEL FAM149A ENST00000356371 human ensembl 74_37 +1 known frame_shift_del c.1277 p.K427fs 0.044 NULL pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 54 0 0 48 16 25 RBPJ 0 genome.wustl.edu 37 4 26417098 26417098 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 26417098 26417098 T - DEL RBPJ ENST00000342295 human ensembl 74_37 +1 known frame_shift_del c.196 p.C68fs 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 41 0 0 35 9 20.4545 GRK4 0 genome.wustl.edu 37 4 3040280 3040280 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 3040280 3040280 A - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GRK4 HGNC ENSG00000125388 18 0 0 17 9 34.6154 RBM47 0 genome.wustl.edu 37 4 40439902 40439903 + Frame_Shift_Ins INS - - CG TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 40439902 40439903 - CG INS RBM47 ENST00000295971 human ensembl 74_37 -1 known frame_shift_ins c.1009_1008 p.A336fs 0.473:0.106 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 54 0 0 34 3 8.10811 LIMCH1 0 genome.wustl.edu 37 4 41621389 41621390 + Frame_Shift_Del DEL AG AG - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 41621389 41621390 AG - DEL LIMCH1 ENST00000503057 human ensembl 74_37 +1 known frame_shift_del c.390_391 p.E133fs 0.000:0.999 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 64 0 0 43 14 24.5614 CLOCK 0 genome.wustl.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 56336954 56336954 A - DEL CLOCK ENST00000309964 human ensembl 74_37 -1 known frame_shift_del c.368 p.L123fs 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,prints_Nuc_translocat 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 - no_errors CLOCK HGNC ENSG00000134852 125 0 0 111 38 25.5034 POLR2B 0 genome.wustl.edu 37 4 57861565 57861567 + In_Frame_Del DEL GAG GAG - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 57861565 57861567 GAG - DEL POLR2B ENST00000314595 human ensembl 74_37 +1 known in_frame_del c.725_727 p.G244in_frame_del 1.000:1.000:1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 166 0 0 113 17 13.0769 EPHA5 0 genome.wustl.edu 37 4 66356280 66356281 + Frame_Shift_Ins INS - - CA TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 66356280 66356281 - CA INS EPHA5 ENST00000273854 human ensembl 74_37 -1 known frame_shift_ins c.1217_1216 p.E406fs 1.000:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 78 0 0 91 8 8.08081 SULT1B1 0 genome.wustl.edu 37 4 70620845 70620845 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 70620845 70620845 T - DEL SULT1B1 ENST00000310613 human ensembl 74_37 -1 known frame_shift_del c.91 p.I31fs 0.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1B1 HGNC ENSG00000173597 196 0 0 195 16 7.58294 SLC10A6 0 genome.wustl.edu 37 4 87769943 87769943 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 4 87769943 87769943 C - DEL SLC10A6 ENST00000273905 human ensembl 74_37 -1 known frame_shift_del c.326 p.G109fs 1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 116 0 0 96 7 6.79612 SLC12A7 0 genome.wustl.edu 37 5 1074698 1074698 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 1074698 1074698 G - DEL SLC12A7 ENST00000264930 human ensembl 74_37 -1 known frame_shift_del c.2056 p.H686fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 105 0 0 73 8 9.87654 PCDHA9 0 genome.wustl.edu 37 5 140230509 140230509 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140230509 140230509 T - DEL PCDHA9 ENST00000378122 human ensembl 74_37 +1 known frame_shift_del c.2429 p.L813fs 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 48 0 0 78 27 25.7143 PCDHGB1 0 genome.wustl.edu 37 5 140730637 140730638 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140730637 140730638 - A INS PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known frame_shift_ins c.810_811 p.N270fs 0.000:0.994 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 PCDHGB1 HGNC ENSG00000254221 187 0 0 150 8 5.06329 PCDHGC3 0 genome.wustl.edu 37 5 140857742 140857742 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 140857742 140857742 A - DEL PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known frame_shift_del c.2059 p.N689fs 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 221 0 0 175 56 24.2424 TRIO 0 genome.wustl.edu 37 5 14487781 14487781 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 14487781 14487781 C - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.7044 p.V2351fs 1.000 superfamily_Capsid/spike_ssDNA_virus pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 70 0 0 54 10 15.625 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_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 80 0 0 90 19 17.4312 SPINK5 0 genome.wustl.edu 37 5 147499875 147499875 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 147499875 147499875 A - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.2459 p.K823fs 0.998 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 31 0 0 20 5 20 WWC1 0 genome.wustl.edu 37 5 167850877 167850878 + Frame_Shift_Del DEL CT CT - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 167850877 167850878 CT - DEL WWC1 ENST00000265293 human ensembl 74_37 +1 known frame_shift_del c.1614_1615 p.S541fs 1.000:1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 80 0 0 66 7 9.58904 TSPAN17 0 genome.wustl.edu 37 5 176078866 176078866 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 176078866 176078866 G - DEL TSPAN17 ENST00000310032 human ensembl 74_37 +1 known frame_shift_del c.250 p.A85fs 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN17 HGNC ENSG00000048140 127 0 0 102 17 14.2857 HNRNPAB 0 genome.wustl.edu 37 5 177633829 177633829 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 177633829 177633829 G - DEL HNRNPAB ENST00000358344 human ensembl 74_37 +1 known frame_shift_del c.475 p.G160fs 0.984 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 104 0 0 94 7 6.93069 FLT4 0 genome.wustl.edu 37 5 180053022 180053023 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 180053022 180053023 - G INS FLT4 ENST00000261937 human ensembl 74_37 -1 known frame_shift_ins c.1268_1267 p.Q423fs 1.000:1.000 pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 111 0 0 113 7 5.83333 CDH10 0 genome.wustl.edu 37 5 24537692 24537693 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 24537692 24537693 - T INS CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_ins c.323_322 p.T108fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 63 0 0 54 8 12.9032 NIPBL 0 genome.wustl.edu 37 5 37010248 37010248 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 37010248 37010248 T - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.4481 p.L1495fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 77 0 0 87 7 7.44681 C5orf42 0 genome.wustl.edu 37 5 37167306 37167306 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 37167306 37167306 T - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.7243 p.T2415fs 0.346 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 39 0 0 46 8 14.8148 C6 0 genome.wustl.edu 37 5 41181560 41181560 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 41181560 41181560 C - DEL C6 ENST00000263413 human ensembl 74_37 -1 known frame_shift_del c.828 p.S277fs 0.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 69 0 0 80 7 8.04598 MCCC2 0 genome.wustl.edu 37 5 70939716 70939716 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 70939716 70939716 A - DEL MCCC2 ENST00000340941 human ensembl 74_37 +1 known frame_shift_del c.1143 p.K383fs 0.939 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors MCCC2 HGNC ENSG00000131844 111 0 0 93 6 6.06061 FCHO2 0 genome.wustl.edu 37 5 72264329 72264329 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 72264329 72264329 A - DEL FCHO2 ENST00000341845 human ensembl 74_37 +1 known frame_shift_del c.38 p.N15fs 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 11 0 0 5 3 37.5 WDR41 0 genome.wustl.edu 37 5 76728856 76728856 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 5 76728856 76728856 A - DEL WDR41 ENST00000512033 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors WDR41 HGNC ENSG00000164253 12 0 0 13 3 18.75 MCHR2 0 genome.wustl.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 100382358 100382358 A - DEL MCHR2 ENST00000281806 human ensembl 74_37 -1 known frame_shift_del c.623 p.F208fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 69 0 0 82 15 15.4639 ASCC3 0 genome.wustl.edu 37 6 101296172 101296173 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 101296172 101296173 - T INS ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_ins c.653_652 p.T218fs 0.712:0.699 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 35 0 0 56 17 23.2877 ASCC3 0 genome.wustl.edu 37 6 101296336 101296336 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 101296336 101296336 A - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.489 p.F163fs 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 47 0 0 61 10 14.0845 ENSG00000271730 0 genome.wustl.edu 37 6 109319968 109319969 + RNA DEL AA AA - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 109319968 109319969 AA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 51 0 0 45 7 13.4615 CEP57L1 0 genome.wustl.edu 37 6 109481813 109481814 + Frame_Shift_Del DEL AA AA - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 109481813 109481814 AA - DEL CEP57L1 ENST00000359793 human ensembl 74_37 +1 known frame_shift_del c.1055_1056 p.H354fs 0.001:0.000 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 124 0 0 116 9 7.2 WISP3 0 genome.wustl.edu 37 6 112389433 112389434 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 112389433 112389434 - A INS WISP3 ENST00000361714 human ensembl 74_37 +1 known frame_shift_ins c.669_670 p.C226fs 1.000:1.000 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 43 0 0 43 10 18.8679 FOXQ1 0 genome.wustl.edu 37 6 1313402 1313402 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 1313402 1313402 T - DEL FOXQ1 ENST00000296839 human ensembl 74_37 +1 known frame_shift_del c.463 p.F156fs 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 FOXQ1 HGNC ENSG00000164379 75 0 0 65 12 15.5844 MOXD1 0 genome.wustl.edu 37 6 132722507 132722507 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 132722507 132722507 C - DEL MOXD1 ENST00000367963 human ensembl 74_37 -1 known frame_shift_del c.59 p.G20fs 0.022 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 10 0 0 4 2 33.3333 HECA 0 genome.wustl.edu 37 6 139488147 139488147 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 166 0 0 121 9 6.92308 PHACTR2 0 genome.wustl.edu 37 6 144086413 144086414 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 144086413 144086414 - A INS PHACTR2 ENST00000440869 human ensembl 74_37 +1 known frame_shift_ins c.710_711 p.T240fs 0.746:0.153 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 84 0 0 82 16 16.3265 ENSG00000235381 0 genome.wustl.edu 37 6 155575539 155575539 + RNA DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 155575539 155575539 C - DEL ENSG00000235381 ENST00000435295 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000235381 81 0 0 48 11 18.6441 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 80 0 0 74 8 9.7561 TRIM27 0 genome.wustl.edu 37 6 28876796 28876796 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 28876796 28876796 A - DEL TRIM27 ENST00000377199 human ensembl 74_37 -1 known frame_shift_del c.840 p.F280fs 1.000 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_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 114 0 0 103 14 11.9658 OR2J1 0 genome.wustl.edu 37 6 29068729 29068729 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 29068729 29068729 A - DEL OR2J1 ENST00000377171 human ensembl 74_37 +1 known frame_shift_del c.10 p.N6fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 27 0 0 29 11 27.5 OR2J2 0 genome.wustl.edu 37 6 29141422 29141422 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 29141422 29141422 A - DEL OR2J2 ENST00000377167 human ensembl 74_37 +1 known frame_shift_del c.10 p.N6fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 79 0 0 94 5 5.05051 GPANK1 0 genome.wustl.edu 37 6 31630313 31630314 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 31630313 31630314 - C INS GPANK1 ENST00000375893 human ensembl 74_37 -1 known frame_shift_ins c.801_800 p.W268fs 1.000:1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom - no_errors GPANK1 HGNC ENSG00000204438 43 0 0 36 11 23.4043 GPSM3 0 genome.wustl.edu 37 6 32159189 32159189 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 32159189 32159189 C - DEL GPSM3 ENST00000375040 human ensembl 74_37 -1 known frame_shift_del c.437 p.G146fs 0.905 pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 185 0 0 127 38 23.0303 PTK7 0 genome.wustl.edu 37 6 43097013 43097013 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 43097013 43097013 G - DEL PTK7 ENST00000476760 human ensembl 74_37 +1 putative frame_shift_del c.378 p.G128fs 0.592 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PTK7 HGNC ENSG00000112655 38 0 0 18 5 21.7391 CDC5L 0 genome.wustl.edu 37 6 44374080 44374081 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 44374080 44374081 - A INS CDC5L ENST00000371477 human ensembl 74_37 +1 known frame_shift_ins c.779_780 p.D263fs 1.000:0.980 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 29 0 0 36 15 29.4118 CDC5L 0 genome.wustl.edu 37 6 44413590 44413590 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 44413590 44413590 C - DEL CDC5L ENST00000371477 human ensembl 74_37 +1 known frame_shift_del c.2290 p.R765fs 1.000 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 128 0 0 125 7 5.30303 DST 0 genome.wustl.edu 37 6 56471451 56471451 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 56471451 56471451 A - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.7876 p.Y2626fs 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 101 0 0 126 15 10.6383 OGFRL1 0 genome.wustl.edu 37 6 72006204 72006204 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 6 72006204 72006204 C - DEL OGFRL1 ENST00000370435 human ensembl 74_37 +1 known frame_shift_del c.486 p.L164fs 0.991 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 32 0 0 29 8 21.6216 TFEC 0 genome.wustl.edu 37 7 115594657 115594657 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 115594657 115594657 T - DEL TFEC ENST00000265440 human ensembl 74_37 -1 known frame_shift_del c.422 p.K141fs 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 45 0 0 52 15 22.3881 EPHB6 0 genome.wustl.edu 37 7 142566330 142566330 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 142566330 142566330 G - DEL EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_del c.2119 p.G708fs 0.995 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 24 0 0 16 5 23.8095 KMT2C 0 genome.wustl.edu 37 7 151874148 151874148 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 151874148 151874148 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.8390 p.K2797fs 0.019 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 60 0 0 72 23 24.2105 ENSG00000224903 0 genome.wustl.edu 37 7 156450338 156450338 + RNA DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 156450338 156450338 T - DEL ENSG00000224903 ENST00000455709 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005534.8 Clone_based_vega_gene ENSG00000224903 36 0 0 42 4 8.69565 UBE3C 0 genome.wustl.edu 37 7 156976641 156976642 + Frame_Shift_Del DEL TC TC - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 156976641 156976642 TC - DEL UBE3C ENST00000348165 human ensembl 74_37 +1 known frame_shift_del c.1061_1062 p.P356fs 0.551:0.239 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 187 0 0 140 24 14.6341 AHR 0 genome.wustl.edu 37 7 17378743 17378743 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 17378743 17378743 A - DEL AHR ENST00000242057 human ensembl 74_37 +1 known frame_shift_del c.1294 p.N433fs 0.935 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors AHR HGNC ENSG00000106546 73 0 0 96 9 8.57143 FKBP9 0 genome.wustl.edu 37 7 33014803 33014804 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 33014803 33014804 - C INS FKBP9 ENST00000538336 human ensembl 74_37 +1 known frame_shift_ins c.536_537 p.N182fs 1.000:0.998 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 103 0 0 107 20 15.748 DDC 0 genome.wustl.edu 37 7 50531075 50531075 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 50531075 50531075 T - DEL DDC ENST00000357936 human ensembl 74_37 -1 known frame_shift_del c.1297 p.I433fs 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 100 0 0 78 14 15.2174 MRPS17 0 genome.wustl.edu 37 7 56020948 56020948 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 56020948 56020948 A - DEL MRPS17 ENST00000285298 human ensembl 74_37 +1 known frame_shift_del c.60 p.M22fs 1.000 pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold - no_errors MRPS17 HGNC ENSG00000239789 115 0 0 105 7 6.25 DAGLB 0 genome.wustl.edu 37 7 6449932 6449932 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 6449932 6449932 C - DEL DAGLB ENST00000297056 human ensembl 74_37 -1 known frame_shift_del c.1649 p.G550fs 0.052 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 43 0 0 35 6 14.6341 C7orf26 0 genome.wustl.edu 37 7 6639538 6639539 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 6639538 6639539 - T INS C7orf26 ENST00000344417 human ensembl 74_37 +1 known frame_shift_ins c.659_660 p.L222fs 1.000:0.988 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 137 0 0 96 17 15.0442 CCDC146 0 genome.wustl.edu 37 7 76888377 76888378 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 76888377 76888378 - A INS CCDC146 ENST00000285871 human ensembl 74_37 +1 known frame_shift_ins c.750_751 p.V252fs 0.999:1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 31 0 0 33 8 19.5122 MTERF 0 genome.wustl.edu 37 7 91509449 91509449 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 7 91509449 91509449 A - DEL MTERF ENST00000481516 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MTERF HGNC ENSG00000127989 24 0 0 23 4 14.8148 VPS13B 0 genome.wustl.edu 37 8 100050671 100050671 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 100050671 100050671 T - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.168 p.L58fs 0.024 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 64 0 0 56 10 15.1515 RGS22 0 genome.wustl.edu 37 8 101075898 101075899 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 101075898 101075899 - A INS RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_ins c.1098_1097 p.L366fs 0.000:0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 58 0 0 83 14 14.433 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 109 0 0 102 40 28.169 COL14A1 0 genome.wustl.edu 37 8 121379470 121379471 + Frame_Shift_Ins INS - - C TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 121379470 121379471 - C INS COL14A1 ENST00000297848 human ensembl 74_37 +1 known frame_shift_ins c.5138_5139 p.G1716fs 1.000:0.886 NULL pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 58 0 0 64 9 12.3288 TATDN1 0 genome.wustl.edu 37 8 125531026 125531027 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 125531026 125531027 - T INS TATDN1 ENST00000520938 human ensembl 74_37 -1 known frame_shift_ins c.187_186 p.*62fs 0.019:0.004 NULL NULL - no_errors TATDN1 HGNC ENSG00000147687 39 0 0 37 11 22.9167 PHF20L1 0 genome.wustl.edu 37 8 133836264 133836264 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 133836264 133836264 A - DEL PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative frame_shift_del c.1595 p.V535fs 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 66 0 0 75 19 20.2128 COL22A1 0 genome.wustl.edu 37 8 139737648 139737649 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 139737648 139737649 - G INS COL22A1 ENST00000303045 human ensembl 74_37 -1 known frame_shift_ins c.2175_2174 p.G726fs 0.994:1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 107 0 0 137 10 6.80272 KCNK9 0 genome.wustl.edu 37 8 140630595 140630595 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 140630595 140630595 T - DEL KCNK9 ENST00000303015 human ensembl 74_37 -1 known frame_shift_del c.1031 p.N344fs 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_KCNK9 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 101 0 0 129 21 14 MAPK15 0 genome.wustl.edu 37 8 144804319 144804319 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 144804319 144804319 G - DEL MAPK15 ENST00000338033 human ensembl 74_37 +1 known frame_shift_del c.1533 p.G513fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK15 HGNC ENSG00000181085 78 0 0 110 23 17.2932 VPS28 0 genome.wustl.edu 37 8 145652341 145652341 + RNA DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 145652341 145652341 G - DEL VPS28 ENST00000526734 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS28 HGNC ENSG00000160948 33 0 0 36 8 18.1818 ZNF7 0 genome.wustl.edu 37 8 146066890 146066891 + Frame_Shift_Del DEL AC AC - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 146066890 146066891 AC - DEL ZNF7 ENST00000325241 human ensembl 74_37 +1 known frame_shift_del c.398_399 p.D133fs 0.084:0.005 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 184 0 0 192 41 17.5966 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 16 0 0 17 10 37.037 PPP3CC 0 genome.wustl.edu 37 8 22332543 22332543 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 22332543 22332543 A - DEL PPP3CC ENST00000240139 human ensembl 74_37 +1 known frame_shift_del c.126 p.N44fs 0.996 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 58 0 0 87 16 15.534 CHRNA2 0 genome.wustl.edu 37 8 27320855 27320855 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 27320855 27320855 C - DEL CHRNA2 ENST00000407991 human ensembl 74_37 -1 known frame_shift_del c.1105 p.A369fs 0.966 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 CHRNA2 HGNC ENSG00000120903 54 0 0 47 19 28.7879 ESCO2 0 genome.wustl.edu 37 8 27633919 27633919 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 27633919 27633919 A - DEL ESCO2 ENST00000305188 human ensembl 74_37 +1 known frame_shift_del c.94 p.K33fs 0.909 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 18 0 0 22 4 15.3846 KIF13B 0 genome.wustl.edu 37 8 29046126 29046127 + Splice_Site INS - - GA TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 29046126 29046127 - GA INS KIF13B ENST00000524189 human ensembl 74_37 -1 known splice_site_ins c.224-3_224-2 e5-2 0.995:0.446 - - - no_errors KIF13B HGNC ENSG00000197892 30 0 0 24 7 22.5806 TEX15 0 genome.wustl.edu 37 8 30703516 30703516 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 30703516 30703516 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.3018 p.A1007fs 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 115 0 0 193 12 5.85366 GOT1L1 0 genome.wustl.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 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 100 0 0 108 30 21.7391 PRKDC 0 genome.wustl.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 48746799 48746799 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.8107 p.R2703fs 0.739 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 393 1 0.253807 483 77 13.75 MCM4 0 genome.wustl.edu 37 8 48883979 48883979 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 48883979 48883979 A - DEL MCM4 ENST00000262105 human ensembl 74_37 +1 known frame_shift_del c.1879 p.T629fs 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 89 0 0 72 16 18.1818 XKR4 0 genome.wustl.edu 37 8 56015076 56015076 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 56015076 56015076 A - DEL XKR4 ENST00000327381 human ensembl 74_37 +1 known frame_shift_del c.28 p.M11fs 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 48 0 0 50 13 20.6349 CSPP1 0 genome.wustl.edu 37 8 68076631 68076631 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 68076631 68076631 A - DEL CSPP1 ENST00000262210 human ensembl 74_37 +1 known frame_shift_del c.2701 p.N903fs 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 49 0 0 56 7 11.1111 ARFGEF1 0 genome.wustl.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 68128855 68128856 - G INS ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_ins c.4656_4655 p.P1553fs 0.000:0.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 97 0 0 102 17 14.2857 ARFGEF1 0 genome.wustl.edu 37 8 68128856 68128856 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 68128856 68128856 G - DEL ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_del c.4655 p.P1552fs 0.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 97 0 0 110 9 7.56303 KCNB2 0 genome.wustl.edu 37 8 73480092 73480092 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 73480092 73480092 G - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.123 p.G43fs 0.906 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 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 106 0 0 107 18 14.4 PI15 0 genome.wustl.edu 37 8 75756299 75756300 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 75756299 75756300 - T INS PI15 ENST00000260113 human ensembl 74_37 +1 known frame_shift_ins c.357_358 p.L120fs 1.000:1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 233 0 0 312 19 5.74018 MMP16 0 genome.wustl.edu 37 8 89128859 89128860 + Frame_Shift_Ins INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 89128859 89128860 - T INS MMP16 ENST00000286614 human ensembl 74_37 -1 known frame_shift_ins c.960_959 p.N320fs 0.949:0.999 pirsf_Pept_M10A_Metazoans 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 MMP16 HGNC ENSG00000156103 156 0 0 216 34 13.6 TMEM64 0 genome.wustl.edu 37 8 91643788 91643788 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 91643788 91643788 A - DEL TMEM64 ENST00000458549 human ensembl 74_37 -1 known frame_shift_del c.943 p.C315fs 1.000 NULL pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 133 0 0 139 16 10.3226 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 67 0 0 88 9 9.27835 PALM2-AKAP2 0 genome.wustl.edu 37 9 112900483 112900483 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 112900483 112900483 C - DEL PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known frame_shift_del c.2659 p.Q889fs 0.001 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 19 0 0 13 6 31.5789 MIR4668 0 genome.wustl.edu 37 9 114694384 114694385 + RNA DEL AA AA - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 114694384 114694385 AA - DEL MIR4668 ENST00000582284 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR4668 HGNC ENSG00000266315 9 0 0 16 8 33.3333 ZFP37 0 genome.wustl.edu 37 9 115806416 115806416 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 115806416 115806416 T - DEL ZFP37 ENST00000553380 human ensembl 74_37 -1 known frame_shift_del c.527 p.N176fs 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 ZFP37 HGNC ENSG00000136866 48 0 0 61 14 18.6667 C9orf114 0 genome.wustl.edu 37 9 131591120 131591120 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 131591120 131591120 T - DEL C9orf114 ENST00000361256 human ensembl 74_37 -1 known frame_shift_del c.102 p.K34fs 0.998 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 89 0 0 98 29 22.8346 ABL1 0 genome.wustl.edu 37 9 133760613 133760613 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 133760613 133760613 C - DEL ABL1 ENST00000372348 human ensembl 74_37 +1 known frame_shift_del c.2993 p.V1000fs 0.001 pfam_F-actin_binding pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 85 0 0 128 16 11.1111 TTF1 0 genome.wustl.edu 37 9 135277373 135277373 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 135277373 135277373 T - DEL TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_del c.836 p.K279fs 0.003 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 91 0 0 164 9 5.20231 LINC00094 0 genome.wustl.edu 37 9 136899776 136899776 + RNA DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 136899776 136899776 C - DEL LINC00094 ENST00000605164 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00094 HGNC ENSG00000235106 17 0 0 14 5 26.3158 UAP1L1 0 genome.wustl.edu 37 9 139975220 139975220 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 139975220 139975220 C - DEL UAP1L1 ENST00000409858 human ensembl 74_37 +1 known frame_shift_del c.1258 p.R421fs 0.999 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 90 0 0 116 25 17.7305 DPP7 0 genome.wustl.edu 37 9 140005118 140005118 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 140005118 140005118 C - DEL DPP7 ENST00000371579 human ensembl 74_37 -1 known frame_shift_del c.1461 p.R489fs 0.000 NULL pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 94 0 0 112 8 6.66667 NDOR1 0 genome.wustl.edu 37 9 140109259 140109259 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 140109259 140109259 C - DEL NDOR1 ENST00000371521 human ensembl 74_37 +1 known frame_shift_del c.854 p.T287fs 0.050 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 141 0 0 171 25 12.7551 FREM1 0 genome.wustl.edu 37 9 14842654 14842654 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 14842654 14842654 C - DEL FREM1 ENST00000380881 human ensembl 74_37 -1 known frame_shift_del c.1401 p.F470fs 0.953 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 81 0 0 118 10 7.8125 CNTLN 0 genome.wustl.edu 37 9 17135271 17135271 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 17135271 17135271 G - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.208 p.A72fs 0.002 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 12 0 0 15 4 21.0526 MLLT3 0 genome.wustl.edu 37 9 20622295 20622295 + RNA DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 20622295 20622295 C - DEL MLLT3 ENST00000475957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MLLT3 HGNC ENSG00000171843 29 0 0 32 4 11.1111 ENSG00000265194 0 genome.wustl.edu 37 9 21861903 21861903 + RNA DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 21861903 21861903 T - DEL ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 17 0 0 16 15 48.3871 AQP3 0 genome.wustl.edu 37 9 33442228 33442229 + RNA DEL AT AT - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 33442228 33442229 AT - DEL AQP3 ENST00000493581 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AQP3 HGNC ENSG00000165272 61 0 0 46 11 19.2982 MELK 0 genome.wustl.edu 37 9 36630151 36630152 + RNA INS - - T TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 36630151 36630152 - T INS MELK ENST00000480021 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MELK HGNC ENSG00000165304 29 0 0 22 8 26.6667 PTPRD 0 genome.wustl.edu 37 9 8499702 8499702 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 8499702 8499702 T - DEL PTPRD ENST00000356435 human ensembl 74_37 -1 known frame_shift_del c.2267 p.N756fs 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,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 219 0 0 278 46 14.1975 NTRK2 0 genome.wustl.edu 37 9 87317265 87317266 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab 9 87317265 87317266 - A INS NTRK2 ENST00000277120 human ensembl 74_37 +1 known frame_shift_ins c.290_291 p.I98fs 0.994:0.440 prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 153 0 0 211 14 6.22222 ZMAT1 0 genome.wustl.edu 37 X 101138439 101138439 + RNA DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 101138439 101138439 T - DEL ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 12 0 0 12 18 60 MORF4L2 0 genome.wustl.edu 37 X 102931753 102931753 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 102931753 102931753 G - DEL MORF4L2 ENST00000360458 human ensembl 74_37 -1 known frame_shift_del c.203 p.P68fs 1.000 NULL pfam_MRG_dom,superfamily_Chromodomain-like - no_errors MORF4L2 HGNC ENSG00000123562 51 0 0 49 7 12.5 CXorf57 0 genome.wustl.edu 37 X 105881026 105881027 + Frame_Shift_Ins INS - - A TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 105881026 105881027 - A INS CXorf57 ENST00000372548 human ensembl 74_37 +1 known frame_shift_ins c.1445_1446 p.N484fs 1.000:0.987 NULL superfamily_NA-bd_OB-fold - no_errors CXorf57 HGNC ENSG00000147231 98 0 0 91 23 20.1754 IRS4 0 genome.wustl.edu 37 X 107976243 107976244 + Frame_Shift_Del DEL TC TC - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 107976243 107976244 TC - DEL IRS4 ENST00000372129 human ensembl 74_37 -1 known frame_shift_del c.3332_3331 p.D1111fs 0.981:0.997 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 139 0 0 118 7 5.6 USP26 0 genome.wustl.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 132160788 132160788 A - DEL USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_del c.1461 p.F487fs 0.033 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 190 1 0.52356 153 55 26.4423 DDX26B 0 genome.wustl.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 134680317 134680317 T - DEL DDX26B ENST00000370752 human ensembl 74_37 +1 known frame_shift_del c.352 p.L120fs 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 68 0 0 43 6 12.2449 SRPK3 0 genome.wustl.edu 37 X 153048690 153048690 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 153048690 153048690 C - DEL SRPK3 ENST00000370101 human ensembl 74_37 +1 known frame_shift_del c.758 p.Q255fs 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 SRPK3 HGNC ENSG00000184343 51 0 0 33 11 25 MPP1 0 genome.wustl.edu 37 X 154007602 154007604 + In_Frame_Del DEL CTT CTT - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 154007602 154007604 CTT - DEL MPP1 ENST00000369534 human ensembl 74_37 -1 known in_frame_del c.1251_1249 p.K417in_frame_del 1.000:1.000:1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_PDZ,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,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP1 HGNC ENSG00000130830 81 0 0 55 16 22.5352 NHS 0 genome.wustl.edu 37 X 17710497 17710497 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 17710497 17710497 C - DEL NHS ENST00000380060 human ensembl 74_37 +1 known frame_shift_del c.761 p.L256fs 0.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 163 0 0 129 15 10.4167 DMD 0 genome.wustl.edu 37 X 33229458 33229458 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 33229458 33229458 A - DEL DMD ENST00000463609 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors DMD HGNC ENSG00000198947 24 0 0 30 6 16.6667 BCOR 0 genome.wustl.edu 37 X 39913253 39913253 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 39913253 39913253 G - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.4862 p.P1621fs 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 54 0 0 29 7 19.4444 BCOR 0 genome.wustl.edu 37 X 39932794 39932794 + Frame_Shift_Del DEL G G - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 39932794 39932794 G - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.1805 p.P602fs 0.793 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 136 0 0 122 9 6.87023 MED14 0 genome.wustl.edu 37 X 40588606 40588606 + RNA DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 40588606 40588606 A - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED14 HGNC ENSG00000180182 34 0 0 25 13 34.2105 MTMR8 0 genome.wustl.edu 37 X 63557257 63557257 + Frame_Shift_Del DEL T T - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 63557257 63557257 T - DEL MTMR8 ENST00000374852 human ensembl 74_37 -1 known frame_shift_del c.992 p.K331fs 0.996 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 48 0 0 23 5 17.8571 CDX4 0 genome.wustl.edu 37 X 72667321 72667321 + Frame_Shift_Del DEL C C - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 72667321 72667321 C - DEL CDX4 ENST00000373514 human ensembl 74_37 +1 known frame_shift_del c.232 p.P79fs 0.999 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 93 0 0 56 16 22.2222 ZNF711 0 genome.wustl.edu 37 X 84526621 84526621 + Frame_Shift_Del DEL A A - TCGA-BR-7707-01A-11D-2053-08 TCGA-BR-7707-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff6694b-3619-4051-a868-c1fc86d59ce4 56b185dd-0b23-4ebb-8961-0f7538a940ab X 84526621 84526621 A - DEL ZNF711 ENST00000395402 human ensembl 74_37 +1 known frame_shift_del c.2097 p.K701fs 0.506 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 135 1 0.735294 126 35 21.7391